Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Diseases affecting the orderly growth and persistence of hair.
A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
A general transcription factor that is involved in basal GENETIC TRANSCRIPTION and NUCLEOTIDE EXCISION REPAIR. It consists of nine subunits including ATP-DEPENDENT DNA HELICASES; CYCLIN H; and XERODERMA PIGMENTOSUM GROUP D PROTEIN.
Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.
A characteristic symptom complex.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Changes in the organism associated with senescence, occurring at an accelerated rate.
That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
Dimers found in DNA chains damaged by ULTRAVIOLET RAYS. They consist of two adjacent PYRIMIDINE NUCLEOTIDES, usually THYMINE nucleotides, in which the pyrimidine residues are covalently joined by a cyclobutane ring. These dimers block DNA REPLICATION.
The so-called general transcription factors that bind to RNA POLYMERASE II and that are required to initiate transcription. They include TFIIA; TFIIB; TFIID; TFIIE; TFIIF; TFIIH; TFII-I; and TFIIJ. In vivo they apparently bind in an ordered multi-step process and/or may form a large preinitiation complex called RNA polymerase II holoenzyme.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG. (1/27)

Alterations in genes involved in nucleotide excision repair (NER) are associated with three genetic disorders, xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The transcription and repair factor TFIIH is a central component of NER and mutations of its subunits are associated with all three diseases. A recent report provides a molecular basis for how mutations in the NER endonuclease XPG that affect the interaction of TFIIH might give rise to CS features. In cells of XP-G patients with a combined XP and CS phenotype, XPG fails to associate with TFIIH and as a consequence the CAK subunit dissociates from core TFIIH. A simplified, but general model of how various assembly and disassembly states of TFIIH can be invoked to explain different disease states is discussed. Accordingly, defects in specific enzymatic functions typically result in XP, dissociation of the CAK subunit from TFIIH is associated with XP/CS and a more generalized destabilization of TFIIH gives rise to TTD. While this classification provides a useful framework to understand how alterations in TFIIH correlate with disease states, it does not universally apply and relevant exception and alternative explanations are discussed.  (+info)

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. (2/27)

 (+info)

XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. (3/27)

 (+info)

Structure of the DNA repair helicase XPD. (4/27)

 (+info)

Tissue-specific accelerated aging in nucleotide excision repair deficiency. (5/27)

 (+info)

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. (6/27)

 (+info)

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. (7/27)

 (+info)

p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. (8/27)

 (+info)

Trichothiodystrophy (TTD) syndromes are a group of rare genetic disorders characterized by brittle, sparse, and easily breakable hair due to abnormal sulfur content. The syndromes can also involve various other symptoms such as intellectual disability, developmental delays, ichthyosis (dry, scaly skin), nail abnormalities, short stature, and increased sensitivity to light. TTD syndromens are caused by mutations in genes involved in DNA repair, particularly the ERCC2 and ERCC3 genes. These genetic defects lead to impaired DNA repair and decreased UV protection, which can result in increased risk of skin cancer. The condition is usually present from birth or early childhood and affects both males and females equally.

Hair diseases is a broad term that refers to various medical conditions affecting the hair shaft, follicle, or scalp. These conditions can be categorized into several types, including:

1. Hair shaft abnormalities: These are conditions that affect the structure and growth of the hair shaft. Examples include trichorrhexis nodosa, where the hair becomes weak and breaks easily, and pili torti, where the hair shaft is twisted and appears sparse and fragile.
2. Hair follicle disorders: These are conditions that affect the hair follicles, leading to hair loss or abnormal growth patterns. Examples include alopecia areata, an autoimmune disorder that causes patchy hair loss, and androgenetic alopecia, a genetic condition that leads to pattern baldness in both men and women.
3. Scalp disorders: These are conditions that affect the scalp, leading to symptoms such as itching, redness, scaling, or pain. Examples include seborrheic dermatitis, psoriasis, and tinea capitis (ringworm of the scalp).
4. Hair cycle abnormalities: These are conditions that affect the normal growth cycle of the hair, leading to excessive shedding or thinning. Examples include telogen effluvium, where a large number of hairs enter the resting phase and fall out, and anagen effluvium, which is typically caused by chemotherapy or radiation therapy.
5. Infectious diseases: Hair follicles can become infected with various bacteria, viruses, or fungi, leading to conditions such as folliculitis, furunculosis, and kerion.
6. Genetic disorders: Some genetic disorders can affect the hair, such as Menkes syndrome, which is a rare inherited disorder that affects copper metabolism and leads to kinky, sparse, and brittle hair.

Proper diagnosis and treatment of hair diseases require consultation with a healthcare professional, often a dermatologist or a trichologist who specializes in hair and scalp disorders.

Xeroderma Pigmentosum (XP) is a rare, genetic disorder that affects the body's ability to repair damage to DNA caused by ultraviolet (UV) radiation from sunlight. The condition results in extreme sensitivity to UV light. People with XP develop freckles and moles on sun-exposed skin at an early age, and are prone to developing various forms of skin cancer. In severe cases, the disease may also affect the eyes and nervous system.

The disorder is caused by mutations in genes that are responsible for repairing damaged DNA. If not diagnosed and managed properly, XP can lead to serious health complications, including disability and death. Treatment typically involves strict sun protection measures, such as avoiding sunlight, using sunscreen, wearing protective clothing, and in some cases, medication or surgery.

Xeroderma Pigmentosum Group D Protein, also known as XPD protein, is a component of the nucleotide excision repair complex (NER) in humans. The NER complex is responsible for repairing damaged DNA, including DNA that has been damaged by ultraviolet (UV) light.

The XPD protein is an ATP-dependent helicase that unwinds double-stranded DNA during the NER process. Mutations in the gene that encodes the XPD protein can lead to a genetic disorder called xeroderma pigmentosum (XP), which is characterized by increased sensitivity to UV light and a high risk of skin cancer.

There are several subtypes of XP, and mutations in the XPD gene can cause XP group D. This form of XP is also associated with progressive neurodegeneration and cognitive impairment. The exact mechanism by which XPD mutations lead to these neurological symptoms is not fully understood, but it is thought to be related to defects in transcription-coupled repair (TCR), a subpathway of NER that preferentially repairs DNA damage in the transcribed strand of active genes.

Transcription Factor IIH (TFIIH) is a multi-subunit protein complex that plays a crucial role in the process of transcription, which is the synthesis of RNA from DNA. Specifically, TFIIH is involved in the initiation phase of transcription for protein-coding genes in eukaryotic cells.

TFIIH has two main enzymatic activities: helicase and kinase. The helicase activity is provided by the XPB and XPD subunits, which are responsible for unwinding the DNA double helix at the transcription start site. This creates a single-stranded DNA template for the RNA polymerase II (Pol II) enzyme to bind and begin transcribing the gene.

The kinase activity of TFIIH is provided by the CAK subcomplex, which consists of the CDK7, Cyclin H, and MAT1 proteins. This kinase phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of Pol II, leading to the recruitment of additional transcription factors and the initiation of RNA synthesis.

In addition to its role in transcription, TFIIH is also involved in DNA repair processes, particularly nucleotide excision repair (NER). During NER, TFIIH helps to recognize and remove damaged DNA lesions, such as those caused by UV radiation or chemical mutagens. The XPB and XPD subunits of TFIIH are essential for this process, as they help to unwind the DNA around the damage site and create a bubble structure that allows other repair factors to access and fix the lesion.

Mutations in the genes encoding various subunits of TFIIH can lead to several human diseases, including xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), and combined XP/CS/TTD. These disorders are characterized by increased sensitivity to UV radiation, developmental abnormalities, and neurological dysfunction.

Photosensitivity disorders refer to conditions that cause an abnormal reaction to sunlight or artificial light. This reaction can take the form of various skin changes, such as rashes, inflammation, or pigmentation, and in some cases, it can also lead to systemic symptoms like fatigue, fever, or joint pain.

The two main types of photosensitivity disorders are:

1. Phototoxic reactions: These occur when a substance (such as certain medications, chemicals, or plants) absorbs light energy and transfers it to skin cells, causing damage and inflammation. The reaction typically appears within 24 hours of exposure to the light source and can resemble a sunburn.

2. Photoallergic reactions: These occur when the immune system responds to the combination of light and a particular substance, leading to an allergic response. The reaction may not appear until several days after initial exposure and can cause redness, itching, and blistering.

It is important for individuals with photosensitivity disorders to avoid excessive sun exposure, wear protective clothing, and use broad-spectrum sunscreens with a high SPF rating to minimize the risk of phototoxic or photoallergic reactions.

Ichthyosis is a group of skin disorders that are characterized by dry, thickened, scaly skin. The name "ichthyosis" comes from the Greek word "ichthys," which means fish, as the skin can have a fish-like scale appearance. These conditions can be inherited or acquired and vary in severity.

The medical definition of ichthyosis is a heterogeneous group of genetic keratinization disorders that result in dry, thickened, and scaly skin. The condition may affect any part of the body, but it most commonly appears on the extremities, scalp, and trunk. Ichthyosis can also have associated symptoms such as redness, itching, and blistering.

The severity of ichthyosis can range from mild to severe, and some forms of the condition may be life-threatening in infancy. The exact symptoms and their severity depend on the specific type of ichthyosis a person has. Treatment for ichthyosis typically involves moisturizing the skin, avoiding irritants, and using medications to help control scaling and inflammation.

Cockayne Syndrome is a rare genetic disorder that affects the body's ability to repair DNA. It is characterized by progressive growth failure, neurological abnormalities, and premature aging. The syndrome is typically diagnosed in childhood and is often associated with photosensitivity, meaning that affected individuals are unusually sensitive to sunlight.

Cockayne Syndrome is caused by mutations in either the ERCC6 or ERCC8 gene, which are involved in the repair of damaged DNA. There are two types of Cockayne Syndrome: Type I and Type II. Type I is the more common form and is characterized by normal development during the first year of life followed by progressive growth failure, neurological abnormalities, and premature aging. Type II is a more severe form that is apparent at birth or within the first few months of life and is associated with severe developmental delays, intellectual disability, and early death.

There is no cure for Cockayne Syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and special education services. In some cases, medications may be used to treat specific symptoms such as seizures or gastrointestinal problems.

Medically, hair is defined as a threadlike structure that grows from the follicles found in the skin of mammals. It is primarily made up of a protein called keratin and consists of three parts: the medulla (the innermost part or core), the cortex (middle layer containing keratin filaments) and the cuticle (outer layer of overlapping scales).

Hair growth occurs in cycles, with each cycle consisting of a growth phase (anagen), a transitional phase (catagen), and a resting phase (telogen). The length of hair is determined by the duration of the anagen phase.

While hair plays a crucial role in protecting the skin from external factors like UV radiation, temperature changes, and physical damage, it also serves as an essential aspect of human aesthetics and identity.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Premature aging, also known as "accelerated aging" or "early aging," refers to the physiological process in which the body shows signs of aging at an earlier age than typically expected. This can include various symptoms such as wrinkles, graying hair, decreased energy and mobility, cognitive decline, and increased risk of chronic diseases.

The medical definition of premature aging is not well-established, as aging is a complex process influenced by a variety of genetic and environmental factors. However, certain conditions and syndromes are associated with premature aging, such as Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome.

In general, the signs of premature aging may be caused by a combination of genetic predisposition, lifestyle factors (such as smoking, alcohol consumption, and poor diet), exposure to environmental toxins, and chronic stress. While some aspects of aging are inevitable, maintaining a healthy lifestyle and reducing exposure to harmful factors can help slow down the aging process and improve overall quality of life.

According to the medical definition, ultraviolet (UV) rays are invisible radiations that fall in the range of the electromagnetic spectrum between 100-400 nanometers. UV rays are further divided into three categories: UVA (320-400 nm), UVB (280-320 nm), and UVC (100-280 nm).

UV rays have various sources, including the sun and artificial sources like tanning beds. Prolonged exposure to UV rays can cause damage to the skin, leading to premature aging, eye damage, and an increased risk of skin cancer. UVA rays penetrate deeper into the skin and are associated with skin aging, while UVB rays primarily affect the outer layer of the skin and are linked to sunburns and skin cancer. UVC rays are the most harmful but fortunately, they are absorbed by the Earth's atmosphere and do not reach the surface.

Healthcare professionals recommend limiting exposure to UV rays, wearing protective clothing, using broad-spectrum sunscreen with an SPF of at least 30, and avoiding tanning beds to reduce the risk of UV-related health problems.

DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.

During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.

DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.

Pyrimidine dimers are a type of DNA lesion that form when two adjacent pyrimidine bases on the same strand of DNA become covalently linked, usually as a result of exposure to ultraviolet (UV) light. The most common type of pyrimidine dimer is the cyclobutane pyrimidine dimer (CPD), which forms when two thymine bases are linked together in a cyclobutane ring structure.

Pyrimidine dimers can distort the DNA helix and interfere with normal replication and transcription processes, leading to mutations and potentially cancer. The formation of pyrimidine dimers is a major mechanism by which UV radiation causes skin damage and increases the risk of skin cancer.

The body has several mechanisms for repairing pyrimidine dimers, including nucleotide excision repair (NER) and base excision repair (BER). However, if these repair mechanisms are impaired or overwhelmed, pyrimidine dimers can persist and contribute to the development of cancer.

Transcription factors (TFs) are proteins that regulate the transcription of genetic information from DNA to RNA by binding to specific DNA sequences. They play a crucial role in controlling gene expression, which is the process by which information in genes is converted into a functional product, such as a protein.

TFII, on the other hand, refers to a general class of transcription factors that are involved in the initiation of RNA polymerase II-dependent transcription. These proteins are often referred to as "general transcription factors" because they are required for the transcription of most protein-coding genes in eukaryotic cells.

TFII factors help to assemble the preinitiation complex (PIC) at the promoter region of a gene, which is a group of proteins that includes RNA polymerase II and other cofactors necessary for transcription. Once the PIC is assembled, TFII factors help to recruit RNA polymerase II to the promoter and initiate transcription.

Some examples of TFII factors include TFIIA, TFIIB, TFIID, TFIIE, TFIIF, and TFIIH. Each of these factors plays a specific role in the initiation of transcription, such as recognizing and binding to specific DNA sequences or modifying the chromatin structure around the promoter to make it more accessible to RNA polymerase II.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

"Sabinas brittle hair syndrome". Global Genes. Retrieved 2019-12-05. Itin P., Pittelkow M., Trichothiodystrophy: Review of ... Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive ... Trichothiodystrophy[2]. Copyright © 2005 Rare-Disorders.com Sabinas brittle hair syndrome is a form of nonphotosensitive ... Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. In a study by Howell et al. patients were ...
... trichothiodystrophy; note that disulfide bonds determine hair waviness).[citation needed] Platelets may be enlarged. The ... Rare syndromes, Syndromes with short stature, Syndromes with craniofacial abnormalities, Syndromes affecting the hepatobiliary ... February 1997). "Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis ... Tricho-hepato-enteric syndrome is estimated to affect 1 in 300,000 to 400,000 live births in Western Europe. This syndrome was ...
... trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome ... DeSanctis-Cacchione syndrome Genetic disorder Biogerontology Cockayne syndrome List of cutaneous conditions List of cutaneous ... Mutations in the XPB(ERCC3) gene can lead to XP or XP combined with Cockayne syndrome. The XPC protein forms a complex with ... Mutations in the XPG (ERCC5) gene can lead to XP alone, or in combination with Cockayne syndrome (CS), or in combination with ...
Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. ... Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple ... Cockayne syndrome))". Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH (July 2014). "A novel ... and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157-67. doi:10.1021/bi9524124. PMID 8652557. Park MS, ...
Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. PMID ... Cockayne's syndrome, and trichothiodystrophy. XPB has been shown to interact with: BCR gene, CDK7, ERCC2, GTF2H1, GTF2H2, ... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ... Mutations in the XPB(ERCC3) gene can lead, in humans, to xeroderma pigmentosum (XP) or XP combined with Cockayne syndrome (XPCS ...
Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. PMID ... There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome ( ... CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of ...
Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. ... syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3". Genomics. 23 (2): 486-9. ...
Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. ... Yu A, Fan HY, Liao D, Bailey AD, Weiner AM (May 2000). "Activation of p53 or loss of the Cockayne syndrome group B repair ... In humans, Cockayne syndrome (CS) is a rare autosomal recessive leukodystrophy (associated with the degradation of white matter ... Dianov G, Bischoff C, Sunesen M, Bohr VA (Mar 1999). "Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B ...
... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ... In humans, mutation in any one of four genes can give rise to the trichothiodystrophy phenotype. These genes are TTDN1, XPB, ... "Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy". J. Mol. Biol. ... "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 ( ...
... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ... Defects in GTF2H5 cause the disease trichothiodystrophy (TTD), therefore GTF2H5 (general transcription factor 2H subunit 5) is ...
... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ... and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157-67. doi:10.1021/bi9524124. PMID 8652557. Reardon JT, ...
... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ...
... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714-9. doi: ... "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase ... and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157-67. doi:10.1021/bi9524124. PMID 8652557. Reardon JT, ... "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 ( ...
July 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nature ...
Mutations in the ERCC2/XPD gene can lead to various syndromes, either xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or ... Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. ... photosensitive trichothiodystrophy, and Cockayne syndrome. Just like XPB, XPD is a part of human transcriptional initiation ... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nature Genetics. 36 (7): 714-9 ...
Cockayne syndrome, trichothiodystrophy). He found with Jean-Marc Egly that Transcription Factor II H (TFIIH) opens the DNA for ...
... trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, ... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ... Cockayne Syndrome is due to a defect in a protein necessary for the repair process, transcription coupled nucleotide excision ...
Five of them (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down's syndrome, and triple-A syndrome) have a ... German, J (Mar 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am J Hum ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ... Four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) are ...
Myelodysplastic syndrome and 5q-syndrome have also been linked to an upregulation of ZNF183, an alias of RNF113A. It appears ... "OMIM Entry - #300953 - TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5". OMIM. Retrieved 1 October 2015. Corbett, M. A.; Dudding ... Additional research conclude a cytosine to thymidine nonsense mutation such as that of trichothiodystrophy discussed above has ... Online Mendelian Inheritance in Man (OMIM) links mutation of RNF113A with trichothiodystrophy 5, nonphotosensitive. One case ...
Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) Trichothiodystrophy (TTD ... Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy ( ... syndrome, also known as neonatal progeroid syndrome, is an autosomal recessive progeroid syndrome. More than 30 cases have been ...
BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited ... Lambert WC, Gagna CE, Lambert MW (2010). "Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome". Adv Exp Med Biol. ... TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity ... is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. (Chong Hai Tay was the ...
... kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy. Examination of the hair shafts with a ...
... fragile X syndrome, Friedrich's ataxia, Huntington's disease, spinocerebellar ataxia type 1, trichothiodystrophy and xeroderma ... These syndromes include Aicardi-Goutieres syndrome, amyotrophic lateral sclerosis, ataxia-telangiectasia, Cockayne syndrome, ... Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen breakage syndrome Chromosome instability syndromes ... Chromosome instability syndromes due to impaired DNA repair and with features of neurodegeneration and epigenetic alteration ...
Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... hypersensitivity to UV and chemical agents Trichothiodystrophy: sensitive skin, brittle hair and nails Mental retardation often ... Humans born with inherited defects in DNA repair mechanisms (for example, Li-Fraumeni syndrome) have a higher cancer risk. The ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ...
... enteric syndrome Trichothiodystrophy Tricho-dento-osseous syndrome Tricho-rhino-phalangeal syndrome Trigeminal trophic syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... syndrome Rothmund-Thomson syndrome Werner syndrome Bloom syndrome Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy ... Seckel syndrome Ataxia telangiectasia Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Néstor-Guillermo progeria syndrome ... Progeroid syndromes are all examples of aging diseases where cell senescence appears to be implicated. Hutchinson-Gilford ... Carrero D, Soria-Valles C, López-Otín C (July 2016). "Hallmarks of progeroid syndromes: lessons from mice and reprogrammed ...
Mutations in the ERCC2(XPD) gene can lead to various syndromes, either xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or ... Iyama T, Wilson DM (2016). "Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome". J. Mol ... Koch S, Garcia Gonzalez O, Assfalg R, Schelling A, Schäfer P, Scharffetter-Kochanek K, Iben S (2014). "Cockayne syndrome ... Xeroderma pigmentosum and Cockayne's syndrome are two examples of NER associated diseases. Nucleotide excision repair is more ...
... a characteristic of Tay syndrome Trinidad and Tobago dollar, ISO 4217 currency code Terence Trent D'Arby, former stage name of ... a database to provide information about the known and explored therapeutic targets Trichothiodystrophy, ...
Netherton syndrome, Gaucher disease type 2, congenital hypothyroidism, Conradi syndrome, Dorfman-Chanarin syndrome, ... Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. Less well documented causes include Sjögren ... It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). The appearance is often described ... ketoadipiaciduria, koraxitrachitic syndrome, ichthyosis variegata and palmoplantar keratoderma with anogenital leukokeratosis. ...
... wooly hair syndrome, pili torti, pili annulati and trichothiodystrophy. It has also been proved trichoscopy can be useful in ... Rakowska A., Kowalska-Olędzka E., Słowińska M., Rosińska D., Rudnicka L.: Hair shaft videodrmoscopy in Netherton syndrome. ... Rakowska, A., Kowalska-Olędzka, E., Słowińska M., Rosińska D., Rudnicka L.: Hair shaft videodermoscopy in Netherton syndrome. ... Mycoplasma pneumoniae-induced pneumonia with Stevens-Johnson syndrome of acute atypical course. Pol Arch Med Wewn. 2008, 118 (7 ...
... nurse at the Rare Disease Centre which provides a national service for patients with Cockayne syndrome and trichothiodystrophy. ... which provides a national service for patients with Cockayne syndrome and trichothiodystrophy. ...
"Sabinas brittle hair syndrome". Global Genes. Retrieved 2019-12-05. Itin P., Pittelkow M., Trichothiodystrophy: Review of ... Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive ... Trichothiodystrophy[2]. Copyright © 2005 Rare-Disorders.com Sabinas brittle hair syndrome is a form of nonphotosensitive ... Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. In a study by Howell et al. patients were ...
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode ... xeroderma pigmentosum/trichothiodystrophy, cerebral-ocular-facial-skeletal syndrome (also known as Pena-Shokeir syndrome type ... trichothiodystrophy, xeroderma pigmentosum/trichothiodystrophy, cerebral-ocular-facial-skeletal syndrome ... Patients with XP/trichothiodystrophy syndrome present with clinical features of TTD and XP, including an increased frequency of ...
... progeroid syndromes and aging. DNA damage is associated with metabolic disorders, but the mechanism in unclear. Here, the ... Trichothiodystrophy (TTD; affected genes: Xpb, Xpd) or the XPF-ERCC1 syndrome (XFE; affected genes: Ercc1, Xpf)9,10,11. The ... A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 444, 1038-1043 (2006). ... A protein Kinase C phosphorylation motif in GLUT1 affects glucose transport and is mutated in GLUT1 deficiency syndrome. Mol. ...
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 ... Trichothiodystrophy. A few variants (also called mutations) in the GTF2H5 gene have been found to cause trichothiodystrophy. ... tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet. 2004 Jul;36(7):714-9 ... The hallmark of trichothiodystrophy is hair that is sparse and easily broken. Variants in this gene cause the photosensitive ...
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA repair defects and skin cancer ByColin F ... The Li-Fraumeni syndrome and the role of TP53 mutations in predisposition to cancer ByJillian M. Birch. ... Familial colon cancer syndromes and their genetics BySusan M. Farrington, Malcolm G. Dunlop. ... Retinoblastoma: the paradigm for a genetically inherited cancer syndrome ByChristopher Mitchell. ...
photosensitive trichothiodystrophy 3 Piepkorn Karp Hickok syndrome Pierpont syndrome Pierre Robin Sequence with Facial and ... urofacial syndrome + A syndrome that is characterized by inverted facial expressions in association with a severe and early- ... Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome ... urofacial syndrome (DOID:0050816). Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: ( ...
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience ... Nucleotide excision repair syndromes: molecular basis and clinical symptoms. Philos Trans R Soc Lond B Biol Sci ... Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell ...
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol. 2001;44:891-920.. ... Liang C, Kraemer KH, Morris A, et al Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy ... Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol. 2006;126:2210-2216.. ... Weathering of hair in trichothiodystrophy. Br J Dermatol. 1986;114(5):591-595.. ...
Cockayne Syndrome, or Trichothiodystrophy. No longer recruiting/follow-up only. 0-125 Years. NCI Hair. ... Protocol C614: An Open-Label Study of DCCR (Diazoxide Choline) Extended-Release Tablets in Patients with Prader-Willi Syndrome ... The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes.. Participants currently recruited/enrolled. 2-125 ... Birt-Hogg-Dub(SqrRoot)(Copyright) Syndrome: Characterization of the FLCN Disease Gene and Predisposition to Renal Cancer, ...
Differential diagnoses include trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome (COFS), UV-sensitive ... De Sanctis-Cacchione syndrome is a term that was originally attributed to XP cases with severe neurological abnormalities but ... syndrome, erythropoietic protoporphyria, and Rothmund-Thomson syndrome (see these terms).. Antenatal diagnosis Prenatal ...
Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ... Larregue M, Guillet G. [Collodion baby with neonatal signs of trichothiodystrophy misdiagnosed as Netherton syndrome: ... Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) * Sections Trichorrhexis Invaginata (Netherton Syndrome or Bamboo ... Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. Br J ...
... trichothiodystrophy (1, 1%), Pol III-related leukodystrophy (1, 1%), hypomyelinating leukodystrophy type 9 (1, 1%), and ... chromosome 18q deletion syndrome (1, 1%). Of the sample, 94% (112/119) of the patients were genetically diagnosed, including ...
... trichothiodystrophy (TTD), XP⁄TTD complex, XP⁄Cockayne syndrome (CS) complex or the cere... ... The term trichothiodystrophy (TTD) was introduced by Price et al in 1980(1) to describe a group of rare autosomal recessive ... Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene ... XP and Cockayne syndrome (CS) symptoms). We identified three cell lines of XPG-defective patients (X... ...
An inherited or congenital condition, such as loose anagen syndrome. Short broken hairs and empty follicles may be observed. If ... Fractures: trichorrhexis nodosa, trichoschisis, trichoclasis (trichothiodystrophy). *Irregularities: trichorrhexis invaginata ( ... Children with otherwise normal hair but that cannot grow their hair long may have short anagen syndrome. ... seen with ichthyosis in Netherton syndrome), Marie-Unna hypotrichosis (uncombable hair), pili bifurcati, pili annulati, ...
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode ... xeroderma pigmentosum/trichothiodystrophy, cerebral-ocular-facial-skeletal syndrome (also known as Pena-Shokeir syndrome type ... trichothiodystrophy, xeroderma pigmentosum/trichothiodystrophy, cerebral-ocular-facial-skeletal syndrome ... Patients with XP/trichothiodystrophy syndrome present with clinical features of TTD and XP, including an increased frequency of ...
UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome ... Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); ...
Cockayne syndrome (CS); and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two ... The breast cancer susceptibility protein Brca2 and the RecQ helicase BLM (Bloom syndrome mutated) are tumor suppressors that ...
Title: Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy ... TTD cases with mental retardation and decreased fertility but not in patients with Sabinas syndrome or Pollitt syndrome. ... as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease ... locus has been designated "TTDN1" (TTDnonphotosensitive 1). Mutations were found in patients with Amish brittle-hair syndrome ...
... we propose to validate diagnostic and severity scores for Cockayne syndrome. Clinical, imaging and genetic data were ... Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare ... and trichothiodystrophy (TTD) [3]. Recovery of RNA synthesis (RRS, decreased in CS) and unscheduled DNA synthesis (UDS, normal ... 1). XP, combined XP-CS, cerebro-oculo-facio-skeletal syndrome (COFS), UV-sensitive syndrome and TTD patients were completely ...
Allelic: Stickler syndrome, type II (COL11A1). * Allelic: Trichothiodystrophy 1, photosensitive (ERCC2). * Allelic: ... Branchiootorenal syndrome 1, with/-out cataracts (EYA1). *CATIFA syndrome: cleft lip, cataract, tooth abnormality, ID, face ... Kahrizi syndrome: mental retardation, cataracts, coloboma, kyphosis, coarse face (SRD5A3). *Knobloch syndrome, type 1 (COL18A1) ... Mitochondrial DNA depletion syndrome 4B, Alpers + MNGIE types (POLG). *Mitochondrial recessive ataxia syndrome, includes SANDO ...
The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600 (1 April, 2000) Free ... Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy (1 April, 2000) Free RAVI ... Mutation screening in Rett syndrome patients (1 April, 2000) Free Fengqing Xiang, Silvia Buervenich, Piero Nicolao, Mark E S ... Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q (1 April, 2000) Free S Pieke-Dahl, C G Möller, P ...
Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a ... Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular ... Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.. Kraemer KH, ... Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.. Martin GM. Adv Exp Med Biol 1985;190:161-70. doi: ...
Sotos Syndrome. *Trichothiodystrophy Syndromes. *Waardenburgs Syndrome. *Weill-Marchesani Syndrome. *Wolf-Hirschhorn Syndrome ... It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and ... "22q11 Deletion Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome. Am J Med Genet A. 2016 11; 170(11):2975- ...
Hutchinson-Gilford progeria syndrome) Rothmund-Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some ... Syndrome, Werner. Syndrome, Werners. Syndrome, Werners. Werners Syndrome. Werners Syndrome. Tree number(s):. C16.320.925. ... ... Werner SyndromeSyndromeAging, PrematureProgeriaBloom SyndromeRothmund-Thomson SyndromeGenomic InstabilityDown SyndromeMetabolic ... such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome ...
Trichothiodystrophy 4, nonphotosensitive, 234050, Autosomal recessive; TTD4 (BIDS syndrome) (MPLKIP gene) (Sequence Analysis- ...
SOX10: Waardenburg-Hirschsprung syndrome. *ERCC2, ERCC3, GTF2H5, MPLKIP: Trichothiodystrophy/Tay syndrome *RNF113A: ... Among the rest of hypomyelinating diseases, it is worth noting Pol III-associated disorders, Cockayne syndrome, ... POLR3A, POLR3B, POLR1C, POLR3K, POLR1A: POLR3-related disorders or 4H syndrome (hypomyelination, hypogonadotropic hypogonadism ... tricotiodystrophy with photosensitivity or Tay syndrome, hypomyelination with atrophy of the basal ganglia and cerebellum (H- ...
Netherton syndrome, Omenn syndrome, and eosinophilic gastroenteritis. Affected infants develop an acquired generalized ... Trichothiodystrophy. *Ectodermal dysplasia. *Maple syrup urine disease. *Cystic fibrosis. *Carbamoyl phosphate synthetase ...
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD ... Cockayne syndrome, or trichothiodystrophy. From Journal of Drugs in Dermatology, 3/1/04 This study is currently recruiting ...
National Specialist Service for Cockayne Syndrome (CS), Trichothiodystrophy (TTD) and Bloom Syndrome ...
  • Paula is a paediatric nurse and has been working with Dr Mohammad for the last two years at the Rare Disease Centre at St Thomas', which provides a national service for patients with Cockayne syndrome and trichothiodystrophy. (pagesuite.com)
  • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (medlineplus.gov)
  • Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. (biomedcentral.com)
  • Based on similar approaches in other neurodegenerative disorders, we propose to validate diagnostic and severity scores for Cockayne syndrome. (biomedcentral.com)
  • Cockayne syndrome (CS) is an autosomal recessive multisystem disorder characterized by mental retardation, microcephaly, severe growth failure, sensorial impairment, cutaneous photosensitivity, dental anomalies, recognizable facial appearance with enophtalmos [ 1 ]. (biomedcentral.com)
  • Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. (the-medical-dictionary.com)
  • It is well recognized that patients with Cockayne syndrome, another NER disorder, are at high risk of metronidazole-induced hepatotoxicity, but this had not been reported in individuals with other NER disorders. (bvsalud.org)
  • Xeroderma pigmentosum: its where to meet russian wealthy seniors in philippines overlap with trichothiodystrophy, Cockayne syndrome and other progeroid syndromes. (aitzol.com)
  • The model questionnaire is the same used for Cockayne syndrome patients. (geneskin.org)
  • Detailed protocols for evaluation of UDS, RRS and viability after UV irradiation and for complementation analysis are reported in the corresponding section in Cockayne syndrome card. (geneskin.org)
  • Patients with ataxia telangiectasia, also known as Louis-Bar syndrome, are hypersensitive to ionizing radiation, while patients with Bloom syndrome, Fanconi anemia, and xeroderma pigmentosum are sensitive to UV radiation. (medscape.com)
  • CS is related to defective DNA repair and transcription processes and belongs to the family of Nucleotide Excision Repair (NER) disorders together with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) [ 3 ]. (biomedcentral.com)
  • A teenage girl had the rare combined phenotype of xeroderma pigmentosum and trichothiodystrophy, resulting from mutations in the XPD (ERCC2) gene involved in nucleotide excision repair (NER). (bvsalud.org)
  • We would urge extreme caution in the use of metronidazole in the management of individuals with the xeroderma pigmentosum and trichothiodystrophy overlap or trichothiodystrophy phenotypes. (bvsalud.org)
  • A few variants (also called mutations) in the GTF2H5 gene have been found to cause trichothiodystrophy. (medlineplus.gov)
  • The Netherton syndrome (Mendelian Inheritance in Man [MIM] #256500) is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32). (medscape.com)
  • [ 18 ] Mutations in the SPINK5 gene in 13 families with Netherton syndrome were later reported. (medscape.com)
  • Mutations in EDAR explain 7% of HED and are associated with both autosomal dominant and recessive ED. This panel provide differential diagnostic power as it covers many syndromes that may present with ED. Several syndromes characterized by ED and hearing loss are associated with GJB2 mutations including KID syndrome, Vohwinkel syndrome, Bart-Pumphrey syndrome. (blueprintgenetics.com)
  • Recessive EVC and EVC2 mutations cause Ellis-van Creveld syndrome characterized by ED, dwarfism, polydactyly and heart defects, however, dominant mutations in the same genes cause the less severe Weyers acrofacial dysostosis. (blueprintgenetics.com)
  • Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (childrensmercy.org)
  • This, in turn, establishes chronic inflammation and tissue pathology in mice with important ramifications for DNA repair-deficient, progeroid syndromes and aging. (nature.com)
  • Using mice with an engineered ERCC1-XPF defect in tissue-infiltrating macrophages, we provide evidence for a fundamental mechanism by which irreparable DNA damage triggers an exosome-based, metabolic reprogramming that leads to chronic inflammation and tissue pathology in NER progeroid syndromes and likely also during aging. (nature.com)
  • Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. (wikipedia.org)
  • Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, an atopic diathesis, and a characteristic hair-shaft abnormality known as trichorrhexis invaginata. (medscape.com)
  • Leiner disease may not represent a distinct clinical entity because infants with the clinical phenotype have eventually been diagnosed with various other conditions, including congenital immunodeficiencies, Netherton syndrome , Omenn syndrome, and eosinophilic gastroenteritis . (logicalimages.com)
  • This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
  • Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (childrensmercy.org)
  • Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. (wikipedia.org)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • Skin manifestations and associated symptoms may vary considerably among individuals with Netherton syndrome. (medscape.com)
  • Cutaneous and systemic infections are common and disturbing consequences in almost all patients with Netherton syndrome. (medscape.com)
  • Emollients, keratolytics, and antibiotics are the mainstay of treatment in Netherton syndrome. (medscape.com)
  • [ 7 ] Further, larger studies are necessary to elucidate the safety and efficacy of pimecrolimus in Netherton syndrome patients. (medscape.com)
  • Wang S, Olt S, Schoefmann N, Stuetz A, Winiski A, Wolff-Winiski B. SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7. (medscape.com)
  • Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. (medscape.com)
  • The condition is occasionally referred to as Còmel-Netherton syndrome. (medscape.com)
  • [ 6 ] established the clinical relationship between ichthyosis linearis circumflexa and Netherton syndrome, and an atopic diathesis was found to occur in approximately 75% of patients with Netherton syndrome. (medscape.com)
  • Netherton syndrome is a rare autosomal recessive genodermatosis. (medscape.com)
  • The SPINK5 gene was mapped to the same region of 5q and, for functional reasons, was considered a candidate gene for Netherton syndrome. (medscape.com)
  • [ 19 ] studied steady-state levels of the mRNA encoding LEKTI (lymphoepithelial Kazal-type related inhibitor), the gene product of the SPINK5 gene, in cultured epidermal keratinocytes from a healthy control and 5 Netherton syndrome patients. (medscape.com)
  • Amino acid analyses of control hair when compared with those of patients with the Sabinas syndrome showed very striking differences with regard to content of sulphur amino acids. (wikipedia.org)
  • Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. (wikipedia.org)
  • Is ideal for patients with a clinical suspicion of ectodermal dysplasia (hidrotic or hypohidrotic) or Ellis-van Creveld syndrome. (blueprintgenetics.com)
  • The following are associated with this condition: argininosuccinic aciduria, Menke's kinky hair syndrome, Trichothiodystrophy, and Netherton's syndrome. (nextstepsinderm.com)
  • Netherton's syndrome. (medscape.com)
  • A clinico-statistical approach to its relationship with Netherton's syndrome. (medscape.com)
  • Pro9Glnfs*144) in the MPLKIP-gene, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4). (bvsalud.org)
  • GTF2H5 gene variants that cause trichothiodystrophy result in the production of a nonfunctional version of the TTDA protein. (medlineplus.gov)
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. (wikipedia.org)
  • Trichothiodystrophy represents a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. (wikipedia.org)
  • Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
  • Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. (bvsalud.org)
  • Trichothiodystrophy 1 (TTD1) is a rare, autosomal recessive, multisystem disorder characterized by the sulfur-deficient brittle hair, cutaneous photosensitivity, high risk of skin cancer, psychomotor retardation. (bvsalud.org)
  • Ectodermal Dysplasia (ED) is a group of closely related conditions of which more than 150 different syndromes have been identified. (blueprintgenetics.com)
  • This report adds to the literature by expanding the genetic and phenotypic spectra of MPLKIP-related trichothiodystrophy. (bvsalud.org)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • De Sanctis-Cacchione syndrome is a term that was originally attributed to XP cases with severe neurological abnormalities but it is no longer in general use. (orpha.net)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. (wikipedia.org)
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
  • enable for the organization within extremely complex syndrome groups. (docksci.com)
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
  • Review of literature reveals extensive associated findings in trichothiodystrophy. (wikipedia.org)
  • Some of the specific syndromes occur at relatively high rates in certain ethnic groups. (medscape.com)
  • Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur brittle hair syndrome is also important for genetic counseling. (wikipedia.org)
  • The hallmark of trichothiodystrophy is hair that is sparse and easily broken. (medlineplus.gov)
  • Children with otherwise normal hair but that cannot grow their hair long may have short anagen syndrome . (dermnetnz.org)
  • Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. (medlineplus.gov)
  • Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. (medlineplus.gov)
  • Clinical-based classifications improve syndrome identification and Ó 2014 Wiley Periodicals, Inc. (docksci.com)