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.
Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
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.
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.
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.
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.
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.
A characteristic symptom complex.
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.
Recession of the eyeball into the orbit.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
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.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Changes in the organism associated with senescence, occurring at an accelerated rate.
Enzymes that catalyze the hydrolysis of the internal bonds and thereby the formation of polynucleotides or oligonucleotides from ribo- or deoxyribonucleotide chains. EC 3.1.-.
An orphan nuclear receptor that has specificity for hormone response elements found in the promoters of target genes. It binds DNA either as a homodimer or as heterodimer with the closely-related orphan nuclear receptor NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1. The protein was originally identified as a TESTES-specific protein and is involved in the regulation of variety of cellular processes, including CELL DIFFERENTIATION; CELL PROLIFERATION; and APOPTOSIS.
A DNA-dependent RNA polymerase present in bacterial, plant, and animal cells. It functions in the nucleoplasmic structure and transcribes DNA into RNA. It has different requirements for cations and salt than RNA polymerase I and is strongly inhibited by alpha-amanitin. EC 2.7.7.6.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Proteins produced from GENES that have mutated by the fusing of protein coding regions of more than one gene. Such hybrid proteins are responsible for some instances of ANTIBIOTIC RESISTANCE and defective biological processes such as NEOPLASMS.
A ZINC FINGER MOTIF protein that recognizes and interacts with damaged DNA. It is a DNA-binding protein that plays an essential role in NUCLEOTIDE EXCISION REPAIR. Mutations in this protein are associated with the most severe form of XERODERMA PIGMENTOSUM.
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.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
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.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
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.
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.
Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
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 ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Established cell cultures that have the potential to propagate indefinitely.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
Congenital absence of or defects in structures of the eye; may also be hereditary.
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Ocular disorders attendant upon non-ocular disease or injury.
The segregation and degradation of damaged or unwanted cytoplasmic constituents by autophagic vacuoles (cytolysosomes) composed of LYSOSOMES containing cellular components in the process of digestion; it plays an important role in BIOLOGICAL METAMORPHOSIS of amphibians, in the removal of bone by osteoclasts, and in the degradation of normal cell components in nutritional deficiency states.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Facilities which provide information concerning poisons and treatment of poisoning in emergencies.

Base excision repair of oxidative DNA damage activated by XPG protein. (1/194)

Oxidized pyrimidines in DNA are removed by a distinct base excision repair pathway initiated by the DNA glycosylase--AP lyase hNth1 in human cells. We have reconstituted this single-residue replacement pathway with recombinant proteins, including the AP endonuclease HAP1/APE, DNA polymerase beta, and DNA ligase III-XRCC1 heterodimer. With these proteins, the nucleotide excision repair enzyme XPG serves as a cofactor for the efficient function of hNth1. XPG protein promotes binding of hNth1 to damaged DNA. The stimulation of hNth1 activity is retained in XPG catalytic site mutants inactive in nucleotide excision repair. The data support the model that development of Cockayne syndrome in XP-G patients is related to inefficient excision of endogenous oxidative DNA damage.  (+info)

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. (2/194)

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity. Cultured cells from sun-sensitive CS patients are hypersensitive to ultraviolet (UV) light and, following UV irradiation, are unable to restore RNA synthesis rates to normal levels. This has been attributed to a specific deficiency in CS cells in the ability to carry out preferential repair of damage in actively transcribed regions of DNA. We report here a cellular and molecular analysis of three Italian CS patients who were of particular interest because none of them was sun-sensitive, despite showing most of the features of the severe form of CS, including the characteristic cellular sensitivity to UV irradiation. They all were altered in the CSB gene. The genetically related patients CS1PV and CS3PV were homozygous for the C1436T transition resulting in the change Arg453opal. Patient CS2PV was a compound heterozygote for two new causative mutations, insertions of an A at position 1051 and of TGTC at 2053, leading to truncated proteins of 367 and 681 amino acids. These mutations result in severely truncated proteins, as do many of those that we previously identified in several sun-sensitive CS-B patients. These observations confirm that the CSB gene is not essential for viability and cell proliferation, an important issue to be considered in any speculation on the recently proposed additional function of the CSB protein in transcription. Our investigations provide data supporting the notion that other factors, besides the site of the mutation, influence the type and severity of the CS clinical features.  (+info)

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. (3/194)

The human XPB DNA helicase is a subunit of the DNA repair/basal transcription factor TFIIH, involved in early steps of the nucleotide excision repair pathway. Two distinct clinical phenotypes, xeroderma pigmentosum associated with Cockayne's syndrome (XP/CS) and trichothiodystrophy (TTD), can be due to mutations in the XPB gene. In the present work, we studied cellular DNA repair properties of skin fibro-blasts from two patients mutated in the XPB gene: an XP/CS patient cell (XPCS2BA) with a T296C (F99S) transition and a TTD patient cell (TTD6VI) exhibiting an A355C (T119P) transversion. Both cells are clearly associated with different levels of alterations in their response to UV light. To establish the relationship between the relative expression level of these two alleles and DNA repair properties, we transfected SV40-transformed XPCS2BA (XPCS2BASV) cells with a plasmid (pTTD6VI) carrying the XPB-A355C cDNA and examined DNA repair properties after UV irradiation (cell survival, unscheduled DNA synthesis and kinetics of photoproduct removal) in stable transfectants. We isolated three clones, which express the XPB-A355C gene (Cl-5) or the XPB-T296C gene (Cl-14) or both genes (Cl-19). This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD.  (+info)

Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription. (4/194)

Xeroderma pigmentosum (XP) is a rare hereditary human disorder clinically associated with severe sun sensitivity and predisposition to skin cancer. Some XP patients also show clinical characteristics of Cockayne syndrome (CS), a disorder associated with defective preferential repair of DNA lesions in transcriptionally active genes. Cells from the two XP-patients who belong to complementation group D and exhibit additional clinical symptoms of CS are strikingly more sensitive to the cytotoxic effects of UV-light than cells from classical XP-D patients. To explain the severe UV-sensitivity it was suggested that XP-D-CS cells have a defect in preferential repair of UV-induced 6-4 photoproducts (6-4PP) in active genes. We investigated the capacity of XP-D and XP-D-CS cells to repair UV-induced DNA lesions in the active adenosine deaminase gene (ADA) and in the inactive 754 gene by determining (i) the removal of specific lesions, i.e. cyclobutane pyrimidine dimers (CPD) and 6-4PP, or (ii) the formation of BrdUrd-labeled repair patches. No differences in repair capacity were observed between XP-D and XP-D-CS cells. In both cell types repair of CPD was completely absent whereas 6-4PP were inefficiently removed from the ADA gene and the 754 gene with similar kinetics. However, whereas XP-D cells were able to restore UV-inhibited RNA synthesis after a UV-dose of 2 J/m2, RNA synthesis in XP-D-CS cells remained repressed up to 24 h after irradiation. Our results are inconsistent with the hypothesis that differences in the capacity to perform preferential repair of UV-induced photolesions in active genes between XP-D and XP-D-CS cells are the cause of the extreme UV-sensitivity of XP-D-CS cells. Rather, the enhanced sensitivity of XP-D-CS cells may be associated with a defect in transcription regulation superimposed on the repair defect.  (+info)

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. (5/194)

Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD encodes a helicase subunit of the dually functional DNA repair/basal transcription complex TFIIH. The pleiotropic disease phenotype is hypothesized to be, in part, derived from a repair defect causing UV sensitivity and, in part, from a subtle, viable basal transcription deficiency accounting for the cutaneous, developmental, and the typical brittle hair features of TTD. To understand the relationship between deficient NER and tumor susceptibility, we used a mouse model for TTD that mimics an XPD point mutation of a TTD patient in the mouse germline. Like the fibroblasts from the patient, mouse cells exhibit a partial NER defect, evident from the reduced UV-induced DNA repair synthesis (residual repair capacity approximately 25%), limited recovery of RNA synthesis after UV exposure, and a relatively mild hypersensitivity to cell killing by UV or 7,12-dimethylbenz[a]anthracene. In accordance with the cellular studies, TTD mice exhibit a modestly increased sensitivity to UV-induced inflammation and hyperplasia of the skin. In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV- and 7,12-dimethylbenz[a]anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice. These findings open up the possibility that TTD is associated with a so far unnoticed cancer predisposition and support the notion that a NER deficiency enhances cancer susceptibility. These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis.  (+info)

Potential roles for p53 in nucleotide excision repair. (6/194)

Ultraviolet (UV) light-induced DNA damage is repaired by the nucleotide excision repair pathway, which can be subdivided into transcription-coupled repair (TCR) and global genome repair (GGR). Treatment of cells with a priming dose of UV light appears to stimulate both GGR and TCR, suggesting that these processes are inducible. GGR appears to be disrupted in p53-deficient fibroblasts, whereas the effect of p53 disruption on TCR remains somewhat controversial. Normal recovery of mRNA synthesis following UV irradiation is thought to depend on TCR. We have found that the recovery of mRNA synthesis following exposure to UV light is severely attenuated in p53-deficient human fibroblasts. Therefore, p53 disruption may lead to a defect in TCR or a post-repair process required for the recovery of mRNA synthesis. Several different functions of p53 have been proposed which could contribute to these cellular processes. We suggest that p53 could participate in GGR and the recovery of mRNA synthesis following UV exposure through the regulation of steady-state levels of one or more p53-regulated gene products important for these processes. Furthermore, we suggest that the role of p53 in the recovery of mRNA synthesis is important for resistance to UV-induced apoptosis.  (+info)

The interpretation of optical coherence tomography images of the retina. (7/194)

PURPOSE: To determine the relationship between optical coherence tomography (OCT) images of the retina and retinal substructure in vitro and in vivo. METHODS: In vitro, OCT images of human and bovine retina were acquired after sequential excimer laser ablation of the inner retinal layers. Measurements of bands in the OCT images were compared with measurements of retinal layers on histology of the ablated specimens. In vivo, OCT images were acquired of retinal lesions in which there was a displacement of pigmented retinal pigment epithelial (RPE) cells: retinitis pigmentosa and laser photocoagulation (eight eyes each). RESULTS: The mean thickness of human inner OCT bands (131 microm; 95% confidence interval [CI], 122-140 microm) was 7.3 times that of the retinal nerve fiber layer (RNFL). This band persisted despite ablation greater than 140 microm. The inner aspect of the outer OCT band corresponded to the apical RPE, but the mean thickness of this band in human tissue (55 microm; 95% CI, 48-62 microm) was 2.6 times the thickness of the RPE-choriocapillaris complex. OCT measurement of total retinal thickness was accurate (coefficient of variance, 0.05) and precise (coefficient of correlation with light microscopy, 0.98). Hyperpigmented lesions gave rise to high signal, attenuating deeper signal; hypopigmented lesions had the opposite effect on deeper signal. CONCLUSIONS: The inner band is not RNFL specific, partly consisting of a surface-related signal. The location, not thickness, of the outer band corresponds to RPE melanin. Given the additional effect of polarization settings, precise OCT measurement of specific retinal layers is currently precluded.  (+info)

Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. (8/194)

Proliferating cell nuclear antigen (PCNA), a processivity factor for DNA polymerases delta and epsilon, is essential for both DNA replication and repair. PCNA is required in the resynthesis step of nucleotide excision repair (NER). After UV irradiation, PCNA translocates into an insoluble protein complex, most likely associated with the nuclear matrix. It has not previously been investigated in vivo whether PCNA complex formation also takes place after oxidative stress. In this study, we have examined the involvement of PCNA in the repair of oxidative DNA damage. PCNA complex formation was studied in normal human cells after treatment with hydrogen peroxide, which generates a variety of oxidative DNA lesions. PCNA was detected by two assays, immunofluorescence and western blot analyses. We observed that PCNA redistributes from a soluble to a DNA-bound form during the repair of oxidative DNA damage. PCNA complex formation was analyzed in two human natural mutant cell lines defective in DNA repair: xeroderma pigmentosum group A (XP-A) and Cockayne syndrome group B (CS-B). XP-A cells are defective in overall genome NER while CS-B cells are defective only in the preferential repair of active genes. Immunofluorescent detection of PCNA complex formation was similar in normal and XP-A cells, but was reduced in CS-B cells. Consistent with this observation, western blot analysis in CS-B cells showed a reduction in the ratio of PCNA relocated as compared to normal and XP-A cells. The efficient PCNA complex formation observed in XP-A cells following oxidative damage suggests that formation of PCNA-dependent repair foci may not require the XPA gene product. The reduced PCNA complex formation observed in CS-B cells suggests that these cells are defective in the processing of oxidative DNA damage.  (+info)

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. Wikipedia Mutations in the ERCC8 (also known as CSA) gene or the ERCC6 (also known as CSB) gene are the cause of Cockayne syndrome. Mutations in the ERCC6 gene mutation makes up ~70% of cases.Wikipedia Cockayne syndrome patients appear to be particularly vulnerable to ...
A mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient. CSB-deficient mice exhibit all of the CS repair characteristics: ultraviolet (UV) sensitivity, inactivation of transcription-coupled repa …
In this report, we uncover a novel but important function of CSB in regulating the choice of DNA DSB repair pathways. Our work suggests that CSB facilitates BRCA1‐mediated HR repair by repressing the accumulation of NHEJ‐promoting factors 53BP1 and Rif1 at sites of DNA DSBs in S and G2 cells (Fig 8D). Furthermore, we have demonstrated that CSB is needed for maintaining the ATM‐ and Chk2‐mediated DNA damage checkpoint (Fig 8D), preventing premature entry of cells into mitosis following the induction of DNA DSBs.. We observed a large asymmetry in the ratio of targeting versus retargeting in the recovery of null clones. Although a large asymmetry in gene targeting typically is found to be associated with genes whose function is critical to cell viability (Dang et al, 2006; Hucl et al, 2008; Ruis et al, 2008; Oh et al, 2013), homozygous CSB mutations leading to the complete absence of CSB protein have been reported in patients (Horibata et al, 2004; Hashimoto et al, 2008; Laugel et al, ...
Sigma-Aldrich offers abstracts and full-text articles by [Morten Scheibye-Knudsen, Mahesh Ramamoorthy, Peter Sykora, Scott Maynard, Ping-Chang Lin, Robin K Minor, David M Wilson, Marcus Cooper, Richard Spencer, Rafael de Cabo, Deborah L Croteau, Vilhelm A Bohr].
Infobox_gene}} DNA excision repair protein ERCC-6 (also CS-B protein) is a [[protein]] that in humans is encoded by the ERCC6 [[gene]].,ref name=pmid1339317>{{cite journal , vauthors = Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH , title = ERCC6, a member of a subfamily of putative helicases, is involved in Cockaynes syndrome and preferential repair of active genes , journal = Cell , volume = 71 , issue = 6 , pages = 939-53 , date = Dec 1992 , pmid = 1339317 , pmc = , doi = 10.1016/0092-8674(92)90390-X , url = http://repub.eur.nl/pub/3041 }},/ref>,ref name=pmid19179336>{{cite journal , vauthors = Muftuoglu M, de Souza-Pinto NC, Dogan A, Aamann M, Stevnsner T, Rybanska I, Kirkali G, Dizdaroglu M, Bohr VA , title = Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase , journal = The Journal of Biological Chemistry , volume = 284 , issue = 14 , pages = 9270-9 , date = Apr 2009 , pmid = 19179336 , pmc = ...
Cockayne syndrome is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary retinopathy, birdlike facies, and photosensitivity. The syndrome is divided into 2 subtypes.
Cockayne Syndrome is a rare inherited disorder characterized by growth retardation, abnormal sensitivity to light (photosensitivity), and a prematurely aged appearance.
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cockayne syndrome type II
Cockayne syndrome is a devastating premature aging disorder characterized by extreme sun sensitivity and severe neurological and developmental defects. The majority of Cockayne syndrome cases are due to mutations within the ATP-dependent chromatin remodeler Cockayne syndrome protein B (CSB). CSB functions in transcription regulation and is required for transcription-coupled nucleotide excision repair (TC-NER). Importantly, CSB is also critical for the relief of oxidative stress. Studies suggest CSB may participate in the major repair pathway for oxidative DNA damage repair, base excision repair (BER), yet direct evidence supporting this hypothesis remains elusive and exactly how CSB functions in this process is unknown. CSB is also suggested to function in the relief of oxidative stress by regulating transcription. We demonstrated CSBs interaction with chromatin is stabilized by oxidative stress and the goal of this work is to understand the role of CSB in the relief of oxidative stress by
The XPA protein acts during NER as a scaffold for assembly of other DNA repair proteins at sites of DNA damage to ensure appropriate excision of the damage.[12]. The XPB (ERCC3) protein is employed in unwinding the DNA double helix after DNA damage is initially recognized. Mutations in the XPB(ERCC3) gene can lead to XP or XP combined with Cockayne syndrome.[13]. The XPC protein forms a complex with RAD23B protein to form the initial damage recognition factor in global genomic nucleotide excision repair (GG-NER).[14] This complex recognizes a wide variety of damages that thermodynamically destabilize DNA duplexes. The XPD (ERCC2) protein, in combination with the XPB helicase-containing transcription/repair complex TFIIH, is employed in unwinding the DNA duplex after damage is initially recognized. Mutations in the XPD(ERCC2) gene cause a variety of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS).[15][16] Both trichothiodystrophy and Cockayne syndrome ...
TEXTBOOKS. Rosser T and Pearl PL. Cerebro-Oculo-Facio-Skeletal Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003: 520-521.. Jones KL. Smiths recognizable patterns of human malformation, 4th ed. Philadelphia: WB Saunders, 1998.. JOURNAL ARTICLES. Graham JM, Anyan-Yeboa K, Raams A, et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 2001;69:291-300.. Meira LB, Graham JM, Greenberg CR, et al. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet 2000;66:1221-8.. Graham JR, Greenberg CR, Anyane-Yeboa K, et al. COFS syndrome caused by defective nucleotide excision repair . Am J Hum Genet 1998;63:A33.. Del Bigio MR, Greenberg CR, Rorke LB, et al. Neuropathologic findings in eight patients with cerebro-oculo-facio-skeletal (COFS) ...
Meira, LB, Graham, JM, Greenberg, CR, Busch, DB, Doughty, ATB, Ziffer, DW, Coleman, DM, Savre-Train, I and Friedberg, EC (2000) Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene ...
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Photograph: Standard range target, Permanent marker, Glock 43, 9 mm pistol.. To learn more about Cockayne Syndrome and how you can help, please visit Share and Care Network (US) or Amy and Friends (UK) for more information.. Ive been thinking about art and media. With all the talk of gun control in the news lately, its hard to avoid the question: To what extent are artists influenced by political agendas?. I know my choice to use a gun in this piece may set people off, but thats a risk Im willing to take. February 1st will mark 2 years since my little boy was killed by mutated genes.. Many artists have used controversial imagery in the name of social justice or progressive ideals. But thats not what Im doing.. The target is the canvas. Bullets are the medium. Shooting is the process.. No liberal agenda here. No conservative agenda, either.. Its an accurate reflection of my feelings about Cockayne Syndrome and what it did to my son.. And what its doing to children all over the world that ...
Photograph: Standard range target, Permanent marker, Glock 43, 9 mm pistol.. To learn more about Cockayne Syndrome and how you can help, please visit Share and Care Network (US) or Amy and Friends (UK) for more information.. Ive been thinking about art and media. With all the talk of gun control in the news lately, its hard to avoid the question: To what extent are artists influenced by political agendas?. I know my choice to use a gun in this piece may set people off, but thats a risk Im willing to take. February 1st will mark 2 years since my little boy was killed by mutated genes.. Many artists have used controversial imagery in the name of social justice or progressive ideals. But thats not what Im doing.. The target is the canvas. Bullets are the medium. Shooting is the process.. No liberal agenda here. No conservative agenda, either.. Its an accurate reflection of my feelings about Cockayne Syndrome and what it did to my son.. And what its doing to children all over the world that ...
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1783 Ape1 is the major human apurinic/apyrimidinic (AP) endonuclease, with significant functions in the repair of 3-oxidative DNA damages, such as phosphoglycolates, as well as 3-non-conventional ends. We have recently shown that besides processing AP and strand break damages in the context of duplex oligonucleotide substrates, Ape1 also cleaves efficiently at AP sites in single-stranded (ss) DNA regions. This includes the incision of AP sites in the ss portion of bubble- and fork-like DNA conformations. We are presently examining the role of DNA secondary structure on Ape1 incision efficiency of ss AP site-containing oligonucleotides. In addition, we are exploring the impact of the ss DNA binding protein RPA and the Cockayne syndrome B protein (CSB) on regulating Ape1 activity on ss and bubble-containing AP substrates. The biological ramifications of Ape1s ability to incise alternative DNA structural forms, particularly in the context of replication- or transcription-coupled repair, will be ...
Cockayne syndrome (CS) is a rare hereditary disorder in which infants suffer severe developmental and neurological alterations and early death. Two genes encoding RNA polymerase II cofactors, CSA and CSB, are mutated in this syndrome. CSA and CSB proteins are known to be involved in the transcriptio …
Unperturbed transcription of eukaryotic genes by RNA polymerase II (Pol II) is crucial for proper cell function and tissue homeostasis. However, the DNA template of Pol II is continuously challenged by damaging agents that can result in transcription impediment. Stalling of Pol II on transcription-blocking lesions triggers a highly orchestrated cellular response to cope with these cytotoxic lesions. One of the first lines of defense is the transcription-coupled nucleotide excision repair (TC-NER) pathway that specifically removes transcription-blocking lesions thereby safeguarding unperturbed gene expression. In this perspective, we outline recent data on how lesion-stalled Pol II initiates TC-NER and we discuss new mechanistic insights in the TC-NER reaction, which have resulted in a better understanding of the causative-linked Cockayne syndrome and UV-sensitive syndrome. In addition to these direct effects on lesion-stalled Pol II (effects in cis), accumulating evidence shows that ...
Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar ...
Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar ...
TY - JOUR. T1 - Sources and consequences of oxidative damage from mitochondria and neurotransmitter signaling. AU - Brennan-Minnella, Angela M.. AU - Arron, Sarah T.. AU - Chou, Kai ming. AU - Cunningham, Eric. AU - Cleaver, James E.. PY - 2016. Y1 - 2016. N2 - Cancer and neurodegeneration represent the extreme responses of growing and terminally differentiated cells to cellular and genomic damage. The damage recognition mechanisms of nucleotide excision repair, epitomized by xeroderma pigmentosum (XP), and Cockayne syndrome (CS), lie at these extremes. Patients with mutations in the DDB2 and XPC damage recognition steps of global genome repair exhibit almost exclusively actinic skin cancer. Patients with mutations in the RNA pol II cofactors CSA and CSB, that regulate transcription coupled repair, exhibit developmental and neurological symptoms, but not cancer. The absence of skin cancer despite increased photosensitivity in CS implies that the DNA repair deficiency is not associated with ...
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the classic or moderate form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other ...
Cyclooxygenase, Skin, Cell, Cyclooxygenase-2, Mice, DNA, Gene, Chromatin, Cockayne Syndrome, Excision Repair, Cancer, Gold, Nanoparticles, Silicon, and Tumor
The study is good news for children with Cockayne syndrome, because we do not currently have an effective treatment. Our study suggests that a high-fat diet can postpone aging processes. A diet high in fat also seems to postpone the aging of the brain. The findings therefore potentially imply that patients with Alzheimers and Parkinsons disease in the long term may benefit from the new knowledge, says Professor Vilhelm Bohr from the Center for Healthy Aging, University of Copenhagen and the National Institute of Health, who has headed the study. Our brain has a constant need for fuel in the form of either sugar or so-called ketones. Ketones are the brains fuel reserve, and, in particular, play an important role in periods of low blood sugar levels, e.g. if you are fasting. This is because the body breaks down fat if it needs sugar, and during this process it produces ketones. The researchers see a particular positive effect when the mice are given the so-called medium chain fatty acids - ...
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by Hankey, G.J and Eikelboom, J.W and Baker, R.I and Gelavis, A and Hickling, S.C and Jamrozik, K and van Bockxmeer, F.M and Vasikaran, S and Chen, C and Lees, K.R and Yi, Q and Algra, A and Wong, M.C and Cheung, R and Wong, L and Divjak, I and Ferro, J and de Freitas, G and Gommans, J and Groppa, S and Hill, M and Spence, J.D and Lisheng, L and Navarro, J and Ranawaka, U and Ricci, S and Schmidt, R and Slivka, A and Tan, K and Tsiskaridze, A and Uddin, W and Vanhooren, G and Xavier, D and Armitage, J and Hobbs, M and Le, M and Sudlow, C and Wheatley, K and Yi, Q and Brown, W and Bulder, M and Ho, W.K and Klijn, C.J.M and Koedam, E and Langton, P and Nijboer, E and Tuch, P and Pizzi, J and Tang, M and Alaparthi, R and Antenucci, M and Chew, Y and Chinnery, D and Cockayne, C and Holt, R and Loh, K and McMullin, L and Mulholland, G and Nahoo, B and Read, E and Smith, F and Yip, C.Y and Crimmins, D and Davis, T and England, M and Rakic, V and Schultz, D.W and Frayne, J and Bladin, C and Kokkinos, J ...
Looking for online definition of Cockaynes syndrome in the Medical Dictionary? Cockaynes syndrome explanation free. What is Cockaynes syndrome? Meaning of Cockaynes syndrome medical term. What does Cockaynes syndrome mean?
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DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23. Having 1 or more copies of a mutated ERCC6 causes Cockayne syndrome, type II. DNA can be damaged by ultraviolet radiation, toxins, radioactive substances, and reactive biochemical intermediates like free radicals. The ERCC6 protein is involved in repairing the genome when specific genes undergoing transcription (dubbed active genes) are inoperative; as such, CSB serves as a transcription-coupled excision repair protein, being one of the fundamental enzymes in active gene repair. CSB has been found to exhibit ATPase properties; there are contradictory publications regarding the effect of ATP concentration on CSBs activity. The most recent evidence suggests that ADP/AMP allosterically regulate CSB. As such, it has been speculated that CSB may promote protein complex formation at repair sites subject to the ...
Cataract & Dental Caries & Xeroderma Symptom Checker: Possible causes include Cockayne Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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Introduction: It is widely known that ventricular tachy-arrhythmias (VTs) are often observed in patients with cardiac sarcoidosis (CS) as one of the presentations of poor prognosis. However, the time-course and influencing factors of VTs after the introduction of corticosteroid therapy in CS patients remain to be elucidated.. Methods and Results: We examined the influence of steroid therapy on VTs in 68 consecutive CS patients in Tohoku University Hospital from October 1998 until September 2014 (57±11 years-old, M/F 18/50). CS was diagnosed based on the original guidelines for diagnosis of CS from the Japanese Ministry of Health and Welfare. Corticosteroid therapy was performed in all CS patients. VTs were defined as sustained ventricular tachycardia/fibrillation or appropriate ICD therapy events. During a mean follow-up of 5.5 years, 20 out of 68 patients (29%) experienced VTs after the initiation of corticosteroid therapy, and 14 (70%) of them had VTs in the first 12 months (Figure A). ...
The Danish study of positron emission tomography (PET)-CT versus conventional staging (CS) in non-small cell lung cancer has been reported twice now1 2 and corrected once.3. However, there are discrepancies in numbers between the manuscripts,1 2 which is surprising given the small number of patients (n=189) and centres (n=3). Was endoscopic ultrasonography done in 42 or 47 of 98 PET-CT patients, and in 30 or 35 of 91 CS patients? Was fine-needle aspiration done in 36 or 40 PET-CT patients, and in 24 or 29 CS patients?2 Was fine-needle aspiration positive in 16 or 19 PET-CT patients? Was mediastinoscopy positive in 10 or 12 CS patients? Can the authors explain the discrepancies and show how any reconciliation of the numbers affects the findings of each manuscript?. While the total downstaging in both groups was comparable (62% vs 71%, p=0.19), the implied downstaging in the PET-CT arm as a result of modalities other than PET-CT was significantly lower (41% vs 71%; p=0.001). One would have ...
Return to Progress index. 1. Virus-driven inflammation is associated with the development of bNAbs in spontaneous controllers of HIV. Dugast AS, Arnold K, Lofano G, Moore S, Hoffner M, Simek M, Poignard P, Seaman M, Suscovich T, Pereyra F, Walker BD, Lauffenburger D, Kwon D, Keele BF, Alter G. Clin Infect Dis. pubmed:28158448; doi:10.1093/cid/cix057. 2. Integrated assessment of diclofenac biotransformation, pharmacokinetics, and omics-based toxicity in a 3D human liver-immunocompetent co-culture system. Sarkar U, Ravindra KC, Large E, Young CL, Rivera-Burgos D, Yu J, Cirit M, Hughes DJ, Wishnok JS, Lauffenburger DA, Griffith LG, Tannenbaum SR. Drug Metab Dispos. pubmed:28450578; doi:10.1124/dmd.116.074005. 3. Swimming bacteria promote dispersal of non-motile staphylococcal species. Samad T, Billings N, Birjiniuk A, Crouzier T, Doyle PS, Ribbeck K. ISME J. pubmed:28398350; doi:10.1038/ismej.2017.23. 4. A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of ...
Between 2000 and 2014, in the USA, the percentage of patients with AMI-CS who developed multiple organ failure increased from 15.7% to 45.5%.
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1. The molecular basis for diseases in which the pathway of transcription-coupled DNA repair is defective, including Cockyne syndrome (CS) and UV-sensitive syndrome (UVSS). Patients are severely sensitive to sunlight but get no cancers. See Hanawalt & Spivak, 2008, for review ...
Do You Have Bonnevie-ullrich Syndrome? Join friendly people sharing true stories in the I Have Bonnevie-ullrich Syndrome group. Find support forums, advice and chat with groups who share this life experience. Bonnevie-Ullrich Syndrome anonymous suppo...
L to R) David Jeruzalmi, Danaya Pakotiprapha, and Martin Samuels. DNA damage is a fact of life for all living organisms. Some have estimated that each of our human cells absorbs thousands of damaging events each and every day. Left uncorrected, such damage can lead to permanent, disruptive, changes in the genome, and cause various diseases including cancer. Without an active method of patrolling the genome for damage, and repairing it when found, life on earth would not last very long. Thus, all organisms deploy a panoply of DNA repair pathways. One of these, the nucleotide excision repair (NER) pathway, is unique for its ability to repair a chemically diverse set of lesions that each alters the structure of DNA in profoundly different ways. Conserved throughout evolution, NER involves several major steps: genome scanning, damage recognition, incision, and repair synthesis. Mutations in this pathway give rise to many human diseases including xeroderma pigmentosum, Cockayne syndrome, and ...
Diffuse Hypomyelination & Hearing Impairment Symptom Checker: Possible causes include Fucosidosis & Cockayne Syndrome & Neonatal Adrenoleukodystrophy. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
In this prospective study, we found that genetic variants in two NER genes, ERCC6 and XPC, were associated with an altered risk of colorectal cancer. These findings suggest that common genetic polymorphisms in DNA repair genes may influence susceptibility to colorectal cancer and that individuals with ERCC6 1213G or XPC 492H variants may have an increased risk of colorectal cancer.. ERCC6 encodes the CSB protein, which is necessary for transcription-coupled repair. The precise role of CSB in transcription-coupled NER is still unclear; however, it may help initiate the repair process. The stalled RNA polymerase II is believed to act as a steric hindrance to the repair of damage on the actively transcribed gene, and CSB may be needed to displace or remove the stalled RNA polymerase II from the damage site to allow repair to occur (28). Recently, CSB has been shown to possess chromatin remodeling activities (29), suggesting that it may alter the chromatin structure at the damaged site to facilitate ...
5′ UTR of rpoD. DNA sequence alignments of the 5′ Untranslated Region (UTR) of (A)rpoD Group A and (B)rpoD Group B genes found in Ca. Phytoplasma austral
A golf tournament to benefit the Greater Clear Lake Families Exploring Down Syndrome is set for May 9 at Timber Creek Golf Club in Friendswood. Registration begins at 7 a.m., with a shotgun start at 8 a.m. For more information, call 832-457-2775 or visit www.clearlakeeds.org.
Skin securement has always been an essential final step in surgical procedures. Historically, the skin surface was sutured; in recent years a number of…
David E. Haines, Matthew Wright, Erik Harks, Szabolcs Deladi, Steven Fokkenrood, Rob Brink, Harm Belt, Alexander F. Kolen, Nenad Mihajlovic, Fei Zuo, Darrell Rankin, William Stoffregen, Debra Cockayne and Joseph Cefalu ...
View Notes - CSB349L5 from CSB CSB349 at University of Toronto. CSB349 Lecture 5 Transcription I: Genome structure and Transcription September 27th, 2010 The mechanisms of eukaryotic transcription.
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Acts 21 - After we tore ourselves away from them, we set sail straight for Cos, the next day to Rhodes, and from there to Patara.
This gene encodes a single-strand specific DNA endonuclease that makes the 3 incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011 ...
While investigating the novel anticancer drug ecteinascidin 743 (Et743), a natural marine product isolated from the Caribbean sea squirt, we discovered a new cell-killing mechanism mediated by DNA nucleotide excision repair (NER). A cancer cell line selected for resistance to Et743 had chromosome alterations in a region that included the gene implicated in the hereditary disease xeroderma pigmentosum (XPG, also known as Ercc5). Complementation with wild-type XPG restored the drug sensitivity. Xeroderma pigmentosum cells deficient in the NER genes XPG, XPA, XPD or XPF were resistant to Et743, and sensitivity was restored by complementation with wild-type genes. Moreover, studies of cells deficient in XPC or in the genes implicated in Cockayne syndrome (CSA and CSB) indicated that the drug sensitivity is specifically dependent on the transcription-coupled pathway of NER. We found that Et743 interacts with the transcription-coupled NER machinery to induce lethal DNA strand breaks.
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011 ...
Patients with XP, XP/CS, CS, or TTD of any age, gender, race or HIV status are eligible for this study. Patients will be sought by contacting professional organizations (such as the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP Society and the Share and Care CS Support Network) or by direct referral.. INCLUSION CRITERIA:. On referral, patients will be considered for inclusion in the study:. If they have clinical documentation of typical features of XP, XP/CS, CS or TTD or;. If they have laboratory documentation of defective DNA repair, or;. If they have some suggestive clinical features and are willing to participate in the study.. EXCLUSION CRITERIA:. Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies. ...
4122 Trabectedin is a natural marine-based compound derived from the Caribbean tunicate Ecteinascidia turbinata. Trabectedin displays potent anti-tumor activity in vitro in a variety of tumor cell lines derived from lung, prostate, ovarian, breast and skin cancers and is presently in Phase III clinical trials for the treatment of soft tissue sarcoma. Despite considerable data that has accumulated regarding the activities of trabectedin, the unique and seemingly novel mechanism(s) of action of this drug have not been fully elucidated. In vitro studies have shown that trabectedin can bind DNA in the minor grove, where it can both alkylate guanine residues and bend DNA toward the major groove. Studies in our laboratory and others have shown that trabectedin also has a unique ability to inhibit the activation of a number of promoters without affecting their constitutive expression. Finally, cells that are impaired in their transcription-coupled nucleotide excision repair mechanisms show a somewhat ...
Topical 5-fluorouracil (5-FU) is a topical chemotherapy agent used commonly to treat precancerous lesions known as actinic or solar keratoses. With regard to the treatment of true cancers, it is only effective for the superficial type basal cell carcinomas. It … Continue reading →. ...
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This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016 ...
Box-plots for protein peak comparison between TCM syndrome groups. Proteins m/z 1216 (a), m/z 3168 (b), and m/z 4187 (c) were in lower abundance in excess syndr
This is an unusual and unusually enjoyable book. It takes an unremittingly negative subject--disgusting things--and yet manages to shape an interesting, amusing, and thought-provoking read from it. It will not satisfy everyone, but a chapter or two should soon feature in most courses discussing urban life in early modern Europe.. Emily Cockaynes self-proclaimed ambition is to highlight the worst parts of urban life in seventeenth- and eighteenth-century England, to draw out those things that inspired disgust or repulsion, that discomforted or discombobulated the urban population (p. 1). To achieve this she has trawled through a good range of diaries and a slightly narrower cross-section of urban records (London, Oxford, Bath, and Manchester are the main locations discussed) and other materials to fish out views and experiences of what repelled and irritated contemporaries. Given that nuisances are defined by context and perception, her qualitative approach largely works. She then fashions a ...
CSB Investigator Johnnie Banks Discusses Ongoing Investigation into January 9, 2014, Catastrophic Chemical Leak at Freedom Industries in Charleston, WV ...
Cockayne syndrome[edit]. Main article: Cockayne syndrome. Cockayne syndrome (CS) is a rare autosomal recessive PS. There are ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... "Cockayne syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013.. *^ Nance, MA; Berry, SA (1992). "Cockayne syndrome ... Hutchinson-Gilford progeria syndrome, Werner syndrome, and Cockayne syndrome are the three genetic disorders in which patients ...
Weber-Cockayne syndrome: A form of epidermolysis bullosa. Named with Edward Alfred Cockayne. Parkes Weber syndrome: A rare ... His name is ascribed to several disorders such as: Klippel-Trénaunay-Weber syndrome: A rare syndrome characterized by enlarged ... Sturge-Weber syndrome: A congenital disorder involving the brain, skin and eyes. In 1922, Weber reported the first radiologic ... Thomas-Sohl, Kristin A; Vaslow, Dale F; Maria, Bernard L (May 2004). "Sturge-Weber syndrome: A review". Pediatric Neurology. 30 ...
Members 6 and 8 are associated with Cockayne syndrome. Wolfram Siede; Friedberg, Errol C.; Walker, Graham S. (1995). "Chapter 8 ...
Cockayne syndrome results from a mutation in genes that interfere with transcription-coupled repair of nuclear and ... "Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration". Mechanisms of ... Disconnection syndromes, defined as any neurologic disorder caused by an interruption in impulse transmission along cerebral ... disconnection syndromes, respiratory chain deficient neuron interaction, and lobectomies. Although there are different causes, ...
... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... Cockayne Syndrome is due to a defect in a protein necessary for the repair process, transcription coupled nucleotide excision ... Iyama T, Wilson DM (2016). "Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome". J. Mol ...
Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson-Gilford progeria syndrome) Rothmund- ... Iyama T, Wilson DM (2016). "Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome". J. Mol ... Cockayne Syndrome and trichothiodystrophy show mainly features of accelerated aging, but apparently without an increased risk ... Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some examples of DNA repair defects causing ...
... or XP combined with Cockayne syndrome. In addition to genetic variations, virus-encoded proteins also target TFIIH. TFIIH ... xeroderma pigmentosum without and with Cockayne syndrome". Human Mutation. 27 (11): 1092-103. doi:10.1002/humu.20392. PMID ...
These type of defects can result in other rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. ... BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited ... There is a photosensitive syndrome, PBIDS. BIDS is associated with the gene MPLKIP (TTDN1). IBIDS syndrome, following the ... is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. (Chong Hai Tay was the ...
... insights for transcription-coupled repair and Cockayne Syndrome". Molecular Cell. 20 (2): 187-98. doi:10.1016/j.molcel.2005.09. ...
Cockayne syndrome, Parkinson's disease and xeroderma pigmentosum. Axonal swelling, and axonal spheroids have been observed in ...
... or a combination of XP and Cockayne syndrome (XPCS).[15][16] Both trichothiodystrophy and Cockayne syndrome display features of ... Trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome, erythropoietic protoporphyria[4]. Treatment. ... or in combination with Cockayne syndrome (CS), or in combination with infantile lethal cerebro-oculo-facio-skeletal syndrome.[ ... Mutations in the XPB(ERCC3) gene can lead to XP or XP combined with Cockayne syndrome.[13] ...
Patients and Families affected by Xeroderma Pigmentosum and Cockayne Syndrome Carol Mary Matthews, Chief Executive, The ...
... resulting in increased skin cancer incidence and premature aging Cockayne syndrome: hypersensitivity to UV and chemical agents ... Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... 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 ...
Caesarean section, a surgical procedure to deliver one or more babies, or, rarely, to remove a dead fetus Cockayne syndrome, a ... and their synthetic analogues Cowden syndrome, a rare autosomal dominant inherited disorder (-)-camphene synthase, an enzyme CS ...
... cockayne syndrome MeSH C05.116.099.343.347 - congenital hypothyroidism MeSH C05.116.099.343.445 - dwarfism, pituitary MeSH ... Klippel-Feil syndrome MeSH C05.116.099.370.652 - orofaciodigital syndromes MeSH C05.116.099.370.797 - Rubinstein-Taybi syndrome ... Hajdu-Cheney syndrome MeSH C05.116.099.105 - basal-cell nevus syndrome MeSH C05.116.099.343 - dwarfism MeSH C05.116.099.343.110 ... Felty's syndrome MeSH C05.550.114.154.683 - rheumatoid nodule MeSH C05.550.114.154.774 - Sjögren syndrome MeSH C05.550.114.154. ...
... polyneuropathy Chronic pain Cluster Headache Cockayne syndrome Coffin-Lowry syndrome Coma Complex regional pain syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Shaken baby syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Snatiation Sotos syndrome ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ...
... a psychological stress questionnaire Clinical Skills Assessment exam Cockayne syndrome A or ERCC8, a gene whose mutation causes ... Cockayne syndrome Cognitive styles analysis, a computerized measure of cognitive styles Cyclosporin A, an immunosuppressant ...
... branchio-oto-renal syndrome MeSH C16.131.077.250 - Cockayne syndrome MeSH C16.131.077.262 - cri du chat syndrome MeSH C16.131. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... WAGR syndrome MeSH C16.320.180.970 - Williams syndrome MeSH C16.320.240.500 - achondroplasia MeSH C16.320.240.562 - cockayne ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ...
... football coach from Argentina Cockayne syndrome B, a human gene mutations in which are one cause of Cockayne syndrome ...
Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-nonenal ...
Cockayne syndrome - coenzyme Q10 - cohort study - COL-3 - cold nodule - Coley's toxins - collagen disease - collagenase - ... FAMMM syndrome - Fanconi anemia - Fanconi syndrome - FAP - fatty-replaced breast tissue - fazarabine - fecal occult blood test ... multiple endocrine neoplasia syndrome - multiple endocrine neoplasia type 1 syndrome - multiple myeloma - multiple sclerosis - ... Peutz-Jeghers syndrome - phagocyte - pharmacokinetics - phase I trial - phase I/II trial - phase II trial - phase II/III trial ...
ERCC8 interacts with Cockayne syndrome type B (CSB) protein, with p44 (GTF2H2), a subunit of the RNA polymerase II ... and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157-67. doi:10.1021/bi9524124. PMID 8652557.. ...
... including Alport syndrome, Alström syndrome, Bardet-Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia congenita, ... Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome or dystrophia ... Flynn-Aird syndrome, Friedreich ataxia, Hurler syndrome (MPS-1), Kearns-Sayre syndrome (CPEO), Norrie syndrome, osteopetrosis ( ... People with Usher syndrome represent roughly one-sixth of people with retinitis pigmentosa. Usher syndrome is named after the ...
Accelerated aging disease Biogerontology Cockayne syndrome DNA repair Degenerative disease Genetic disorder Life extension ... Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with ... Werner syndrome (WS) (sometimes Werner's syndrome), also known as "adult progeria", is a rare, autosomal recessive disorder ... Werner syndrome patients often have skin that appears shiny and tight, and may also be thin or hardened. This is due to atrophy ...
Cockayne syndrome II, or Severe Cockayne Syndrome: in which facial and somatic abnormalities are present at birth. Death ... Additional information on Cockayne's Syndrome (PDF) Edward Alfred Cockayne @ Who Named It NHM Cockayne Lepidoptera collection. ... This disease has since been divided into three subtypes: Cockayne syndrome I, or Classic Cockayne Syndrome: in which facial and ... Cockayne syndrome III: milder than Cockayne I & II, and its onset happens later than the other two types. In 1933 he published ...
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 ... Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They ...
This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome.) The name ... Other syndromes with clinical features similar to Nijmegen Breakage Syndrome include RAD50 deficiency and Cernunnos/NHEJ ... "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child. 82 (5): 400-6. 2000. doi ... Group, The International Nijmegen Breakage Syndrome Study (2000-05-01). "Nijmegen breakage syndrome". Archives of Disease in ...
Cunningham, R., A. Cockayne, et al. (1996). "Clinical and molecular aspects of the pathogenesis of Staphylococcus aureus bone ... Toxic shock syndrome toxin (TSST) is a superantigen with a size of 22 kDa produced by 5 to 25% of Staphylococcus aureus ... Toxic shock syndrome toxin 1 (TSST-1), a prototype superantigen secreted by a Staphylococcus aureus bacterium strain in ... TSST-1 is a bacterial exotoxin found in patients who have developed toxic shock syndrome (TSS), which can be found in ...
Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... "Cockayne syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. Nance, MA; Berry, SA (1992). "Cockayne syndrome: ... Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... Branchio-oculo-facial syndrome. References[edit]. *^ a b "Branchiootorenal syndrome". Genetics Home Reference. 2015-11-23. ... Diagnosis of BO syndrome or BOR syndrome is clinical, ie based on observing an appropriate combination of symptoms[7]. Only ... The disease may then be termed Branchio-oto Syndrome (BO syndrome)[4]. ...
Chronic fatigue syndrome. *Chronic inflammatory demyelinating polyneuropathy. *Chronic pain. *Cluster Headache. *Cockayne ... and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various ...
உணவுக்குழாய் அழற்சி (கண்டிடா, கேர்ப்பிசு) · கிழிவு (Boerhaave syndrome, Mallory-Weiss syndrome) · மேல் இறுக்கி (Zenker's ... Huwez FU, Thirlwell D, Cockayne A, Ala'Aldeen DA (December 1998). "Mastic gum kills Helicobacter pylori [Letter to the editor, ... Blind loop syndrome · விப்பிள் நோய் · Short bowel syndrome · Steatorrhea · Milroy disease ... Cholecystitis · பித்தப்பைக்கல்s/பித்தப்பைக்கல் · Cholesterolosis · Rokitansky-Aschoff sinuses · Postcholecystectomy syndrome · ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... Seckel syndrome. 210600. People with Seckel syndrome are noted to have microcephaly. Many also suffer from scoliosis, hip ... Meier-Gorlin syndrome. 224690. Individuals with Meier-Gorlin syndrome often have small ears and no kneecaps. They are also ... Like Russell-Silver syndrome, they usually exceed the height of those with Seckel syndrome and ODPDI and II. It is also known ...
Huwez FU, Thirlwell D, Cockayne A, Ala'Aldeen DA (1998). "Mastic gum kills Helicobacter pylori [Letter to the editor, not a ... Campylobacteriosis, Guillain-Barré syndrome. *Helicobacter pylori *Peptic ulcer, MALT lymphoma, Gastric cancer ...
... deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and ... One study has also linked abnormal 5-HT2A polymorphisms which may enhance receptor activity with chronic fatigue syndrome.[94] ... Patients with Tourette's syndrome have also been scanned and the study found an increased binding of altanserin for patients ... "Cerebral 5-HT2A receptor binding is increased in patients with Tourette's syndrome". The International Journal of ...
Cockayne S, Curran M, Denby G, Hashmi F, Hewitt C, Hicks K, Jayakody S, Kang'ombe A, McIntosh C, McLarnon N, Stamuli E, Thomas ... Papular purpuric gloves and socks syndrome. Polyomaviridae. *Merkel cell polyomavirus *Merkel cell carcinoma ...
A description of the syndrome and preliminary findings with light therapy". Archives of General Psychiatry. 41 (1): 72-80. doi: ... Dumville, J. C.; Miles, J. N.; Porthouse, J.; Cockayne, S.; Saxon, L.; King, C. (2006). "Can vitamin D supplementation prevent ...
... disorders include narcolepsy, periodic limb movement disorder (PLMD), restless leg syndrome (RLS), upper airway ... The Land of Cockaigne by Pieter Bruegel the Elder, 1567.. Research suggests that sleep patterns vary significantly across ... resistance syndrome (UARS), and the circadian rhythm sleep disorders. Fatal familial insomnia, or FFI, an extremely rare ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by excessive physical ... "Sotos syndrome". Genetics Home Reference.. *^ Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. (April 2002 ... "Sotos Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.. ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. ... OSLAM syndrome. References[edit]. *^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the ... Li-Fraumeni syndrome (LFS) is relatively rare;[clarification needed] as of 2011, cases had been reported in more than 500 ...
Wang EC, Lee JM, Ruiz WG, Balestreire EM, von Bodungen M, Barrick S, Cockayne DA, Birder LA, Apodaca G (2005). „ATP and ... Role of Prasugrel, a Novel P2Y12 Receptor Antagonist, in the Management of Acute Coronary Syndromes. American Journal of ...
Huwez FU, Thirlwell D, Cockayne A, Ala'Aldeen DA (December 1998). "Mastic gum kills Helicobacter pylori". The New England ... Zollinger-Ellison syndrome, Crohn disease, and liver cirrhosis.[1][3] Older people are more sensitive to the ulcer-causing ... Zollinger-Ellison syndrome), or rare gastrin-secreting tumors, also cause multiple and difficult-to-heal ulcers.[27] ... as seen in Valentino's syndrome. Posterior gastric wall perforation may lead to bleeding due to the involvement of ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... type 4 - Goodman syndrome;[10][11] now classified with Carpenter syndrome[12] ... DDB Apert syndrome *^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical ... a b Online Mendelian Inheritance in Man (OMIM) Pfeiffer syndrome -101600 *^ Online Mendelian Inheritance in Man (OMIM) ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... Like other imprinting disorders (e.g. Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver- ... Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism or Russell-Silver syndrome (RSS) is a growth disorder ... In the United States it is usually referred to as Russell-Silver syndrome, and Silver-Russell syndrome elsewhere. It is one of ...
Cockayne syndrome, Parkinson's disease and xeroderma pigmentosum.[17][16] Axonal transport[edit]. Axonal swelling and spheroids ...
1q21.1 deletion syndrome. *Aarskog-Scott syndrome. *Cockayne syndrome. *Cornelia de Lange Syndrome ... It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome.[2][9][ ... Maternal diabetes mellitus has been associated with caudal regression syndrome and sirenomelia,[3][4] although a few sources ... Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together. ...
"Identical mutations in the CSB gene associated with either Cockayne syndrome or the de Sanctis-Cacchione variant of xeroderma ... "Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma ... DeSanctis-Cacchione syndrome or Xeroderma pigmentosum is a Genetic disorder characterized by the skin and eye symptoms of ... "Orphanet: De Sanctis Cacchione syndrome". www.orpha.net. Retrieved 11 October 2019. Rapini, Ronald P.; Bolognia, Jean L.; ...
... lissencephaly with abnormal genitalia Aicardi-Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome ... Syndromes Chromosomal Poland syndrome Down syndrome Edward syndrome Patau syndrome Unbalanced rearrangements Contiguous gene ... Williams syndrome) 22q11 deletion (DiGeorge syndrome) Single gene defects Smith-Lemli-Opitz syndrome Seckel syndrome Cornelia ... Miller-Dieker syndrome) Single gene defects Rett syndrome (primarily girls) Nijmegen breakage syndrome X-linked ...
... became the first scientist to identify the Hallermann-Streiff syndrome, in Arnsberg, Germany (d. 1975) Died: Sam Browne, 76, ... English classical composer Edward Elgar completed writing the Cockaigne Overture. La Nación, a newspaper in Buenos Aires, ...
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight ... medlineplus.gov/genetics/condition/cockayne-syndrome/ Cockayne syndrome. ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it ... Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as CSB) or the ERCC8 gene (also known as CSA ...
Cockayne syndrome is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by ... Cockayne Syndrome) and Cockayne Syndrome What to Read Next on Medscape. Related Conditions and Diseases. * Cockayne Syndrome ... The syndrome is divided into two subtypes. Cockayne syndrome I, or classic Cockayne syndrome, presents in childhood with ... Cockayne syndrome I (CS-A) manifests in childhood. Cockayne syndrome II (CS-B) manifests at birth or in infancy, and it has a ...
... syndrome, Pena-Shokeir type 2 syndrome); Cockayne syndrome type 3, a milder form; and xeroderma pigmentosa-Cockayne syndrome ( ... spans a spectrum that includes Cockayne syndrome type 1, the classic form; Cockayne syndrome type 2, a more severe form with ... Cockayne syndrome (CS) spans a spectrum that includes Cockayne syndrome type 1, the classic form; Cockayne syndrome type 2, a ... Pena-Shokeir type 2 syndrome); Cockayne syndrome type 3, a milder form; and xeroderma pigmentosa-Cockayne syndrome (XP-CS). The ...
Cockayne Syndrome. GENEREVIEWS. Last Revision: 15 October 2001 12pp.. Carter SM, Gross SJ. Cockayne Syndrome. eMedicine Journal ... Subdivisions of Cockayne Syndrome. *Classical Form, Cockayne Syndrome Type I (Type A) ... Other symptoms of Cockayne Syndrome may include an abnormal blue tint to the skin (cyanosis) on the arms and legs, which may ... Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three ...
Observational Study to Assess Natural History in Cockayne Syndrome Patients. *Cockayne Syndrome ... Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome. *Cockayne ... a single IV dose of Osmitrol to single and multiple oral doses of Prodarsan in pediatric patients with Cockayne Syndrome ... Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne ...
Genetics Home Reference related topics: Cockayne syndrome Genetic and Rare Diseases Information Center resources: Cockayne ... Syndrome. Cockayne Syndrome. Disease. Pathologic Processes. Dwarfism. Bone Diseases, Developmental. Bone Diseases. ... Metabolic Study of Cockayne Syndrome (METABO-CS). The safety and scientific validity of this study is the responsibility of the ... Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision ...
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder ... Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. ... Mutations in the ERCC8 (also known as CSA) gene or the ERCC6 (also known as CSB) gene are the cause of Cockayne syndrome. ... Cockayne syndrome patients appear to be particularly vulnerable to chemotherapeutic cisplatin-induced hearing loss.[PMID ...
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe ... Cockayne syndrome: Clinical features, model systems and pathways Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08. ... Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe ... Cockayne Syndrome* / diagnosis * Cockayne Syndrome* / genetics * Cockayne Syndrome* / physiopathology * Cockayne Syndrome* / ...
"Cockayne Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Cockayne Syndrome" was a major or minor topic ... Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the ... "Cockayne Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. Proc Natl Acad Sci U S A. 2014 Oct 07; ...
Transcription-coupled repair in yeast is independent from ubiquitylation of RNA pol II: Implications for Cockaynes syndrome. ... Damage-Induced Ubiquitylation of Human RNA Polymerase II by the Ubiquitin Ligase Nedd4, but Not Cockayne Syndrome Proteins or ... Transcription-coupled repair in yeast is independent from ubiquitylation of RNA pol II: Implications for Cockaynes syndrome ... Transcription-coupled repair in yeast is independent from ubiquitylation of RNA pol II: Implications for Cockaynes syndrome ...
Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide ... Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency Proc Natl Acad Sci U S A. 2016 Sep 6;113( ... Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide ...
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc ... Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J. Child Neurol. 21:991-1006.. *CrossRef, ... Cockayne syndrome in three sisters with varying clinical presentation. Am. J. Med. Genet. 111:81-85.. Direct Link: ... Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am. J. Med ...
What is Cockaynes syndrome? Meaning of Cockaynes syndrome medical term. What does Cockaynes syndrome mean? ... Looking for online definition of Cockaynes syndrome in the Medical Dictionary? Cockaynes syndrome explanation free. ... Cockaynes syndrome. Cockaynes syndrome. [kok·ānz′] Etymology: Edward Alfred Cockayne, English physician, 1880-1956 ... Freeman-Sheldon syndrome, Hurlers syndrome, and Cockaynes syndrome.. Airway management of the severely retrognathic child: ...
Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.. [ ... Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegeneration, cachexia, and ...
Syndrome. Skin Neoplasms. Ichthyosis. Xeroderma Pigmentosum. Cockayne Syndrome. Trichothiodystrophy Syndromes. Skin Diseases, ... Genetics Home Reference related topics: Cockayne syndrome Trichothiodystrophy Xeroderma pigmentosum Genetic and Rare Diseases ... Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. ... Proportion of patients with four rare genetic diseases; xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex ...
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... Nucleic Acids Research 35(15): 4941- ... The Cockayne Syndrome group B (CSB) protein plays important roles in transcription, transcription-coupled nucleotide excision ... Cockayne Syndrome Protein B Interacts with and Is Phosphorylated by c-Abl Tyrosine Kinase. ...
Franqueira Cardoso Lopes, Amanda (2018). A Caenorhabditis elegans model for Cockayne Syndrome. [Thesis Abstract] ...
This proposal focuses on potential treatments for Cockayne Syndrome (CS), a rare congenital DNA repair defect, where loss of ... Cells from Cockayne syndrome patients are unable to effectively repair UV ... ... Cells from Cockayne syndrome patients are unable to effectively repair UV damaged DNA bases, or DNA adducts, in the actively ... Cockayne Syndrome Network. Am Projekt beteiligte Personen. Dr. Nicolas Thomä, Friedrich Miescher Instittute for Biomedical ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cockayne syndrome ... Cockayne syndrome type B; Cockayne syndrome type 2; Cockayne syndrome type 2 ... Cockayne Syndrome. 2016; http://ghr.nlm.nih.gov/condition/cockayne-syndrome. *Laugel V. Cockayne Syndrome. Gene Reviews. June ... Cockayne syndrome type 1 (type A), sometimes called "classic" or "moderate" Cockayne syndrome, diagnosed during early childhood ...
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc ... Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. Proc Natl Acad Sci U S A 2016;113:10151-6 ... Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol 2006;21:991-1006.doi: ... Cockayne syndrome: Clinical features, model systems and pathways. Ageing Res Rev 2017;33:3-17.doi:10.1016/j.arr.2016.08.002 ...
Arabidopsis Cockayne Syndrome A-Like Proteins 1A and 1B Form a Complex with CULLIN4 and Damage DNA Binding Protein 1A and ... Arabidopsis Cockayne Syndrome A-Like Proteins 1A and 1B Form a Complex with CULLIN4 and Damage DNA Binding Protein 1A and ... Arabidopsis Cockayne Syndrome A-Like Proteins 1A and 1B Form a Complex with CULLIN4 and Damage DNA Binding Protein 1A and ... Arabidopsis Cockayne Syndrome A-Like Proteins 1A and 1B Form a Complex with CULLIN4 and Damage DNA Binding Protein 1A and ...
Since Cockayne syndrome has multiple phenotypes, the pathophysiological symptoms of Cockayne syndrome patients are rather ... Cockayne syndrome is a rare autosomal recessive disease with a mutation on DNA repair genes against UV induced DNA lesions. ... We success to established mild and severe Cockayne syndrome model cells using CRISPR system against CSB gene, and found the ... Abnormal transcriptional regulation in Cockayne syndrome and its effect on neuronal differentiation. Research Project ...
... trichothiodystrophy and Cockayne syndrome is presented in this excellent review article.) Nance, MA, Berry, SA. "Cockayne ... Sordo, M, Zamora, E, Perez, L, Barrios, B. "Cockaynes syndrome: a case report. Literature review". Med Oral Pathol Oral Cir ... Cockayne syndrome is characterized by a wide spectrum of clinical phenotypes. It is therefore not surprising that some patients ... Ozdirim, E, Topcu, M, Ozon, A, Cila, A. "Cockayne syndrome: review of 25 cases". Ped Neurol. vol. 15. 1996. pp. 312-316. ...
Cockayne disease explanation free. What is Cockayne disease? Meaning of Cockayne disease medical term. What does Cockayne ... Looking for online definition of Cockayne disease in the Medical Dictionary? ... Cockayne syndrome. (redirected from Cockayne disease) Cock·ayne syn·drome. (kokān), [MIM*216400 and MIM*216411] dwarfism, ... Cockayne disease - Synonym(s): Cockayne syndrome. Cockayne syndrome - dwarfism, senile appearance, pigmentary degeneration of ...
MalaCards based summary : Cockayne Syndrome B, also known as cockayne syndrome type ii, is related to cockayne syndrome type ... Diseases in the Cockayne Syndrome family:. Cockayne Syndrome B Cockayne Syndrome a ... MalaCards integrated aliases for Cockayne Syndrome B:. Name: Cockayne Syndrome B 56 73 29 6 ... Cockayne Syndrome Type Iii Diseases related to Cockayne Syndrome B via text searches within MalaCards or GeneCards Suite gene ...
These four types are Cockayne Syndrome Type I, Cockayne Syndrome Type II, Cockayne Syndrome Type III, and Xeroderma pigmentosum ... Types of Cockayne Syndrome. Cockayne Syndrome has four distinct phenotypic classifications. ... ghr.nlm.nih.gov/condition/cockayne-syndrome#inheritance. [5] Laugel V. 2000. Cockayne Syndrome. GeneReviews [Internet]. Seattle ... Mutations in this ERCC6 gene affects the viability of the CSB protein and is the cause of Cockayne Syndrome Type II. Cockayne ...
Cockayne syndrome[edit]. Main article: Cockayne syndrome. Cockayne syndrome (CS) is a rare autosomal recessive PS. There are ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... "Cockayne syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013.. *^ Nance, MA; Berry, SA (1992). "Cockayne syndrome ... Hutchinson-Gilford progeria syndrome, Werner syndrome, and Cockayne syndrome are the three genetic disorders in which patients ...
The interaction networks between humans and mice show similarities, but also a few significant differences. Both interaction networks had the same two parameters (confidence above 0.900 and show 10 of the first shell), yet some different proteins and differences in GO terms appeared. The human ERCC6 network had two proteins that the mouse network did not: XAB2, a transcription-coupled repair binding protein, and TP53, tumor protein p53. The mouse network had Kat2b, a histone acetyltransferase, and ERCC1, an endonuclease responsible for the 5 incision during DNA repair. In humans, all but one protein (TBP) are involved in nucleotide excision repair, while 5 of the proteins in mice are involved in nucleotide excision repair. Perhaps most interesting for the analysis of ERCC6s role in oxidative damage repair are the proteins found in the mice network that have biological process GO terms of "aging" and "response to oxidative stress". The presence of these GO terms suggests a possible association ...
Background: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ERCC6/ ... N2 - Background: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ... AB - Background: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ... Cho S, Traboulsi EI, Chiang J, Sierpina D. Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic ...
  • Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. (harvard.edu)
  • Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide excision repair (NER) pathway, which repairs DNA damage from UV exposure. (nih.gov)
  • 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. (clinicaltrials.gov)
  • These four types are Cockayne Syndrome Type I, Cockayne Syndrome Type II, Cockayne Syndrome Type III, and Xeroderma pigmentosum-Cockayne Syndrome. (weebly.com)
  • Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum - Cockayne syndrome (XP-CS), restrictive dermopathy (RD), and Hutchinson-Gilford progeria syndrome (HGPS). (wikipedia.org)
  • COFS syndrome can be further subdivided into several conditions (COFS types 1, 2, 3 (associated with xeroderma pigmentosum ) and 4). (wikimd.org)
  • Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from xeroderma pigmentosum, another DNA repair disease. (wikimd.org)
  • Most known PS are due to genetic mutations that lead to either defects in the DNA repair mechanism or defects in lamin A/C. Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum-Cockayne syndrome (XP-CS), restrictive dermopathy (RD), and Hutchinson-Gilford progeria syndrome (HGPS). (wikipedia.org)
  • Human DNA polymerase η (pol η) can replicate across UV-induced pyrimidine dimers, and defects in the gene encoding pol η result in a syndrome called xeroderma pigmentosum variant (XP-V). XP-V patients are prone to the development of cancer in sun-exposed areas, and cells derived from XP-V patients demonstrate increased sensitivity to UV radiation and a higher mutation rate compared with wild-type cells. (pnas.org)
  • Human DNA polymerase η (pol η) is an important enzyme that replicates across pyrimidine dimers introduced by UV radiation ( 3 ), and defects in the gene encoding pol η result in xeroderma pigmentosum variant (XP-V) syndrome ( 3 , 4 ). (pnas.org)
  • Nouspikel, T., Lalle, P., Leadon, S.A., Cooper, P.K., and Clarkson S.G. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function . (unige.ch)
  • In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). (genome.jp)
  • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. (genome.jp)
  • Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as CSB ) or the ERCC8 gene (also known as CSA ). (medlineplus.gov)
  • High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. (medscape.com)
  • Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (medscape.com)
  • Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes . (nih.gov)
  • Background: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ERCC6/CSB or ERCC8/CSA genes. (elsevier.com)
  • Here, we describe two sisters with Cockayne syndrome caused by compound heterozygous mutations in the ERCC8 gene using multimodal imaging. (elsevier.com)
  • Conclusion: The clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in the ERCC8 gene on chromosome 10. (elsevier.com)
  • The ERCC8 gene provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged DNA. (nih.gov)
  • Researchers have identified more than 30 ERCC8 gene mutations that can cause Cockayne syndrome. (nih.gov)
  • The mechanism by which ERCC8 gene mutations lead to Cockayne syndrome is not well understood. (nih.gov)
  • At least one mutation in the ERCC8 gene can cause UV-sensitive syndrome, a condition characterized by unusual sensitivity to UV rays from the sun. (nih.gov)
  • Zhang H, Gao J, Ye J, Gong Z, Gu X. Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome. (medscape.com)
  • The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome , a rare autosomal recessive syndrome that is usually fatal in childhood. (thefreedictionary.com)
  • Watson having classic Cockayne's syndrome is much less than 1%, so finding ho mozygous changes to his ERCC6 gene via genetic screening does not significantly change the disease probability. (thefreedictionary.com)
  • An important gene associated with Cockayne Syndrome B is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are TCR Signaling (Qiagen) and DNA Double-Strand Break Repair . (malacards.org)
  • Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene (Licht et al. (malacards.org)
  • One of the initial proteins that recruits this complex is called Cockayne Syndrome B (CSB), which is encoded by the ERCC6 gene [2]. (weebly.com)
  • Mutations in this ERCC6 gene affects the viability of the CSB protein and is the cause of Cockayne Syndrome Type II. (weebly.com)
  • Much of this damaged DNA is a result of UV exposure, which explains why mutations in ERCC6 that knock out CSB function lead to extreme photosensitivity, one of the most common symptoms of Cockayne Syndrome. (weebly.com)
  • Eighty percent of CS cases are caused by mutations in a gene called ERCC6 , with codes for a protein called Cockayne Syndrome B (CSB). (ucsd.edu)
  • Cockayne syndrome, xeroderma pigmentosa, and trichothiodystrophy are 3 distinct syndromes with cellular sensitivity to ultraviolet (UV) irradiation. (medscape.com)
  • Progressive sensorineural deafness is an early feature of both Cockayne syndrome and xeroderma pigmentosa, but not trichothiodystrophy. (medscape.com)
  • Furthermore, the main neuropathology of xeroderma pigmentosa is a primary neuronal degeneration, while in Cockayne syndrome and trichothiodystrophy, myelination of the brain is reduced, suggesting that the neurological abnormalities may be caused by both developmental defects and faulty DNA repair of neuronal cells damaged by oxidative stress. (medscape.com)
  • now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders. (rarediseases.org)
  • Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. (snpedia.com)
  • Progeroid syndromes ( PS ) are a group of rare genetic disorders which mimic physiological aging , making affected individuals appear to be older than they are. (wikipedia.org)
  • They also compared Cockayne syndrome to what is now known as Hutchinson-Gilford progeria syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders. (wikimd.org)
  • All genetically transmitted disorders or syndromes are essentially caused by a mutation that has been sustained because of a lack of DNA repair, which has then been transmitted to the next generation. (medscape.com)
  • His name is ascribed to several disorders such as: Klippel-Trénaunay-Weber syndrome: A rare syndrome characterized by enlarged veins and arteries, limb hypertrophy and capillary malformations. (wikipedia.org)
  • COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome. (rarediseases.org)
  • Symptoms of the following disorders can be similar to those of oculo-facio-skeletal syndrome. (rarediseases.org)
  • Also covered are chromosome instability syndromes, mutagen-induced chromosome damage in lymphocytes and the role of cytogenetics in the assessment of haematological disorders. (booktopia.com.au)
  • Overall, the total number of children and youth identified with a prenatal congenital or postnatal non-congenital etiology has declined from 2,732 to 2,551 over the past five years, while the number with hereditary syndromes and disorders has increased from 3,945 to 4,482. (nationaldb.org)
  • Hereditary syndrome and disorders now account for 44.8% of all identified etiologies. (nationaldb.org)
  • Talenti G, Robson C, Severino MS, Alves CA, Chitayat D, Damoush H, Smith L, Muntoni F, Blaser SI, D'Arco F. Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in a-Dystroglycan-Related Muscular Disorders. (childrenshospital.org)
  • In Cockayne syndrome II, the defective CS group B protein, an SNF2-family DNA-dependent ATPase, is implicated in transcription elongation, transcription coupled repair, and DNA base excision repair. (medscape.com)
  • Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. (sigmaaldrich.com)
  • The Cockayne Syndrome group B (CSB) protein plays important roles in transcription, transcription-coupled nucleotide excision repair and base excision DNA repair. (harvard.edu)
  • The point mutations observed in Cockayne syndrome render the CSA protein complexes non-functional. (grstiftung.ch)
  • Through forward genetic screening, we identified a UV-B-sensitive mutant ( csaat1a-3 ) in Arabidopsis thaliana , in which expression of CSAat1A , encoding a Cockayne Syndrome A-like protein, is reduced due to insertion of a T-DNA in the promoter region. (plantcell.org)
  • This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. (receptome.org)
  • Loss of the Cockayne syndrome‐mutated CSB protein, best understood for its roles in transcription‐coupled nucleotide excision repair, leads to attenuation of DNA damage checkpoint responses and reveals a CSB role in DNA double‐strand break repair pathway choice. (embopress.org)
  • It is unclear exactly how an abnormal CSA protein causes the signs and symptoms of UV-sensitive syndrome. (nih.gov)
  • Kamiuchi S, Saijo M, Citterio E, de Jager M, Hoeijmakers JH, Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. (nih.gov)
  • Cockayne syndrome B (CSB), best known for its role in transcription-coupled nucleotide excision repair (TC-NER), contains a ubiquitin-binding domain (UBD), but the functional connection between protein ubiquitylation and this UBD remains unclear. (figshare.com)
  • The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. (springer.com)
  • It is named after English physician Edward Alfred Cockayne (1880-1956) who first described it in 1936 and re-described in 1946. (wikimd.org)
  • Named with Edward Alfred Cockayne. (wikipedia.org)
  • Cockayne Syndrome (CS) is a rare form of dwarfism. (rarediseases.org)
  • The major characteristics of Cockayne Syndrome include the stunting of normal growth (dwarfism) during late infancy, extreme sensitivity to light (photosensitivity), and a prematurely aged appearance (progeroid). (rarediseases.org)
  • Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. (nih.gov)
  • an autosomal-recessive syndrome of dwarfism with retinal atrophy and deafness, associated with progeria, prognathism, mental retardation, and photosensitivity. (thefreedictionary.com)
  • In 1936, E.A. Cockayne described a syndrome characterized by cachectic dwarfism, deafness, and pigmentary retinal degeneration with a characteristic "salt and pepper" appearance of the retina. (dermaamin.com)
  • Cockayne syndrome or CS is a form of premature aging dwarfism that ages the organs of its victims. (blogspot.com)
  • Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. (medlineplus.gov)
  • In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. (rarediseases.org)
  • The symptoms of all forms of Cockayne Syndrome are similar. (rarediseases.org)
  • Other symptoms of Cockayne Syndrome may include an abnormal blue tint to the skin (cyanosis) on the arms and legs, which may also feel cold to the touch. (rarediseases.org)
  • The symptoms of Cockayne Syndrome that affect the eyes (ocular) may include progressive clouding of the lens of the eyes (cataracts), loss of vision because of the wasting of the nerve fibers within the eyes (optic atrophy), degeneration of the retina, and/or the abnormal accumulation of retinal coloration (pigmentation). (rarediseases.org)
  • Since Cockayne syndrome has multiple phenotypes, the pathophysiological symptoms of Cockayne syndrome patients are rather complicated. (nii.ac.jp)
  • Cockayne Syndrome B, also known as cockayne syndrome type ii , is related to cockayne syndrome type iii and de sanctis-cacchione syndrome , and has symptoms including seizures , ataxia and dry skin . (malacards.org)
  • A child with Cockayne Syndrome may only have a few of these symptoms, and they are seen in differing degrees from child to child. (bluepurpleandscarlett.com)
  • The signs and symptoms of Cockayne syndrome are usually apparent from infancy and worsen over time. (cdc.gov)
  • It wouldn't be an anti-aging drug-again, aging isn't a disease-but would instead get approved to treat a rare, genetic disease in kids called Cockayne syndrome … which, yes, has symptoms that look a lot like premature aging. (wired.com)
  • An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). (rarediseases.org)
  • This proposal focuses on potential treatments for Cockayne Syndrome (CS), a rare congenital DNA repair defect, where loss of genome maintenance systems gives rise to growth defects, neurological abnormalities and accelerated aging. (grstiftung.ch)
  • COFS syndrome with microcephaly and severe mental retardation and CAMFAK syndrome of congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis 73 have some similar features. (dermaamin.com)
  • Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, early-onset (not necessarily congenital ) cataracts, mild to severe intellectual disability, hypotonia, and muscle weakness. (nih.gov)
  • Sturge-Weber syndrome: A congenital disorder involving the brain, skin and eyes. (wikipedia.org)
  • Parkes Weber syndrome: A rare congenital vascular malformation. (wikipedia.org)
  • Some conditions such as Congenital Rubella Syndrome have high risk for late onset of cataracts and glaucoma. (tsbvi.edu)
  • Congenital Rubella Syndrome (CRS), which has long been associated with the development of the deaf-blind technical assistance system, is no longer a prevalent etiology. (nationaldb.org)
  • Cockayne syndrome (CS) (OMIM #216400 and #133540) is a rare autosomal recessive disorder characterised by severe developmental delay, mental retardation, microcephaly, cachexia and a variety of other features, which may include cataracts, retinal degeneration, sensorineural hearing loss, dental anomalies and photosensitivity. (bmj.com)
  • 2003). For a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see 216400. (malacards.org)
  • CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. (nih.gov)
  • Cockayne syndrome is an autosomal recessive disorder. (medscape.com)
  • Werner syndrome (WS) is a rare autosomal recessive disorder. (wikipedia.org)
  • Cockayne syndrome (CS) is an autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associated with premature aging caused by defects in the UV-induced DNA damage repair system, particularly the transcription-coupled nucleotide excision repair . (bvsalud.org)
  • Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. (harvard.edu)
  • The faulty DNA repair underlies photosensitivity in affected individuals, and researchers suspect that it also contributes to the other features of Cockayne syndrome. (medlineplus.gov)
  • Other features of Cockayne Syndrome may include a decrease in the amount of sweating (hypohidrosis), lack of proper tearing in the eyes, and/or the premature graying of the hair. (rarediseases.org)
  • Additionally, it is unknown why the Trp361Cys mutation causes photosensitivity without the other features of Cockayne syndrome (described above). (nih.gov)
  • People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. (medlineplus.gov)
  • However, in people with Cockayne syndrome, DNA damage is not repaired normally. (medlineplus.gov)
  • Metronidazole can cause life-threatening liver problems in people with Cockayne syndrome. (emedicinehealth.com)
  • Premature death: The characteristic appearance of aging in children with Cockayne syndrome is striking. (medscape.com)
  • Children with Cockayne Syndrome have unusual physical features including an abnormally small head (microcephaly), an unusually thin nose, a "hollow" or sunken appearance to the eyes, large misshapen ears, poor eyelid closure, and/or the abnormal forward projection of both the upper and lower jaws (prognathism). (rarediseases.org)
  • Renal Involvement in 2 Siblings With Cockayne Syndrome. (pubfacts.com)
  • Cockayne syndrome II, or severe Cockayne syndrome, presents at birth with accelerated facial and somatic features. (medscape.com)
  • Cockayne syndrome is a rare disease which causes short stature , premature aging ( progeria ), severe photosensitivity , and moderate to severe learning delay. (nih.gov)
  • We success to established mild and severe Cockayne syndrome model cells using CRISPR system against CSB gene, and found the difference between mild and severe model cells upon cell differentiation inducing factors. (nii.ac.jp)
  • Its first product for Cockayne disease , a rare genetic disease in which children suffer from accelerated ageing while developing severe ageing diseases, is in late stage preclinical development. (thefreedictionary.com)
  • 52 Cockayne syndrome is a rare disease which causes short stature , premature aging (progeria ), severe photosensitivity , and moderate to severe learning delay. (malacards.org)
  • 56 Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by Mallery et al. (malacards.org)
  • Cockayne syndrome is not associated with skin cancer, despite the photosensitivity and DNA repair defect, unlike xeroderma pigmentosa. (medscape.com)
  • We report these two cases and a review of the literature in order to attract attention to Cockayne syndrome so that early diagnoses can be made in children with psychomotor development delay, premature aging and photosensitivity. (scielo.org.co)
  • Individuals who are affected with Cockayne syndrome I typically have progressive neurologic degeneration with death occurring by the second or third decade of life, whereas patients with Cockayne syndrome II typically die by age 6-7 years. (medscape.com)
  • Patients with Cockayne syndrome I have progressive, unremitting, neurologic deterioration usually leading to death by the second or third decade of life. (medscape.com)
  • Patients with Cockayne syndrome II typically have a worse prognosis, with death occurring earlier, typically by age 6 or 7 years. (medscape.com)
  • It is likely that CS type II includes some patients previously diagnosed with cerebro-oculo-facial syndrome (COFS) and Pena-Shokeir type II syndrome due to the identification of a common gene defect in these patients. (rarediseases.org)
  • Cockayne syndrome patients appear to be particularly vulnerable to chemotherapeutic cisplatin -induced hearing loss. (snpedia.com)
  • We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, TTD, XP/TTD and other overlap syndromes to follow their clinical course. (clinicaltrials.gov)
  • Cells from Cockayne syndrome patients are unable to effectively repair UV damaged DNA bases, or DNA adducts, in the actively transcribed DNA strand. (grstiftung.ch)
  • TTD encompasses patients who have been described as Amish brittle hair syndrome, Sabinas brittle hair syndrome, or Pollitt syndrome. (dermaamin.com)
  • Cockayne syndrome type A: novel mutations in eight typical patients. (nih.gov)
  • Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome. (pubfacts.com)
  • Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum. (medlineplus.gov)
  • There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child's development and is generally a milder form of the disease. (rarediseases.org)
  • Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. (snpedia.com)
  • Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegeneration, cachexia, and accelerated aging. (sigmaaldrich.com)
  • Cockayne syndrome is a rare autosomal recessive disease with a mutation on DNA repair genes against UV induced DNA lesions. (nii.ac.jp)
  • Cockayne syndrome (CS) is rare genetic disease with a spectrum of clinical features. (psychiatryadvisor.com)
  • Florid intracranial calcification in children is caused by birth anoxia, Cockayne disease , tuberous sclerosis, or infections such as toxoplasmosis or cytomegalovirus. (thefreedictionary.com)
  • Cockayne Syndrome is a rare, autosomal recessive, neurodegenerative disorder split into four distinct types based on age of disease onset. (weebly.com)
  • Werner syndrome is inherited in an autosomal recessive manner, which means both parents must contribute a dysfunctional allele for an individual to develop the disease. (wikipedia.org)
  • The National Initiative for Cockayne Syndrome (NCIS) is hosting The Bash for Cockayne Syndrome in the hopes of funding medical education to support early diagnosis and research needed to find a viable treatment for this disease. (iheart.com)
  • [6] These two scientists described the case of two brothers with Cockayne syndrome and asserted it was the same disease described by Cockayne. (wikimd.org)
  • [7] COFS syndrome is named so due to the effects it has on the brain, eyes, face, and skeletal system, as the disease frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis. (wikimd.org)
  • Cockayne syndrome is a rare disease because both parents have to carry the mutated gene. (blogspot.com)
  • Cockayne syndrome is a rare autosomal recessive disease characterized by a complex clinical phenotype. (elsevier.com)
  • However, it remains to be established that this is a primary molecular defect in Cockayne syndrome cells and that it explains the complex clinical phenotype associated with the disease. (elsevier.com)
  • Osler-Weber-Rendu disease: A syndrome characterised by small enlarged blood vessels near the surface of the skin (telangiectasia), as well as the oral, nasal and gastrointestinal mucous membranes. (wikipedia.org)
  • Polycystic Ovary Syndrome is kind of disease with unclear etiology. (bioportfolio.com)
  • Considerable evidence supports the association between insulin resistance and vascular disease, and this has led to wide acceptance of the clustering of hyperlipidemia, glucose intolerance, hypertension, and obesity as a clinical entity, the metabolic syndrome. (jci.org)
  • Some are very rare, with less than five individuals reported nationally, such as Batten disease, Prader-Willi, and Kearns-Sayre syndrome. (nationaldb.org)
  • Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. (medlineplus.gov)
  • The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (medlineplus.gov)
  • Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. (medscape.com)
  • These syndromes arise from mutations of genes critical for nucleotide-excision repair and RNA transcription. (medscape.com)
  • Cockayne syndrome group A or B ( CSA or CSB ) genes are required for transcription-coupled repair, a subpathway of nucleotide-excision repair. (medscape.com)
  • To explore the new function of Cockayne synfrome genes, we investigated the cell-differentiation experiments using SH-SY5Y cells. (nii.ac.jp)
  • There are five genes encoding RecQ in humans (RECQ1-5), and defects in RECQL2/WRN, RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively. (wikipedia.org)
  • The mutation of specific genes in Cockayne syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood. (wikimd.org)
  • An alternative hypothesis is that Cockayne syndrome cells have a defect in transcription affecting the expression of certain genes, which is compatible with embryogenesis but not with normal post-natal development. (elsevier.com)
  • COFS syndrome has been found to be associated with mutations in genes responsible for repairing DNA damage. (rarediseases.org)
  • 53 Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. (malacards.org)
  • A patient with COFS syndrome was reported with a defect in CSB 73 and another with a defect in XPD. (dermaamin.com)
  • This specific type has also been designated as cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome Type II. (wikimd.org)
  • COFS syndrome is inherited as an autosomal recessive genetic trait. (rarediseases.org)
  • Individuals with COFS syndrome show progressive deterioration and rarely survive beyond seven years. (rarediseases.org)
  • Children with various features common to both COFS Syndrome and Neu-Laxova syndrome have also been described in the medical literature. (rarediseases.org)
  • Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (medlineplus.gov)
  • Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, developmental and neurological delays, and a shortened lifespan. (iheart.com)
  • Mutations of CSB account for the majority of Cockayne syndrome (CS), a devastating hereditary disorder characterized by physical impairment, neurological degeneration and segmental premature aging. (embopress.org)
  • Neu-Laxova syndrome is an autosomal recessive genetic disorder characterized by growth retardation before birth and multiple abnormalities at birth. (rarediseases.org)
  • [1] [2] The term progeroid syndrome does not necessarily imply progeria ( Hutchinson-Gilford progeria syndrome ), which is a specific type of progeroid syndrome. (wikipedia.org)
  • Segmental progeria, which is more frequently associated with the term progeroid syndrome , tends to affect multiple or all tissues while causing affected individuals to exhibit only some of the features associated with aging. (wikipedia.org)
  • The most widely studied of the progeroid syndromes are Werner syndrome and Hutchinson-Gilford progeria, as they are seen to most resemble natural aging. (wikipedia.org)
  • A large body of evidence supports the theory that genomic instability acts as a causative factor in the aging process, which is evident from the fact that most mouse models of premature aging as well as human progeria syndromes are related to defects in mechanisms of genomic maintenance [ 2 ]. (hindawi.com)
  • [6] Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. (wikimd.org)
  • Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. (bmj.com)
  • Potter syndrome (bilateral renal agenesis) is a rare condition characterized by a flattened face with a "parrot-beak" nose, wide-set eyes and abnormalities of the eyelids, unusual smallness of the jaw and low-set, floppy ears. (rarediseases.org)
  • Diseases associated with PGBD3 include Cockayne Syndrome B and De Sanctis-Cacchione Syndrome . (genecards.org)
  • Cockayne syndrome type 2 presents at birth, whereas Cockayne syndrome type 1 appears during early childhood. (medscape.com)
  • Weber-Cockayne syndrome: A form of epidermolysis bullosa. (wikipedia.org)
  • Cockayne's syndrome: literature review and case report. (springer.com)
  • A DNA repair defect is a prominent feature of Cockayne syndrome. (medscape.com)
  • Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither? (elsevier.com)
  • Fingerprint Dive into the research topics of 'Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither? (elsevier.com)
  • They affect only one tissue and can be classified as unimodal progeroid syndromes. (wikipedia.org)
  • [3] Progeroid syndromes have been widely studied in the fields of aging, regeneration , stem cells , and cancer . (wikipedia.org)
  • One of the main causes of progeroid syndromes is genetic mutations , which lead to defects in the cellular processes which repair DNA . (wikipedia.org)
  • Some examples of DNA repair defects causing progeroid syndromes in humans or mice are shown in Table 1. (wikipedia.org)
  • Vilhelm Bohr's lab at the NIH studies aging by looking at genetic diseases like Cockayne. (wired.com)
  • From ASD (Autism Spectrum Disorder) to ZS (Zellweger Syndrome), there seems to be an alphabet disorder for almost every behavior, from those caused by serious, rare genetic diseases to more common learning disabilities that hinder children's academic and social progress. (ubcpress.ca)
  • Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair. (clinicaltrials.gov)
  • Weidenheim KM, Dickson DW, Rapin I. Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. (medlineplus.gov)
  • Cockayne Syndrome is a rare genetic disorder causing premature aging in children. (bluepurpleandscarlett.com)
  • Additionally, there exists a rare form of xerodema pigmentosum- Cockayne syndrome (XP/CS) complex. (bvsalud.org)
  • Cockayne syndrome I, or classic Cockayne syndrome, presents in childhood with characteristic facies and somatic features that occur late in the first decade of life. (medscape.com)
  • Cerebro-oculo-facio-skeletal syndrome was first described in 1974. (rarediseases.org)
  • Infants with cerebro-oculo-facio-skeletal syndrome usually have so-called "rocker bottom" feet and a groove over the length of the soles of the feet. (rarediseases.org)
  • Children with cerebro-oculo-facio-skeletal syndrome have an increased vulnerability to respiratory infections. (rarediseases.org)
  • Cerebro-oculo-facio-skeletal syndrome is an autosomal recessive genetic disorder. (rarediseases.org)
  • Cerebro-oculo-facio-skeletal syndrome is a very rare disorder present at birth. (rarediseases.org)
  • The most recent study published on the diagnosis and treatment of Cockayne Syndrome is a research article from May 2016, published by the American College of Genetics and Genomics, authored by Dr. Brian Wilson and colleagues. (bluepurpleandscarlett.com)
  • In 2018 there were 933 children and youth identified as having CHARGE syndrome. (nationaldb.org)
  • Mullenders, Leon H. F. / Impaired Repair of Ionizing Radiation-Induced DNA Damage in Cockayne Syndrome Cells . (maastrichtuniversity.nl)