Cockayne Syndrome: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.DNA Repair Enzymes: Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.Xeroderma Pigmentosum: 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.DNA Helicases: 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.DNA Repair: 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.Photosensitivity Disorders: 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.Ultraviolet Rays: 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.Syndrome: A characteristic symptom complex.Transcription Factor TFIIH: 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.Enophthalmos: Recession of the eyeball into the orbit.Dwarfism: 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.Xeroderma Pigmentosum Group D Protein: 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.DNA Damage: 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.Aging, Premature: Changes in the organism associated with senescence, occurring at an accelerated rate.Endonucleases: 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.-.Nuclear Receptor Subfamily 2, Group C, Member 2: 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.RNA Polymerase II: 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.Skin Diseases, Genetic: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.Mutant Chimeric Proteins: 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.Xeroderma Pigmentosum Group A Protein: 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.Trichothiodystrophy Syndromes: 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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Transcription Factors, TFII: 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.GuanineFibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Genetic Complementation Test: 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.DNA-Binding Proteins: 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.Mutation: 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.Cell Line, Transformed: 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.Fatal Outcome: 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.Pyrimidine Dimers: 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.Radiation Tolerance: 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.DNA: 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).Adenosine Triphosphatases: 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.Nuclear Proteins: 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.Down Syndrome: 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)Cell Line: Established cell cultures that have the potential to propagate indefinitely.Metabolic Syndrome X: 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)Kearns-Sayre Syndrome: 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)Wolfram Syndrome: 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.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Lafora Disease: 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)Encyclopedias as Topic: 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)Dictionaries, MedicalEye Manifestations: Ocular disorders attendant upon non-ocular disease or injury.Autophagy: 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.Mitochondria: 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)Information Centers: Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.Internet: 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.Rare Diseases: 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.National Health Planning Information Center (U.S.): 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.Usher Syndromes: 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.Poison Control Centers: 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 ...
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
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 ...
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 ...
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 - ...
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?
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 ...
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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 ...
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%.
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 Otoonychoperoneal Syndrome? Join friendly people sharing true stories in the I Have Otoonychoperoneal Syndrome group. Find support forums, advice and chat with groups who share this life experience. A Otoonychoperoneal Syndrome anonymous ...
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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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.
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 →. ...
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 ...
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. To determine if the clinical phenotypes of XP and TTD can be attributed to the sites of the mutations, we have identified the mutations in a large group of TTD and XP-D patients. Most sites of mutations differed between XP and TTD, but there are three sites at which the same mutation is found in XP and TTD patients. Since the corresponding patients were all compound heterozygotes with different mutations in the two alleles, the alleles were tested separately in a yeast complementation assay. The mutations which are found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele. If we eliminate the null mutations, the remaining mutagenic pattern is ...
Charity Choice list of charities includes Swindon Downs Syndrome Group and other Care For Carers charities. Swindon Downs Syndrome Group in South West is featured in the Family charity database on Charity Choice.
The role of nucleotide excision repair (NER) in the maintenance of DNA integrity under oxidative assault has yet to be elucidated. A defective NER can result in Xeroderma Pigmentosa (XP) or Cockayne Syndrome (CS), both autosomal recessive diseases, presenting with increased cancer risk and segmental progeria. Although the NER is characterized to be involved in repairing UV-induced damage, it is difficult to attribute all the symptoms of XP and CS to UV-damage. Oxidative stress is thus likely to be an important factor. Other DNA repair proteins including a component of the NER pathway, XPF, have been reported to be involved in telomere dynamics. As the importance of the NER pathway in removing oxidative stress-induced DNA lesions is still unclear, we sought to understand the role of NER in oxidative stress-induced damage protection and telomere-mediated chromosome integrity. In our study, we utilized primary cells derived from patients suffering from XP (XP-A and XP-D) and CS Type II (CS-B), as ...
Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
NIA AGING CELL REPOSITORY WWW CATALOG To ensure that investigators have access to the most up-to-date information and complete listings of cell cultures, a World Wide Web version of the NIA Aging Cell Repository catalog is now available (http://locus.umdnj.edu/nia). The Repository has human cell cultures from individuals with aging-related conditions. These include disorders of accelerated aging (e.g., progeria, Werner syndrome, Cockayne syndrome, Rothmund-Thomson syndrome, and Down syndrome) and cell cultures from familial Alzheimer disease extended pedigrees. The collection also includes specially characterized normal human diploid fibroblast cultures (IMR90 and IMR91) and over 500 skin fibroblast cultures from subjects participating in the NIA-sponsored Gerontology Research Center Baltimore Longitudinal Study of Aging. In addition, the Aging Cell Repository has human and animal differentiated cell cultures (epithelial, endothelial, and smooth muscle), human mammary epithelial and keratinocyte ...
BACKGROUND: Proton magnetic resonance spectroscopy ((1) H-MRS) is a sensitive, noninvasive imaging technique capable of measuring brain metabolites in vivo. Chronic exposure to endogenous hypercortisolism in Cushings syndrome (CS) is associated with negative effects on memory and hippocampal volumes, even after biochemical cure. OBJECTIVE: To investigate metabolites in the hippocampi of CS patients and controls, using (1) H-MRS. PATIENTS AND METHODS: Eighteen right-handed cured CS patients (age 44·8 ± 12·5 years, 12·6 ± 3·8 years of education) and 18 right-handed healthy controls, matched for age (40·0 ± 11·9) and years of education (14·4 ± 3·8), underwent 3-Tesla magnetic resonance imaging (3T MRI) and (1) H-MRS including the head of each hippocampus ...
The 2017 CSB Commencement DVD or custom CSB (HD) Flash Drive with the Commencement Ceremony is available for purchase through the Bookstore. Please pre-order at Grad Finale or online at http://www.csbsju.edu/bookstore/graduation-information or call 1-800-420-4509. ...
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Infobox_gene}} Fanconi anemia group B protein is a [[protein]] that in humans is encoded by the FANCB [[gene]].,ref name="pmid9382107">{{cite journal , vauthors = Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA, Ebell W, van Weel M, Pronk JC, Buchwald M, Arwert F , title = Evidence for at least eight Fanconi anemia genes , journal = Am J Hum Genet , volume = 61 , issue = 4 , pages = 940-4 ,date=Nov 1997 , pmid = 9382107 , pmc = 1715980 , doi = 10.1086/514881 }},/ref>,ref name="pmid15502827">{{cite journal , vauthors = Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H , title = X-linked inheritance of Fanconi anemia complementation group B , journal = Nat Genet , volume = 36 , issue = 11 , pages = 1219-24 ,date=Oct 2004 , pmid = 15502827 , pmc = , doi = 10.1038/ng1458 }},/ref>,ref name="entrez">{{cite web , title = Entrez Gene: FANCB Fanconi anemia, complementation group B, url = ...
The mutational landscape of this melanoma cell line is also shaped by DNA repair processes [10]. Nucleotide excision repair is the repair pathway responsible for removing UV-induced pyrimidine dimers. A specialized mechanism of transcription-coupled nucleotide excision repair removes pyrimidine dimers preferentially from active genes and specifically from the transcribed strand of active genes. This repair activity was reflected in the distribution of C-to-T and CC-to-TT mutations in the melanoma genome, in which these types of mutations were more prominent on the non-transcribed DNA strand of active genes. Genes expressed at a high level showed a lower frequency of somatic mutations than genes expressed at a low level, on both the transcribed and non-transcribed strands. The authors [10] also reported lower mutation prevalence in exons than in introns, but this could be due to negative selection of coding sequence mutations.. The second study [11] focused on a SCLC genome. The authors [11] used ...
The nucleotide excision repair (NER) pathway operates through two sub-pathways: global genome repair (ggNER) and transcription-coupled repair (TCR) or gene- and strand-specific DNA repair [1, 2, 4]. The ggNER is a repair mechanism which has the ability to repair DNA damage to the overall genome with equivalent efficiency. In contrast, TCR is a kind of heterogeneous DNA repair, where repair to the damaged DNA in the status of transcription activity is superior to the silenced genes and the repair of the transcribed strand is superior to the untranscribed strand. Some DNA repair proteins and transcription factors have been identified to be involved in TCR such as CSA, CSB, XPG, XAB2, RNA polymerase II, and TFIIH [1, 7, 8, 24]. Blockage of RNA polymerase □ at the DNA damage site is believed to create a conducive environment for DNA repair [7, 9]. In this report, we provide evidence to demonstrate that DNA-PKcs, a known critical component in the NHEJ pathway of DNA double-strand breaks, is also ...
CD11c is expressed on various cells including dendritic cells (DCs), as well as CS cells that are induced by corneal nerve ablation.13 One of the remarkable features of DCs is their potency in stimulating T-cell responses. As few as 10 allogeneic dendritic Langerhans cells can induce allospecific cytotoxic T-lymphocyte (CTL) responses and elicit accelerated rejection of allogeneic skin grafts.17 With this in mind, we sought to determine the minimum number of CD11c+ CS cells that would block the action of CD8+ ACAID Tregs. Two approaches were used. This first strategy sought to determine the minimum number of CD11c+ CS cells that, when adoptively transferred to naïve recipients, would prevent the induction of ACAID. The right eyes of naïve BALB/c mice were trephined, and CD11c+ cells were isolated from the spleens 14 days later using a Miltenyl Biotec pan dendritic cell isolation kit.13 Either 1 × 102 or 1 × 103 CD11c+ cells were injected IV into naïve BALB/c mice. One day later, mice were ...
Collery, Mark M. and Kuehne, Sarah A. and McBride, Shonna M. and Kelly, Michelle L. and Monot, Marc and Cockayne, Alan and Dupuy, Bruno and Minton, Nigel P. (2016) Whats a SNP between friends: the influence of single nucleotide polymorphisms on virulence and phenotypes of Clostridium difficile strain 630 and derivatives. Virulence . ISSN 2150-5608 ...
Modern city-dwellers suffer their share of unpleasant experiences - traffic jams, noisy neighbours, pollution, food scares - but urban nuisances of the past existed on a different scale entirely, this book explains in vivid detail. Focusing on offences to the eyes, ears, noses, taste buds, and skin of inhabitants of Englands pre-Industrial Revolution cities, Hubbub transports us to a world in which residents were scarred by small pox, refuse rotted in the streets, pigs and dogs roamed free, and food hygiene consisted of little more than spit and polish. Through the stories of a large cast of characters from varied walks of life, the book compares what daily life was like in different cities across England from 1600 to 1770. Using a vast array of sources, from novels to records of urban administration to diaries, Emily Cockayne populates her book with anecdotes from the quirky lives of the famous and the obscure - all of whom confronted urban nuisances and physical ailments. Each chapter ...
ABSTRACT : Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, which is characterized by hypersensitivity of the skin to ultraviolet (UV) radiation and progressive neurological complicat...
Xeroderma pigmentosum is an autosomal recessive genetic disorder in which the ability to repair damage caused by ultraviolet light is deficient. Affected individuals must avoid exposure to sunlight.
... is a heterogeneous group of autosomal recessive disorders, characterized by the defective repair of DNA after its damage by ultr
Here is the best resource for homework help with CSB 186B : Modeling & Simulation of Biological Systems at UCLA. Find CSB186B study guides, notes, and
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Basal Ganglia Calcification - BASAL GANGLIA CALCIFICATION Differential Diagnosis Birth anoxia Idiopathic (most common) bilateral and symmetrical Toxoplasmosis / CMV - usually not limited to basal ganglia Hypoparathyroidism / pseudohypoparathyroidism Fahr syndrome Cockayne syndrome - 1218430580 - Sumer Sethi - Basal ganglion part - Fahrs syndrome
TY - JOUR. T1 - Hypercoagulability and risk of venous thromboembolic events in endogenous Cushings syndrome. T2 - A systematic meta-analysis. AU - Wagner, Jeffrey. AU - Langlois, Fabienne. AU - Ting Lim, Dawn Shao. AU - McCartney, Shirley. AU - Fleseriu, Maria. PY - 2018/1/1. Y1 - 2018/1/1. N2 - Background: Hypercortisolism has been implicated in the development of venous thromboembolic events (VTE). We aimed to characterize VTE risk in endogenous Cushings syndrome (CS) patients, compare that risk to other pathologies, and determine if there are any associated coagulation factor changes. Methods: Medline and Scopus search for "hypercortisolism" and "thromboembolic disease" from January 1980 to April 2017 to include studies that reported VTE rates and/or coagulation profile of CS patients. A systematic review and meta-analysis were performed. Results: Forty-eight studies met inclusion criteria. There were 7,142 CS patients, average age was 42 years and 77.7% female. Odds ratio of spontaneous ...
2 PULSED-FIELD GEL ELECTROPHORESIS (PFGE) (a) Basic principles A solution to the problems of analysis caused by complex chromosomal fingerprint patterns is to use a rare-cutting restriction endonuclease to generate only a limited number of large DNA fragments. As stated in the previous section, such large fragments cannot be separated readily by conventional agarose gel electrophoresis. The only technique available currently that is capable of separating DNA molecules in the 50 Analysis of chromosomal DNA 45 kb-12 Mb range physically is pulsed-field gel electrophoresis (PFGE), first described by Schwartz and Cantor (1984). 345-76. B. I. (1989) Serotyping Bordetella pertussis strains. Vaccine, 7, 491-4. , Polveroni, G. and Abadie, G. (1988) Serotyping of Pasteurella haemolytica - comparison and adjustment of antigenic extracts and techniques. Revue de Medecine Veterinaire, 139, 719-22. , Nicklon, S. R. (1977) DNA sequencing with chainterminating inhibitors. Proceedings of the National Academy ...
Complete information for FANCB gene (Protein Coding), Fanconi Anemia Complementation Group B, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Sensory nerves in the periphery respond to noxious stimuli that produce pain, thermal stimuli sensed as heat or cold, and mechanical stimuli perceived as touch. Two groups (Cockayne et al. and Souslova et al.) studied how sensory perception was altered in mice when the gene for the P2X3 adenosine triphosphate (ATP) receptor was knocked out. A third group (Price et al.) focused on sensory deficits in mice lacking the gene for the sodium channel BNC1, which is not a voltage-gated channel. The BNC1-/- mice exhibited decreased responsiveness to mechanical stimuli sensed by the class of rapidly adapting mechanoreceptors. The BNC1 channel is normally expressed by nerves found at the base of hair follicles consistent with its having an essential role in touch perception. The P2X3 knockout mice demonstrated decreased pain-related behavior. Furthermore, the P2X3-/- mice lost a rapidly desensitizing ATP-induced current in dorsal root ganglia and had altered ATP-induced currents in nodose ganglia ...
Computational modeling is employed to provide a plausible structural explanation for the experimentally-observed differential global genome repair (GGR) propensity of the ALII-N2-dG and ALIIN6- dA DNA adducts of ...
LAMINATED. A visual guide to the human genome. Provides a detailed view of all 23 human chromosome pairs and the location of the genes which cause the most common genetic disorders …
*Review ini pertama kali ditulis 22 September 2009 di http://purisuka.multiply.com Telat banget ya saya nonton film ini. Dulu udah nonton versi dorama-nya, dan jujur versi dorama-nya bikin ngantuk dan membosankan banget. Tapi yang movie-nya, saya suka! Jauh lebih bagus dari doramanya. Kaoru Amane (YUI), 16 tahun, mengidap suatu penyakit langka bernama XP (Xeroderma Pigmentosum), dimana…
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein.
Tamura D, DiGiovanna JJ, Khan SG, Kraemer KH. Living with xeroderma pigmentosum: Comprehensive photoprotection for highly photosensitive patients. Photodermatology, Photoimmunology and Photomedicine 2014;30 (2-3):146-152.. Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh K S, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff N T, Bradford P, Digiovanna J J, and. Kraemer K.H. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013;120 (7):1324-1336.. Lai J-P, Liu T-C, Alimchandani M, Liu Q,, Aung PP, Matsuda K, Lee C-C R, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, DiGiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM and Kraemer KH. The influence of DNA repair on neurologic degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and ...
Mood Disorders - These kind of illnesses are also influential on the human genetic disorder with symptoms unique to the human genetic disorder and to encourage the human genetic disorder in anorexia nervosa. Consciousness management and the human genetic disorder can aggravate symptoms of anxiety disorder. These conditions affect peoples lives on a constant rise, the global scientific community is started to become alarmed. Statistics show that although the what genetic disorder of patients with orthorexia nervosa do the human genetic disorder like planning the human genetic disorder next one will strike. These attacks may be that teaching a child to pass through their childhood without appropriate treatment sentences them to a body weight leaner than needed for health is highly promoted by current fashion trends, sales campaigns for special foods, and in some professionals views, is that we are potentially missing children who have a public disaster on our hands. Treatment of children parents ...
Washington, DC, April 24, 2007 - The U.S. Chemical Safety Board (CSB) has posted on www.CSB.gov a Korean translation of the animation depicting the BP Texas City refinery explosion. This will mark the fourth non-English translation of the BP animation available on the website. It has also been also translated into German, French, and Spanish. These, as well as all CSB safety videos may be viewed at www.csb.gov / Video Room. The new Korean-language video was translated and narrated by a visiting researcher-in-residence at the CSB, Kyeong-Sung Lee. Mr. Lee is the manager of the technical expert department of the Korean Occupational Safety and Heath Agency (KOSHA) in South Korea. Mr. Lee is working with the CSB to research the agencys incident investigation system and other topics. He intends to develop new KOSHA incident investigation systems based on those of the CSB.. Mr. Lee said, The Korean-language version of the CSB video will be of great importance to chemical workers in Korea, as we have ...
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. Evidence-based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene-informed genetic counseling. We studied 34 different germline PTEN intronic variants from 61 CS patients, characterized their PTEN mRNA processing, and analyzed PTEN expression and downstream readouts of P-AKT and P-ERK1/2. While we found that many mutations near splice junctions result in exon skipping, we also identified the presence of cryptic splicing that resulted in premature termination or a shift in isoform usage ...
BackgroundXeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by a defect in DNA repair and subsequent increased frequency of cutaneous
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Descriptive info: .. Xeroderma Pigmentosum Society.. Menu.. Skip to content.. Home.. News.. Board of Directors.. Parents Caregivers.. How to Help.. The XP 1500 Club.. Global XP Appeal.. Research Discovery.. Students/Research.. Scientific Advisory Board.. James E.. Cleaver, Ph.. D.. Professor Brian Diffey.. W.. Clark Lambert, M.. , Ph.. Joseph Malak, MD.. Alain Sarasin, Ph.. Camp Sundown.. Camp Sundown Clowns.. Stars Above.. Contact Us.. Welcome.. Learn about xeroderma pigmentosum (XP) , a rare genetic disease, and about the Xeroderma Pigmentosum Society (XPS), dedicated to helping XP families, patients and those afflicted with similar life-threatening sun-sensitivity disorders.. The XP Society is a 501(c)(3) not-for-profit charitable organization founded in 1995 by Caren and Dan Mahar, whose ... XP.. The XP Society has always been international in its scope and support, since its beginning.. The XP Society offers information, support, advocacy, and protection to the XP family, patient and ...
Mayor Kenneth Cockayne announced today that the Bristol Water Department, as a Department of the City of Bristol, is notifying customers that the citys reservoirs have declined to 70 percent capacity from the lack of rain and that the water department has issued voluntary water restrictions effective immediately.. "A lack of rain and unseasonably warm weather over the past few weeks has lowered our reservoirs along with the aquifers that our well fields draw water from to levels that require the Bristol Water Department to request conservation from our customers," said Robert J. Longo, superintendent of the Bristol Water Department in a press release from the city. Longo added, "Earlier this week, the Bristol Water Department reached out to our larger users including the Parks Department, Public Works, Fire Department, Board of Education, Pequabuck and Chippanee golf courses, ESPN, St Paul Catholic High School, and Lake Compounce asking for their cooperation in reducing usage at their ...
Freddie Opoku-Addaie, Independent Dance Artist and Guest Programmer at Dance Umbrella International Festival (inaugural FreeSpace artist).. Building Studio Wayne McGregor has been made possible by the generous support of a number of individuals and organisations including: Angela Bernstein and The Quercus Trust; Supported using public funding by the National Lottery through Arts Council England; our Vitruvian Group of key individual supporters; Trusts and Foundations including Garfield Weston Foundation, The Wolfson Foundation, The Sackler Trust, The Marina Kleinwort Trust, The Josef and Anni Albers Foundation, The Wayne McGregor Foundation, Arts Impact Fund, Cockayne - Grants for the Arts, The London Community Foundation, CHK Charities, Cocheme Charitable Trust, Music Sales Charitable Trust and The Mackintosh Foundation; and support from organisations including law firm Cripps, Technogym The Wellness Company, Harlequin Floors, Castle Davis, Cushman and Wakefield, We Not I, Vitsoe, Warner ...
The cutoff values for age with AUCs and 95% CI for individuals with periodontitis were 46 years (0.72 [0.71-0.73]), 43 years (0.73 [0.72, 0.74]), 45 years (0.71 [0.70,0.72]), 43 years (0.73 [0.72, 0.74]), and 45 years (0.74 [0.72, 0.75]) for no obesity, no abdominal obesity, no diabetes mellitus, no hypertension, and no metabolic syndrome groups, respectively.This study proposed the guideline for the appropriate age threshold at which to recommend the evaluation of moderate and severe periodontitis for the general population and additionally added the guideline for the individuals without systemic disease including diabetes mellitus, hypertension, metabolic syndrome, and obesity ...
Description of disease Xeroderma pigmentosa. Treatment Xeroderma pigmentosa. Symptoms and causes Xeroderma pigmentosa Prophylaxis Xeroderma pigmentosa
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There will be occasional tests during the year to install updates and insure the system is working. Should you have any questions regarding the system, please contact Darren Swanson, Director of Security, CSB or Shawn Vierzba, Director of Life Safety Services, SJU. ...
ATP-dependent 5-3 DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of
Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis, where the patients have genetic inability to repair DNA damage, induced by ultraviolet light (UV Light). This clinically demonstrates as photosensitivity and has an incidence of skin cancer, higher than 1000 times, higher than the average. ...
Baban, Soza T. and Kuehne, Sarah A. and Barketi-Klai, Amira and Cartman, Stephen T. and Kelly, Michelle L. and Hardie, Kim R. and Kansau, Imad and Collignon, Anne and Minton, Nigel P. (2013) The role of flagella in Clostridium difficile pathogenesis: comparison between a non-epidemic and an epidemic strain. PLoS ONE, 8 (9). e73026. ISSN 1932-6203 Baban, Soza T. and Kuehne, Sarah A. and Barketi-Klai, Amira and Cartman, Stephen T. and Kelly, Michelle L. and Hardie, Kim R. and Kansau, Imad and Collignon, Anne and Minton, Nigel P. (2013) The role of flagella in Clostridium difficile pathogenesis: comparison between a non-epidemic and an epidemic strain. PLoS ONE, 8 (9). e73026. ISSN 1932-6203 Kuehne, Sarah A. and Collery, Mark M. and Kelly, Michelle L. and Cartman, Stephen T. and Cockayne, Alan and Minton, Nigel P. (2013) Importance of Toxin A, Toxin B, and CDT in virulence of an epidemic Clostridium difficile strain. Journal of Infectious Diseases, 209 (1). pp. 83-86. ISSN 1537-6613 Ng, Yen K. and ...
Xeroderma Pigmentosum is a medical affliction that occurs in an extremely small percentage of the populace. The genetic makeup of people afflicted with XP causes a host of problems repairing the damage from ultraviolet rays that the sun emanates. Children with Xeroderma Pigmentosum should only be allowed to play at night. For this reason, people afflicted with Xeroderma Pigmentosum are ridiculed as the "people of the night" or vampires. Although this is obviously untrue, people with xp have a very hard life. Almost all cases are extreme cases of XP and they result in people unable to handle sunlight at all. It is a genetic disorder that can result in skin cancer at a young age for those afflicted.. Xeroderma Pigmentosum causes severe sunburn and eye irritation almost immediately upon exposure to sunlight. People afflicted can get blisters and freckling of the skin. The problem many people with XP face is the super dry skin that also comes with the affliction. People with normal skin have the ...
my friends son with trichothiodystrophy has a lot of problem, her mother doesnt know what she should behavior with him, give me some recommendation, please. Reply Follow This Thread Stop Following This Thread Flag this Discussion ...
Mutations in the ERCC3 gene also appear to be a rare cause of xeroderma pigmentosum. A single ERCC3 gene mutation has been identified in people with this condition. This mutation changes one protein building block (amino acid) in the XPB protein; specifically, it replaces the amino acid phenylalanine with the amino acid serine at protein position 99 (written as Phe99Ser or F99S). This mutation greatly reduces the ability of the TFIIH complex to repair damaged DNA. As a result, abnormalities accumulate in DNA, causing cells to malfunction and eventually to become cancerous or die. These problems with DNA repair cause people with xeroderma pigmentosum to be extremely sensitive to UV rays from sunlight. When UV rays damage genes that control cell growth and division, cells can grow too fast and in an uncontrolled way. As a result, people with xeroderma pigmentosum have a greatly increased risk of developing cancer. These cancers occur most frequently in areas of the body that are exposed to the ...
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XPA antibody (xeroderma pigmentosum, complementation group A) for ICC/IF, IHC-P, IP, WB. Anti-XPA pAb (GTX103168) is tested in Human samples. 100% Ab-Assurance.
... 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 ...
... 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] ...
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]. ...
... 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 ...
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 ...
Cockayne syndrome, Parkinson's disease and xeroderma pigmentosum.[17][16]. Axonal transportEdit. Axonal swelling and spheroids ...
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 ...
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 ...
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.. ...
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. ...
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.. ...
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) ...
... cri-du-chat syndrome, Down syndrome, Patau's syndrome, trisomy 18 (Edward's syndrome), and Turner's syndrome, and in the case ... Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome. ... The presence of cataracts in childhood or early life can occasionally be due to a particular syndrome. Examples of chromosome ... Vitreous touch syndrome is a possible complication of intracapsular cataract extraction.[57] ...
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 ...
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 ...
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 ...
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 ...
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 ...
... but not Cockayne syndrome proteins or BRCA1". Molecular Cell. 28 (3): 386-97. doi:10.1016/j.molcel.2007.10.008. PMID 17996703. ...
CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin-Lowry syndrome Coffin-Siris syndrome Cogan syndrome Cohen ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome.) The name ... Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) and Seemanova ... "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 ...
However, there is research on other, more common syndromes such as Werner syndrome, Cockayne syndrome and Refsum syndrome that ... Werner syndrome, Cockayne syndrome and Refsum syndrome. The onset of Flynn-Aird syndrome typically occurs between ten and ... Refsum syndrome, and Cockayne syndrome, which could be indicative of similar causative origins. However, these syndromes are ... Unlike related syndromes and despite the intensity of symptoms in the disease progression, Flynn-Aird syndrome does not appear ...
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 ...
Insights for Transcription-Coupled Repair and Cockayne Syndrome". Molecular Cell. 20 (2): 187-198. doi:10.1016/j.molcel.2005.09 ...
... bloom syndrome MeSH C18.452.284.250 --- cockayne syndrome MeSH C18.452.284.255 --- colorectal neoplasms, hereditary ... melas syndrome MeSH C18.452.100.100.540 --- menkes kinky hair syndrome MeSH C18.452.100.100.545 --- merrf syndrome MeSH C18.452 ... melas syndrome MeSH C18.452.648.151.450 --- menkes kinky hair syndrome MeSH C18.452.648.151.505 --- merrf syndrome MeSH C18.452 ... nijmegen breakage syndrome MeSH C18.452.284.760 --- rothmund-thomson syndrome MeSH C18.452.284.800 --- severe combined ...
... exonuclease that forms a complex with the Cockayne syndrome B (CSB) protein. In this complex, CSB modulates the exonuclease ... carry out its repair function may contribute to the degenerative pathologies and premature aging features of Cockayne syndrome ...
Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple ... 1997). "A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second ... Cockayne syndrome))". Drury, S; Boustred, C; Tekman, M; Stanescu, H; Kleta, R; Lench, N; Chitty, L. S.; Scott, R. H. (2014). "A ... Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9-22. doi:10.1002/(SICI)1098-1004(1999)14:1. 3.0.CO;2-6. PMID ...
... of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome ... disorder Genome-wide association study of Tourettes syndrome Partitioning the heritability of Tourette syndrome and obsessive ... an open-label phase 1 safety trial Feasibility of repairing glomerular basement membrane defects in Alport Syndrome Stem cell ... sustained delivery of chemotherapy Tumour predisposition and cancer syndromes as models to study gene environment interactions ...
135 Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy. *. 140 Skin Gene and Cell Therapy ... WHIM Syndrome. This is the association of warts, hypogammaglobulinaemia, recurrent bacterial infections and myelokathexis. ... Severe chronic neutropenia appears with hyperplasia of the mature myeloid compartment in the bone marrow [15]. WHIM syndrome is ... acquired immune deficiency syndrome, malignancies or organ allograft recipients as a result of immunosuppressive therapy - are ...
Defects in TC-NER in humans are associated with Cockayne syndrome (CS), a disease not linked to tumor development. Mice with TC ... As such these models (Xpa, Xpc and Xpe) recapitulate the human xeroderma pigmentosum (XP) syndrome. ...
Shwachman-Diamond syndrome 1; Aplastic anemia. *Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, ... Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita. *Idiopathic fibrosing alveolitis, chronic form; ... Fanconi anemia, complementation group D1; Hereditary breast and ovarian cancer syndrome. *Fanconi anemia, complementation group ... Primary familial polycythemia due to EPO receptor mutation; Polycythemia vera; Budd-Chiari syndrome; Myelofibrosis; Acute ...
... and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [ ... Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation ...
Neurometabolic syndromes rarely present with calcifications, notable exceptions being Cockayne syndrome, in where there are ... in a case of Cockayne syndrome. B: Unenhanced axial cranial CT scan, with soft-tissue window settings, showing small ... Neurocutaneous syndromes. There are a number of diseases that share signs of neurological and cutaneous involvement, some of ... and Moebius syndrome, the last being a congenital malformation in which punctiform calcifications can be seen in the posterior ...
Cockayne syndrome protein B interacts with and is phosphorylated by c-Abl tyrosine kinase.. ...
Cockayne syndrome (genetic disorder)-Use with caution. May increase the risk of liver problems, which may be life-threatening. ... This is more likely if you have Cockayne syndrome (rare form of dwarfism). Check with your doctor right away if you have pain ...
Charles is 13 and has a very rare disease called Cockayne Syndrome. He is small in stature but BIG in heart and soul. He has ... Charles is 13 and has a very rare disease called Cockayne Syndrome. He is small in stature but BIG in heart... ... Maggie Grace is an 8 year old little girl with Down Syndrome about to enter the 2nd grade. She is very active and bright and ... Zach has Aspergers syndrome and developmental challenges. He has dealt with many surgical procedures throughout his life, but ...
CHARGE Syndrome. *Cockayne Syndrome. *Costello Syndrome. *Cri-du-Chat Syndrome. *De Lange Syndrome ... Weill-Marchesani Syndrome, Autosomal Dominant*Weill-Marchesani Syndrome, Autosomal Dominant. *Weill Marchesani Syndrome, ... Weill-Marchesani Syndrome, Autosomal Recessive*Weill-Marchesani Syndrome, Autosomal Recessive. *Weill Marchesani Syndrome, ... "Weill-Marchesani Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ...
Cockayne syndrome, Li-Fraumeni syndrome and ataxia telangiectasia. Our laboratory has developed a number of techniques to study ...
Congenital malformation syndromes predominantly associated with short stature Syndrome: · Aarskog · Cockayne · De Lange · ... Noonan syndrome is also called as Webbed neck syndrome, Pseudo-Ullrich Turner syndrome, Female Pseudo-Turner syndrome or Turner ... Noonans Syndrome. Noonan Syndrome. A familial condition similar to both Turner Syndrome. It is different however, in that here ... This syndrome originally named as Ullrich-Turner syndrome More Details was later called as Noonan syndrome. It was first ...
... funded National Specialist Service for patients who have the life-limiting genetic disorders known as Cockayne Syndrome and ... National Specialist Service is available on the NHS bringing medical specialists and families together with Cockayne Syndrome ...
The role of the Cockayne syndrome protein BOHR, VILHELM NIH $941,095 Cachexia 2018 NCI 1ZIABC011153-10 Role of mouse microbiome ... The Role of Hypoketonemia in the Cancer Anorexia-Cachexia Syndrome GONCALVES, MARCUS WEILL MEDICAL COLL OF CORNELL UNIV NY $ ...
implications for Cockayne syndrome. Lee, S.K., Yu, S.L., Prakash, L., Prakash, S. Cell (2002) [Pubmed] ... In addition to xeroderma pigmentosum, mutations in the human XPG gene cause early onset Cockayne syndrome (CS) [1]. ... The dysfunction of TFIIH could result in a large panel of genetic disorders, such as xeroderma pigmentosum, Cockaynes syndrome ... and the severe neurodevelopmental conditions Cockayne syndrome (CS) and trichothiodystrophy (TTD) [9]. ...
Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs - the equivalent of a ... Understanding syndrome-associated molecular mechanisms may provide new and more effective ways to prevent exposure-associated ... This Perspective advocates the study of tumour predisposition syndromes as an opportunity to better identify gene-environment ... 3: Xeroderma pigmentosum and Cockayne syndrome as examples of environmental impacts and genetics on DNA damage and repair.. ...
Surprisingly, DSB formation requires the transcription-coupled nucleotide excision repair (TC-NER) factor Cockayne syndrome ... Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of ... DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome JOURNAL OF CLINICAL INVESTIGATION ... Furthermore, we connect increased gammaH2AX levels to the neurological disorder Charcot-Marie-Tooth (CMT) syndrome, and we find ...
Towards Small Molecule Intervention in Cockayne Syndrome - Rare Diseases 2014 GRS-057/14 CHF 480000 Nicolas Thomä 07.2015 - ... Nrf2 and Netherton Syndrome - Rare Diseases 2013 GRS-052/13 CHF 380000 Matthias Schäfer 06.2014 - 03.2019 ... Role of snoRNAs in the Development of Prader Willi Syndrome - Rare Diseases 2011 GRS-046/11 CHF 110000 Shivendra Kishore ... Novel treatment options for Aicardi-Goutières Syndrome (AGS) - Rare Diseases 2014 GRS-059/14 CHF 470000 Andrea Ablasser ...
Wolff-Parkinson-White Syndrome - cardiac ablation. (Surgery). *. Women and sexual problems. (Self-Care) ...
Adult diagnosis of Cockayne syndrome. Cocco, A., Calandrella, D., Carecchio, M., Garavaglia, B. & Albanese, A., Nov 5 2019, In ...
A novel target of mizoribine inhibiting mesangial cell proliferation: S phase kinase-associated protein 2. Cockayne syndrome is ... glutamate and neuropeptides may all contribute to the manifestation of the trimethyltin syndrome. It was also demonstrated that ...
Cockayne / Thomas , 1999 digital version 763 Erosive pustular dermatosis of the scalp following radiation therapy for solar ... Sezary syndrome revealed by routine blood examination. Bouloc, A. / Wechsler, J. / Delfau-Laure, M.-H. / Revuz, J. / Bagot, M. ... Trigeminal trophic syndrome: succesful treatment with carbamazepine. Bhushan, M. / Parry, E. J. / Telfer, N. R. , 1999 print ... Microvenular haemangioma in a patient with Wiskott-Aldrich syndrome. Rikihisa / Yamamoto / Kohda / Hamada / Yasumoto / Kiryu / ...
... and Zollinger-Ellison syndrome. Omepra is available in tablets (10 mg, 20 mg, 40 mg) and capsules. ... or the Cockayne syndrome A and B (CSA and CSB) gene products required for transcription-coupled nucleotide excision repair. ... making it difficult to categorize patients into syndromes. Besides the establishment of a network of in- and out-patient ...
The rem Mutations in the ATP-Binding Groove of the Rad3/XPD Helicase Lead to Xeroderma pigmentosum-Cockayne Syndrome-Like ...
... implications for nucleotide excision repair and Cockayne syndrome.". Habraken Y., Sung P., Prakash S., Prakash L.. Proc. Natl. ...
  • Defects in TC-NER in humans are associated with Cockayne syndrome (CS), a disease not linked to tumor development. (openrepository.com)
  • Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). (lymphedemapeople.com)
  • Tumour predisposition syndromes in which cancers arise at an accelerated rate and in different organs - the equivalent of a sensitized background - provide a unique opportunity to examine how gene-environment interactions influence cancer risk when the initiating genetic defect responsible for malignancy is known. (nature.com)
  • Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in CS-A, and mutations in ERCC6 result in CS-B. Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome. (cdc.gov)
  • The most common cause of Hutchinson-Gilford progeria syndrome ( HGPS ) is mutation in LMNA gene . (wikidoc.org)
  • The most potent risk factor in the development of Hutchinson-Gilford progeria syndrome is mutation in LMNA gene . (wikidoc.org)
  • 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)
  • Several mutations in the ERCC3 gene can cause features of both xeroderma pigmentosum and another condition related to defective DNA repair called Cockayne syndrome. (nih.gov)
  • Abstract 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. (medworm.com)
  • Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by UV sensitivity, developmental abnormalities and premature aging. (hacettepe.edu.tr)
  • Common physical examination findings of Hutchinson-Gilford progeria syndrome ( HGPS ) include skin changes, hair changes, eye problems and musculoskeletal abnormalities. (wikidoc.org)
  • 1 Both Chronic Fatigue Syndrome (CFS) and Fibromyalgia (FM) fall under this category, having both been linked to mitochondrial dysfunction. (prohealth.com)
  • Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk and the name was given by Hastings Gilford. (wikidoc.org)
  • Hutchinson-Gilford progeria syndrome ( HGPS ) is an extremely rare hereditary disease. (wikidoc.org)
  • The incidence of Hutchinson-Gilford progeria syndrome ( HGPS ) is very rare. (wikidoc.org)
  • Approximately 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported in the literature till now worldwide. (wikidoc.org)
  • There is insufficient evidence to recommend routine screening for Hutchinson-Gilford progeria syndrome ( HGPS ). (wikidoc.org)
  • Prognosis is generally poor, in patients with Hutchinson-Gilford progeria syndrome ( HGPS ). (wikidoc.org)
  • The majority of patients with Hutchinson-Gilford progeria syndrome ( HGPS ) are growth issues, cardiac issues, ophthalmologic problems, hearing problems, failure to thrive, poor weight gain and prominent scalp veins . (wikidoc.org)
  • Some patients with Hutchinson-Gilford progeria syndrome ( HGPS ) may have elevated platelet counts, serum phosphorus levels and decreased leptin levels and bone density . (wikidoc.org)
  • There are no ECG findings associated with Hutchinson-Gilford progeria syndrome ( HGPS ). (wikidoc.org)
  • CT scan findings associated with Hutchinson-Gilford progeria syndrome ( HGPS ) include calcification and stenosis of internal carotid artery . (wikidoc.org)
  • But the good news is that there are new investigational therapies for Hutchinson-Gilford progeria syndrome ( HGPS ) patients which include lonafarnib and everolimus . (wikidoc.org)
  • Surgery is not the first-line treatment option for patients with Hutchinson-Gilford progeria syndrome ( HGPS ). (wikidoc.org)
  • There are no established measures for the primary prevention of Hutchinson-Gilford progeria syndrome ( HGPS ). (wikidoc.org)
  • Effective measures for the secondary prevention of Hutchinson-Gilford progeria syndrome ( HGPS ) include nutritional assessment, assessment of the cardiac and neurologic status of the patient, musculoskeletal issues assessment, dental evaluation, ophthalmology evaluation, and audiology evaluation. (wikidoc.org)
  • For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 ( OMIM ). (mendelian.co)
  • Mechanical ventilation is a fundamental treatment of acute respiratory distress syndrome (ARDS). (storysteel.cf)
  • 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)
  • However, these patients may also have a hitherto unreported autosomal recessive malformation syndrome. (bmj.com)
  • Cockayne syndrome is a rare disease and difficult to be recognized. (bvsalud.org)
  • This phenotype is similar to other reported rare entities and especially to a family reported by Warburg et al 2 as the micro syndrome. (bmj.com)
  • One animal study, co-sponsored by the National Institutes of Health (NIH), investigated how NR might affect mice afflicted with Cockayne Syndrome (CS), a condition linked to mitochondrial dysfunction that is associated with accelerated aging of the brain. (prohealth.com)