Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. [uniprot.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Results: : XPD protein is present in all mouse retina cell types, including photoreceptors and their precursors. Co-immunoprecipitation showed that XPD interacts not only with NR2E3, but also the cone-rod homeobox CRX and bZIP factor NRL. [iovs.arvojournals.org]

Based on the clinical presentation and histological examination, the BCC group was divided into two groups (high-risk and low-risk). [iv.iiarjournals.org]

• Anemia

  He is also the Editor of the book, Molecular Mechanisms of Fanconi Anemia, published by Landes Bioscience. [books.google.com]

  Essential thrombocythemia Familial pancreatic carcinoma Giant cell glioblastoma Gliosarcoma Li-Fraumeni syndrome Nestor-Guillermo progeria syndrome Papilloma of choroid plexus Precursor B-cell acute lymphoblastic leukemia Cockayne syndrome type 1 Fanconi anemia [csbg.cnb.csic.es]

  Q92889 pleiotropic VAR_008204 p.Gly513Arg Disease - - Xeroderma pigmentosum complementation group F (XP-F) [MIM: 278760 ] Q92889 pleiotropic VAR_014771 p.Ile706Thr Non-Disease rs1800069 - - Q92889 pleiotropic VAR_070089 p.Arg689Ser Disease - - Fanconi anemia [sbg.bio.ic.ac.uk]

  ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1 Specificity 12 % Genes 100 % Anemia Panel. By Blueprint Genetics in Finland. [mendelian.co]

  […] repair-deficiency disorder Thymine dimer Xeroderma pigmentosum MSI/DNA mismatch repair Hereditary nonpolyposis colorectal cancer · Muir–Torre syndrome · Mismatch repair cancer syndrome Other Ataxia telangiectasia · Bloom syndrome · Cockayne syndrome · Fanconi anemia [dictionnaire.sensagent.leparisien.fr]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  In addition patients exhibit cutaneous sensitive to sunlight, thin dry hair, short stature,, disproportionately long limbs with large hands and feet, sensorineural hearing loss, and have the appearance of premature aging. [themedicalbiochemistrypage.org]

  Patients with CS have a combination of sun sensitivity, short stature, severe neurologic abnormalities due to dysmyelination, cataracts, dental caries, a wizened appearance, and a characteristic bird-like facies. [ommbid.mhmedical.com]

• Pathologist

  The tissue specimens from the Chung Shan Medical University Hospital pathology laboratory files from 2004 to 2012 were examined and diagnoses were confirmed by two pathologists. [iv.iiarjournals.org]

• Hearing Impairment

  Sensorineural hearing loss disorder MedGen UID: 9164 •Concept ID: C0018784 • Disease or Syndrome A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [ncbi.nlm.nih.gov]

  Both computed tomography (Fig. 2A) and brain magnetic resonance imaging (Fig. 2B) demonstrated brain atrophy, and brainstem auditory-evoked potentials (BAEP) studies showed further deterioration of her hearing impairment. [nature.com]

• Freckles

  The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. [uniprot.org]

  Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement [ncbi.nlm.nih.gov]

  (A and E) Face photographs of patients 1 and 2 demonstrating prominent skin freckling (patient 1) or scarring (open arrows) at the sites of prior basal cell carcinoma resections (patient 2). [ng.neurology.org]

• Skin Lesion

  The sister had head circunference of 53 cm (-1DP), her weight was 47kg (p3-5) and height was 1,56 cm (p10), she had dry hair, sparse eyebrows, and a skin lesion in the right anterior cervical region with a descamative aspect. [ashg.org]

  In the BCC group, 78 (91%) of the lesions were located at the sun exposure site and 26 (30%) were at high-risk, as shown in Table I. Increased XPC protein levels in basal cell carcinoma compared to adjacent normal skin. [iv.iiarjournals.org]

  XPD mutations cause the autosomal recessive disorders trichothiodystrophy (TTD), cockayne syndrome (CS), and xeroderma pigmentosum (XP) with skin lesions, neurological defects and developmental delay. [iovs.arvojournals.org]

  We report 2 middle-aged Caucasian women with adult-onset chorea, ataxia, dystonia, neuropathy, and later progressive cognitive impairment, but with life-long acute skin sun-burning on minimal sun exposure, freckle-like skin lesions on sun-exposed skin [ng.neurology.org]

  Swelling, ulcerative budding and crusty lesion in the right temporal region developed on the poikilodermal skin of the scalp and face in an 8-year-old child (case 2, Abidjan, Côte d’Ivoire). [karger.com]

• Suggestibility

  These data suggest that concurrent up-regulation of genes involved in nucleotide excision repair may be important in clinical resistance to platinum-based chemotherapy in this disease. [ncbi.nlm.nih.gov]

  A mutation of the Lys392 residue to arginine in the conserved Walker type A nucleotide-binding motif is lethal, suggesting an essential role of the putative RAD25 (SSL2) ATPase/DNA helicase activity in viability. [pnas.org]

  Our findings suggested that the astaxanthin induced p38 MAPK mediated XPC down-regulation enhanced the erlotinib-induced cytotoxicity in A549 and H1975 cells. [pubs.rsc.org]

  It was suggested that ΔG reduced repair because its DNA binding ability was still retained but was not loading ERCC1 protein on to the damaged DNA site (11). [cancerres.aacrjournals.org]

• Withdrawn

  Arch Dermatol 113: 1561–1563 Google Scholar Robbins JH (1991) Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D. [link.springer.com]

  Patients who lose their hearing may feel isolated and become withdrawn and/or depressed. These factors can accelerate decline. [ojrd.biomedcentral.com]

• Aggressive Behavior

  However, they did experience behavioral changes, including aggressive behavior (H. Slor, personal communication and reference [29]). XP24BR, CO14TA, and CO107TA all shared a common mutation that leads to the protein change Arg799 > Trp. [ojrd.biomedcentral.com]

• Hyperreflexia

  Freckling Progeroid facial appearance Abnormality of the musculoskeletal system Microcephaly Abnormality of the nervous system Abnormal CNS myelination Basal ganglia calcification Cerebellar ataxia Cerebellar atrophy Decreased nerve conduction velocity Hyperreflexia [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

After either treatment, the plates were incubated for 5 additional days. [cancerres.aacrjournals.org]

Also compounds inducing double strand DNA damage, 8-methoxypsoralen +UVA, mitomycin C, and nitrogen mustard have been under investigation including their importance in psoriasis treatment and Fanconi anemia. [books.google.com]

Association between XPF expression and prognosis of gastric cancer. [spandidos-publications.com]

Existing keratoses can be treated using cryotherapy or fluorouracil.[4] Prognosis Fewer than 40% of individuals with the disease survive beyond age 20 years. Individuals with milder disease may survive beyond middle age. [dictionnaire.sensagent.leparisien.fr]

The low socioeconomic level was responsible for the delay of treatment in clinical case 3, which had a considerable influence on the prognosis. [karger.com]

Despite a favorable prognosis, 10-20% of BOTs exhibit progressively worsening clinic. Primary involvement of pelvic organs with echinococcus is very rare. Lymphoepithelioma-like gastric carcinoma is a rare neoplasm of the stomach. [worldwidescience.org]

Furthermore, early diagnosis may improve prognosis of the disease, with extensive protection against the sun. Competing Interests The authors report that they have no competing interests relevant to the subject of this paper. [hindawi.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

[…] velocity Hyperreflexia Intellectual disability Ventriculomegaly Ear malformation Sensorineural hearing loss disorder Growth abnormality Short stature Neoplasm Malignant melanoma of skin Neoplasm Skin basal cell carcinoma Squamous cell carcinoma of the skin Etiology [ncbi.nlm.nih.gov]

More than 340 genetic diseases have been identified in the Tunisian population and the genetic etiologies are known for only 50% of these diseases ( Romdhane et al., 2011 ). Kasserine is a region in the Central West of Tunisia. [frontiersin.org]

- XPC Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Genatlas disease for XPC Gene xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internal tumors (glioma) Relevant External Links for XPC Genetic Association Database (GAD) XPC Human Genome Epidemiology (HuGE) Navigator [genecards.org]

Analysis of 434 cases from the surveillance, epidemiology, and end results program, 1973–2007,” Annals of Diagnostic Pathology, vol. 15, no. 2, pp. 93–97, 2011. View at: Publisher Site | Google Scholar D. Bootsma, K. H. Kraemer, J. E. [hindawi.com]

Science.gov (United States) Gosvig, Camilla F; Kjaer, Susanne K; Blaakær, Jan; Høgdall, Estrid; Høgdall, Claus; Jensen, Allan 2015-01-01 Epidemiological studies that have investigated the association between coffee, tea and caffeine consumption and [worldwidescience.org]

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients. J. Dermatol. 44, 71–75. doi: 10.1111/1346-8138.13576 PubMed Abstract | CrossRef Full Text | Google Scholar [frontiersin.org]

In contrast, the mechanism by which the XPE gene product prevents sunlight-induced cancers is not known. [thebiogrid.org]

Standard Therapies Prevention Rigorous sun (UV) protection is necessary beginning as soon as the diagnosis is suspected to prevent continued DNA damage and disease progression. [rarediseases.org]

Footnotes Support Grants from NIH R01 EY012543-10 (to SC) and P30 EY02687 (to WU-DOVS), Research to Prevent Blindness (to SC and WU-DOVS) and Knights Templar Eye Foundation (to XZ) Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1679. [iovs.arvojournals.org]

Better detection and better prevention are needed. Statement of Ethics The authors have no ethical conflict to disclose. Disclosure Statement The authors declare no conflict of interest. [karger.com]

Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps. [medlineplus.gov]