... was first described in the 1870s by Moritz Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum ... "Xeroderma Pigmentosum". NORD (National Organization for Rare Disorders). 2017. Retrieved 28 June 2018. "Xeroderma pigmentosum ... Xeroderma pigmentosum was first described in 1874 by Hebra and Moritz Kaposi. In 1882, Kaposi coined the term xeroderma ... "Xeroderma pigmentosum". Genetics Home Reference. U.S. Library of Medicine. 26 June 2018. Retrieved 28 June 2018. "Xeroderma ...
... some genetic mutations that cause xeroderma pigmentosum are associated with neurodegeneration. Xeroderma pigmentosum may be ... Xeroderma pigmentosum may be associated with other internal cancers and benign tumors.[citation needed] In addition to cancer, ... Xeroderma pigmentosum is an autosomal recessive disorder characterized by sensitivity to ultra-violet (UV) light, massively ... Niedernhofer LJ, Bohr VA, Sander M, Kraemer KH (2011). "Xeroderma pigmentosum and other diseases of human premature aging and ...
Kraemer KH, DiGiovanna JJ (1993). "Xeroderma Pigmentosum". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, ... Certain genetic conditions, for example, xeroderma pigmentosum, increase a person's susceptibility to sunburn and subsequent ...
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ... "xeroderma pigmentosum". Genetics Home Reference. Retrieved 2017-05-15. "ataxia-telangiectasia". Genetics Home Reference. ...
A deficiency of excinuclease occurs in a rare autosomal recessive disease called xeroderma pigmentosum. This disease can cause ... ISBN 978-1-4641-2610-9. "Xeroderma pigmentosum". Genetics Home Reference. U.S. Library of Medicine. May 2010. Retrieved 11 ...
Tian M, Jones DA, Smith M, Shinkura R, Alt FW (2004). "Deficiency in the nuclease activity of xeroderma pigmentosum G in mice ... Lehmann AR, McGibbon D, Stefanini M (2011). "Xeroderma pigmentosum". Orphanet J Rare Dis. 6: 70. doi:10.1186/1750-1172-6-70. ... "Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH ... Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and ...
Risk is also elevated in certain genetic skin disorders, such as xeroderma pigmentosum and certain forms of epidermolysis ... Lehmann AR, McGibbon D, Stefanini M (November 2011). "Xeroderma pigmentosum". Orphanet Journal of Rare Diseases. 6 (1): 70. doi ...
This condition can occur alongside xeroderma pigmentosum, resulting in xeroderma pigmentosum-cockayne syndrome (XP-CS). OGG1 ... Xeroderma pigmentosum or XP is a rare genetic disorder that occurs worldwide. On affected people, exposure to UV radiation, ... Xeroderma Pigmentosum Study Group". Lancet. 357 (9260): 926-9. doi:10.1016/s0140-6736(00)04214-8. PMID 11289350. S2CID 54406695 ... However without this repair, conditions such as UV-sensitive syndrome, xeroderma pigmentosum, and Cockayne syndrome may arise. ...
XDH Xeroderma pigmentosum group A; 278700; XPA Xeroderma pigmentosum group B; 610651; ERCC3 Xeroderma pigmentosum group C; ... DDB2 Xeroderma pigmentosum group F; 278760; ERCC4 Xeroderma pigmentosum group G; 278780; ERCC5 Xeroderma pigmentosum, variant ... 278720; XPC Xeroderma pigmentosum group D; 278730; ERCC2 Xeroderma pigmentosum group E, DDB-negative subtype; 278740; ... RP2 Retinitis pigmentosa-25; 602772; EYS Retinitis pigmentosa-26; 608380; CERKL Retinitis pigmentosa-3; 300029; RPGR Retinitis ...
He suffers from Xeroderma pigmentosum. Cecelia Pike/Lia Beaumont: A suicidal woman featured in the present-day as well as in ...
Eczema Ichthyosis Xeroderma pigmentosum Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume ... Xeroderma can be caused by choline inhibitors. Detergents such as washing powder and dishwashing liquid can cause xeroderma. ... Bathing or hand washing too frequently, especially if one is using harsh soaps, can contribute to xeroderma. Xeroderma can be ... Xeroderma occurs most commonly on the scalp, lower legs, arms, hands, knuckles, the sides of the abdomen, and thighs. Symptoms ...
"Entrez Gene: XPA xeroderma pigmentosum, complementation group A". Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ (2016 ... Molecular analysis of xeroderma pigmentosum group A gene". The Japanese Journal of Human Genetics. 38 (1): 1-14. doi:10.1007/ ... Satokata I, Tanaka K, Okada Y (Mar 1992). "Molecular basis of group A xeroderma pigmentosum: a missense mutation and two ... Xpa mutant individuals often show the severe clinical symptoms of xeroderma pigmentosum, a condition involving extreme ...
Xeroderma pigmentosum (XP) is a human autosomal recessive disease, characterised by a high incidence of sunlight-induced skin ... Tanaka K, Wood RD (February 1994). "Xeroderma pigmentosum and nucleotide excision repair of DNA". Trends Biochem. Sci. 19 (2): ...
An example of such a hereditary cancer syndrome is xeroderma pigmentosum, which causes the development of skin cancers in ... Cleaver JE (May 1968). "Defective repair replication of DNA in xeroderma pigmentosum". Nature. 218 (5142): 652-656. Bibcode: ...
Members 1 though 5 are associated with Xeroderma Pigmentosum. Members 6 and 8 are associated with Cockayne syndrome. Wolfram ...
This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this ... "Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum". Cell. 104 (3): 353-63. doi:10.1016/S0092- ...
Johnson RE, Kondratick CM, Prakash S, Prakash L (July 1999). "hRAD30 mutations in the variant form of xeroderma pigmentosum". ... Itoh T, Linn S, Kamide R, Tokushige H, Katori N, Hosaka Y, Yamaizumi M (2000). "Xeroderma pigmentosum variant heterozygotes ... GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum This article incorporates text from the United States National Library ... Johnson RE, Kondratick CM, Prakash S, Prakash L (1999). "hRAD30 mutations in the variant form of xeroderma pigmentosum". ...
Chu G, Chang E (1988). "Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA". Science. 242 ( ... 1994). "Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein" (PDF ... Nichols AF, Ong P, Linn S (1996). "Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype". J. Biol. Chem. 271 ... Keeney S, Chang GJ, Linn S (1993). "Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum ...
Samec S, Jones TA, Corlet J, Scherly D, Sheer D, Wood RD, Clarkson SG (May 1994). "The human gene for xeroderma pigmentosum ... Mutational defects in the Ercc5(Xpg) gene can cause either the cancer-prone condition xeroderma pigmentosum (XP) alone, or in ... O'Donovan A, Wood RD (May 1993). "Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5". ... Nouspikel T, Clarkson SG (June 1994). "Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G ...
Sclérodermie, névromes plexiformes, lupus verruqueux, acné hypertrophique, xeroderma pigmentosum, impr. de G. Gounouilhou ( ...
"Entrez Gene: XPC xeroderma pigmentosum, complementation group C". "OMIM Entry - # 278720 - XERODERMA PIGMENTOSUM, ... Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein which in humans is encoded by the XPC gene. XPC ... Legerski RJ, Liu P, Li L, Peterson CA, Zhao Y, Leach RJ, Naylor SL, Siciliano MJ (1994). "Assignment of xeroderma pigmentosum ... Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (2000). "The xeroderma pigmentosum group C protein complex XPC- ...
Tan T, Chu G (May 2002). "p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice". Molecular and ... Nichols AF, Ong P, Linn S (October 1996). "Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype". The Journal ... Wittschieben BØ, Iwai S, Wood RD (December 2005). "DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a ... GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum (Articles with short description, Short description matches Wikidata, ...
Hengge, UR; Emmert, S (2009). "Clinical Features of Xeroderma Pigmentosum". Molecular Mechanisms of Xeroderma Pigmentosum. ... xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum-Cockayne syndrome (XP-CS), restrictive ... a 16-year-old girl has xeroderma pigmentosum. DeSanctis-Cacchione syndrome, an extremely rare variant of xeroderma pigmentosum ... Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder, affecting about one per million in the United States and ...
Xeroderma pigmentosum List of cutaneous conditions RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome ... DeSanctis-Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) ... mutations in the CSB gene associated with either Cockayne syndrome or the de Sanctis-Cacchione variant of xeroderma pigmentosum ... mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum ...
He set up research into genetic disorders, especially xeroderma pigmentosum (XP). For this research Bootsma used human cells, ...
Examples of such genetic disorders include xeroderma pigmentosum and Bloom syndrome. Balding: AKs are commonly found on the ...
... xeroderma pigmentosum, and epidermolysis bullosa. Recently, it was shown that TALEN can be used as tools to harness the immune ... "Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™". PLOS ONE. 8 (11): e78678. Bibcode: ...
... is a summer camp for children with xeroderma pigmentosum. All activities are held after sundown, to ensure that ...
February 2001). "Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum". Cell. 104 (3): 353-363. ...
June 1999). "The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta". Nature. 399 (6737): 700-4. Bibcode ...