Refimprove date August 2010 File Xeroderma knuckles.jpg thumb 200px The surface of the knuckles of a hand with xerodermaXeroderma , literally meaning dry skin , is a condition involving the integumentary system , which in most cases can safely be treated with emollient s and or moisturizer s. Xeroderma occurs most commonly on the scalp , lower human leg legs , arm s, the knuckle s, the sides of the abdomen and thigh s. Symptoms most associated with xeroderma are scale dermatology scaling the visible peeling of the outer skin layer , itching and cracks in the skin ref http www.wrongdiagnosis.com x xeroderma intro.htm Information and introductory article on wrongdianosis.com ref . Common causes Xeroderma is a very common condition. It happens more often in the winter where the cold air outside and the hot air inside creates a low relative humidity . This causes the skin to lose moisture and it may crack and peel. Bathing or hand washing too frequently, especially if one is using harsh soap s, may also contribute to xeroderma. Xeroderma can also be caused by a deficiency of vitamin A , vitamin D , systemic illness , severe sunburn , or some medication ref http www.medterms.com script main art.asp?articlekey 6038 Entry on medterms.com ref . See also Xerodermapigmentosum Eczema Ichthyosis References Reflist Category Dermatologic terminology med sign stub dermatology stub fr X rodermie ml nl Droge huid ... more details
A list of disease s in the English wikipedia. DiseasesTOC X X chromosome, duplication Xq13 1 q21 1 X chromosome, monosomy Xp22 pter X chromosome, monosomy Xq28 X chromosome, trisomy Xp3 X chromosome, trisomy Xpter Xq13 X chromosome, trisomy Xq X chromosome, trisomy Xq25 X fragile site folic acid type Xa Xk Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis, hereditary Xeroderma pigmentosum, type 1 Xeroderma pigmentosum, type 2 Xeroderma pigmentosum, type 3 Xeroderma pigmentosum, type 5 Xeroderma pigmentosum, type 6 Xeroderma pigmentosum, type 7 Xeroderma pigmentosum, variant type Xeroderma pigmentosum Xeroderma talipes enamel defects Xk aprosencephaly Xerophthalmia Xl X linked adrenal hypoplasia congenita X linked adrenoleukodystropy X linked alpha thalassemia mental retardation syndrome ATR X X linked dominant X linked ichthyosis X linked juvenile retinoschisis X linked juvenile retinoschisis X linked lymphoproliferative syndrome X linked mental retardation and macroorchidism X linked mental retardation associated with marXq2 X linked mental retardation Brooks type X linked mental retardation craniofacial abnormal microcephaly club X linked mental retardation De silva type X linked mental retardation Hamel type X linked mental retardation type Gustavson X linked mental retardation type Martinez X linked mental retardation type Raynaud X linked mental retardation type Schutz X linked mental retardation type Snyder X linked mental retardation type Wittner X linked mental retardation hypotonia X linked severe combined immunodeficiency X linked trait Xx Xy XX male syndrome XY Female XY gonadal agenesis syndrome Category Lists of diseases X ... more details
PIBI D S syndrome is similar to BIDS syndrome , but also associated with photosensitivity , and in contrast to IBIDS syndrome , the ichthyosis is mild and not congential . ref name Fitz2 Freedberg, et al. 2003 . Fitzpatrick s Dermatology in General Medicine . 6th ed. . McGraw Hill. ISBN 0071380760. ref rp 501 Additionally, there is a relationship with xeroderma pigmentosum in that virtually all PIBI D S patients have a deficiency in the nucleotide excision repair of UV induced DNA damage that is indistinguishable from that of xeroderma pigmentosum group D. ref name Fitz2 rp 501 See also BIDS syndrome IBIDS syndrome Skin lesion List of cutaneous conditions References reflist Category Genodermatoses Genodermatoses stub ... more details
The acronym XPG can refer to the following X Open Portability Guide , specifies the requirements for systems which are intended to be a Unix system, and a predecessor to the POSIX standard Xeroderma pigmentosum, complementation group G , a genetic disorder and a possible source of skin tumors XPG can be regarded as a protein involved in nucleotide excision repair .It is an endounclease involved in the damage specific incision of NER. disambig it XPG ... more details
XPC may refer to the following Pecheneg language , ISO 639 3 code xpc Shuttle Inc. Shuttle XPC , popular line of barebones computers and cases. SPEC XPC , the X Performance Characterization group working under the SPEC GPC group. XPC gene Xeroderma pigmentosum, complementation group C , a human gene disambig it XPC ... more details
DNA polymerase eta Pol is a eukaryotic DNA polymerase involved in the DNA repair Translesion synthesis DNA repair by translesion synthesis . The gene encoding DNA polymerase eta is POLH , also known as XPV, because loss of this gene results in the disease Xeroderma Pigmentosum Variant. Polymerase eta is particularly important for allowing accurate translesion synthesis of DNA damage resulting from ultraviolet radiation or UV. References refbegin http www.ncbi.nlm.nih.gov sites entrez?db gene&cmd retrieve&list uids 5429 refend Category DNA replication ... more details
PBB geneid 7508 Xerodermapigmentosum, complementation group C , also known as XPC , is a protein which ... excision repair . ref name entrez cite web title Entrez Gene XPC xerodermapigmentosum, complementation ... NER pathway. There are multiple components involved in the NER pathway, including Xerodermapigmentosum ... Clinical significance Mutations in this gene or some other NER components result in Xerodermapigmentosum ... Jan. title Xerodermapigmentosum group C protein interacts physically and functionally with thymine ... year 2001 month Jun. title Centrosome protein centrin 2 caltractin 1 is part of the xerodermapigmentosum ... C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F year 2000 month Mar. title The xerodermapigmentosum ... br.fcgi?book gene&part xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum References reflist ... in xerodermapigmentosum group C. journal Nature volume 360 issue 6404 pages 610 year 1993 pmid ... DNA repair gene involved in xerodermapigmentosum group C. journal Nature volume 359 issue ... L, et al. title Assignment of xerodermapigmentosum group C XPC gene to chromosome 3p25. journal ... CA, Legerski RJ title Characterization of molecular defects in xerodermapigmentosum group C. journal ... mediated gene transfer corrects DNA repair defect of xerodermapigmentosum cells of complementation ... journal author Yokoi M, Masutani C, Maekawa T, et al. title The xerodermapigmentosum group C protein ... 2 caltractin 1 is part of the xerodermapigmentosum group C complex that initiates global genome ... LH, Richardson AS, States JC title A summary of mutations in the UV sensitive disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy. journal Hum. Mutat. volume 14 issue 1 pages ..., et al. title Purification and cloning of a nucleotide excision repair complex involving the xerodermapigmentosum group C protein and a human homologue of yeast RAD23. journal EMBO J. volume 13 issue ... doi 10.1038 sj.gt.3300495 cite journal author Khan SG, Levy HL, Legerski R, et al. title Xeroderma ... more details
Infobox Disease Name DeSanctis Cacchione syndrome Image Caption DiseasesDB 29880 ICD10 ICD9 ICDO OMIM 278800 MedlinePlus eMedicineSubj eMedicineTopic MeshID DeSanctis Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum XP occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref Genetics In at least some case, the gene lesion involves a mutation in the Cockayne syndrome CSB gene. ref http hmg.oxfordjournals.org cgi content full 9 8 1171?view long&pmid 10767341 ref It can be associated with ERCC6 . ref name pmid10767341 cite journal author Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M title Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis cacchione variant of xeroderma pigmentosum journal Hum. Mol. Genet. volume 9 issue 8 pages 1171 5 year 2000 month May pmid 10767341 doi url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 10767341 ref See also Xeroderma pigmentosum List of cutaneous conditions References reflist DNA repair deficiency disorder DEFAULTSORT Desanctis Cacchione Syndrome Category Genodermatoses Dermatology stub ... more details
group 5 xerodermapigmentosum, complementation group G is involved in excision repair of UV induced ... deficiency, complementation group 5 xerodermapigmentosum, complementation group G Cockayne syndrome ... bookshelf br.fcgi?book gene&part xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum References ... sensitive disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy. journal Hum ... T, et al. title An ERCC5 gene with homology to yeast RAD2 is involved in group G xerodermapigmentosum ... Human xerodermapigmentosum group G gene encodes a DNA endonuclease. journal Nucleic Acids Res ... of the DNA repair defect in xerodermapigmentosum group G cells by a human cDNA related to yeast RAD2 ... journal author O Donovan A, Wood RD title Identical defects in DNA repair in xerodermapigmentosum ..., Xerodermapigmentosum type G, in the nucleus. journal Proc. Natl. Acad. Sci. U.S.A. volume 93 ... xerodermapigmentosum group G implications for a second XPG function. journal Proc. Natl. Acad. Sci ... journal author Nouspikel T, Clarkson SG title Mutations that disable the DNA repair gene XPG in a xerodermapigmentosum group G patient. journal Hum. Mol. Genet. volume 3 issue 6 pages 963 7 year 1994 ... more details
br.fcgi?book gene&part xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum References ... I, Tanaka K, Okada Y title Molecular basis of group A xerodermapigmentosum a missense mutation ... of the xerodermapigmentosum group A complementing protein. Identification of essential domains ... Characterization of a splicing mutation in group A xerodermapigmentosum. journal Proc. Natl. Acad ... of xpac protein, the gene product of the human XPAC xerodermapigmentosum group A complementing ... gene involved in group A xerodermapigmentosum and containing a zinc finger domain. journal Nature ... of xerodermapigmentosum group A gene. journal Jpn. J. Hum. Genet. volume 38 issue 1 pages 1 14 year ... LH, Richardson AS, States JC title A summary of mutations in the UV sensitive disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy. journal Hum. Mutat. volume 14 issue 1 ... of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xerodermapigmentosum. journal Mutat. Res. volume 273 issue 2 pages 203 12 year 1992 pmid 1372103 doi cite ... more details
CM, Prakash S, Prakash L title hRAD30 mutations in the variant form of xerodermapigmentosum ... type of xerodermapigmentosum . ref name pmid12405351 cite journal author Stary A, Sarasin A title ... 01343 8 issn ref Clinical significance Xerodermapigmentosum XP is an autosomal recessive human disease ... xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum Further reading refbegin 2 PBB Further reading citations cite journal author Masutani C, Kusumoto R, Yamada A, et al. title The XPV xerodermapigmentosum variant gene encodes human DNA polymerase eta. journal Nature volume 399 issue 6737 pages ... S, Prakash L title hRAD30 mutations in the variant form of xerodermapigmentosum. journal Science ... and identification of mutations in the xerodermapigmentosum variant XPV gene. journal Oncogene volume ... T, Linn S, Kamide R, et al. title Xerodermapigmentosum variant heterozygotes show reduced levels ... induced replication arrest in the xerodermapigmentosum variant leads to DNA double strand breaks ... eta in xerodermapigmentosum variant patients. journal Proc. Natl. Acad. Sci. U.S.A. volume 99 issue ... of mutations in a patient with xerodermapigmentosum variant. journal J. Immunol. volume 169 issue ... F title Complementation of defective translesion synthesis and UV light sensitivity in xerodermapigmentosum variant cells by human and mouse DNA polymerase eta. journal Nucleic Acids Res. volume ... more details
Infobox book series name Moonlight Bay Trilogy author Dean Koontz language English genre Horror fiction Horror publisher Cemetery Dance Publications , Bantam Books Bantam Publishing The Moonlight Bay Trilogy is a proposed trilogy of three novels by Dean Koontz . They revolve around the mysterious events in Moonlight Bay that are investigated by the main character Christopher Snow , who suffers from the genetic disorder Xeroderma pigmentosum . Only the first two books have been released. The books in the trilogy are Fear Nothing , 1998 , ISBN 0 7472 5832 5 Paperback , ISBN 0 553 10664 3 Hardback Seize the Night , 1999 , ISBN 0 7472 5833 3 Paperback , ISBN 0 553 10665 1 Hardback Ride the Storm novel Ride the Storm Tentative title , TBA According to a January 14, 2000 interview with Bookreporter.com, Dean Koontz was quoted as saying I m half way through Ride the Storm , the third Christopher Snow story, but another book will appear between False Memory and Ride . As of 2003, Koontz was still reportedly halfway through Ride the Storm. ref name teenreads http www.teenreads.com authors au koontz dean.asp Interview with Dean Koontz , teenreads.com, 2003 ref Footnotes reflist Category Novel series Category Upcoming books fr Trilogie de Moonlight Bay ... more details
Unreferenced stub auto yes date December 2009 Excision endonuclease also known as excinuclease is a nuclease enzyme which excises a fragment of nucleotides during DNA repair . The excinuclease cuts out a fragment by hydrolyzing two phosphodiester bonds, one on either side of the lesion in the DNA. This process is part of nucleotide excision repair , a mechanism that can fix specific damages to the DNA in the G1 phase of the eukaryotic cell cycle . Such damages can include the thymine dimers created by UV rays. A deficiency of excinuclease occurs in a rare autosomal recessive disease called xeroderma pigmentosum . Diagnosis of this disease is done by measuring the enzyme s level in white blood cells in a blood sample. Symptoms in children include extreme ultraviolet UV sensitivity, excessive freckle freckling , multiple skin cancer s and corneal ulcer ations. Typically, these symptoms are seen during a child s first sun exposure. Citation needed date November 2009 Category DNA repair Enzyme stub ca escinucleasa es escinucleasa ... more details
PBB geneid 2071 XPB XerodermaPigmentosum B is an Adenosine triphosphate ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex. Structure The 3D structure of the archeael homologue of XPB has been solved by X ray crystallography by Dr. John Tainer and his group at The Scripps Research Institute . ref cite journal author Fan L, Arvai A, Cooper P, Iwai S, Hanaoka F, Tainer J title Conserved XPB core structure and motifs for DNA unwinding implications for pathway selection of transcription or excision repair journal Mol Cell volume 22 issue 1 pages 27 37 year 2006 pmid 16600867 doi 10.1016 j.molcel.2006.02.017 ref Function XPB plays a significant role in normal ... complementation groups, XPA XPG, leads to a number of genetic disorders such as XerodermaPigmentosum ... The xerodermapigmentosum group C protein complex XPC HR23B plays an important role in the recruitment ... Jan. title The BCR ABL oncoprotein potentially interacts with the xerodermapigmentosum group B protein ... . ref name pmid15220921 ref name pmid9118947 See also Xerodermapigmentosum, complementation group ... disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy. journal Hum. Mutat .... title Localization of the xerodermapigmentosum group B correcting gene ERCC3 to human chromosome 2q21 ... XPBC ERCC 3 gene involved in DNA repair disorders xerodermapigmentosum and Cockayne s syndrome ... in the human repair disorders xerodermapigmentosum and Cockayne s syndrome. journal Cell volume ... van Vuuren AJ, Vermeulen W, Ma L, et al. title Correction of xerodermapigmentosum repair defect ... within xerodermapigmentosum associated with mutations in the DNA repair and transcription ... 1918172 cite journal author Scott RJ, Itin P, Kleijer WJ, et al. title Xerodermapigmentosum Cockayne ... transcription factor TFIIH of xerodermapigmentosum group B affects both DNA repair and transcription ... xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum MeshName XPBC ERCC 3 protein The PBB Controls ... more details
al. title Molecular and cellular analysis of the DNA repair defect in a patient in xerodermapigmentosum complementation group D who has the clinical features of xerodermapigmentosum and Cockayne ... in the UV sensitive disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy ... 1004 1999 14 1 9 AID HUMU2 3.0.CO 2 6 cite journal author Lehmann AR title The xerodermapigmentosum ... xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum MeshName ERCC2 Protein The PBB Controls template ... more details
al. title Xerodermapigmentosum group C protein complex is the initiator of global genome nucleotide ... of the xerodermapigmentosum group C complex that initiates global genome nucleotide excision repair ... of DNA repair by damage induced and RAD23 dependent stabilization of xerodermapigmentosum group ... pnas.242603899 pmc 139241 cite journal author Shimizu Y, Iwai S, Hanaoka F, Sugasawa K title Xerodermapigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. journal ... more details
and II. Xerodermapigmentosum Cockayne syndrome XP CS occurs when an individual also suffers from Xerodermapigmentosum , another DNA repair disease. Some symptoms of each disease are expressed. Genetics ... is subdivided into several conditions COFS type 1, 2, 3 which is itself is associated with XerodermaPigmentosum and type 4 . ref http www.ncbi.nlm.nih.gov entrez dispomim.cgi?id 610756 ref ref http ... more details
activity causes the repair defect in the patients with xerodermapigmentosum complementation group ... author Chu G, Chang E title Xerodermapigmentosum group E cells lack a nuclear factor that binds ... Correction of the DNA repair defect in xerodermapigmentosum group E by injection of a DNA damage ... Characterization of a human DNA damage binding protein implicated in xerodermapigmentosum E. journal ... in xerodermapigmentosum group E cells. journal Mutat. Res. volume 362 issue 1 pages 105 17 year 1996 pmid 8538642 doi cite journal author Nichols AF, Ong P, Linn S title Mutations specific to the xerodermapigmentosum group E Ddb phenotype. journal J. Biol. Chem. volume 271 issue 40 pages 24317 ... more details
on XerodermaPigmentosum References reflist Further reading refbegin 2 PBB Further reading citations ... in the UV sensitive disorders xerodermapigmentosum, Cockayne syndrome, and trichothiodystrophy. journal ... RR, et al. title Xerodermapigmentosum group F caused by a defect in a structure specific DNA repair ... Y, Nishigori C, Yagi T, et al. title Characterization of molecular defects in xerodermapigmentosum ... author Chen Z, Xu XS, Harrison J, Wang G title Defining the function of xerodermapigmentosum group ... more details
Letter NumberCombination XO XQ WP YP wiktionary XP may refer to Windows XP , an operating system by Microsoft Microsoft Office XP Office XP , a Microsoft Office version Chi Rho Chi Rho are the Greek letters that form the Labarum, or the first two letters of Christ in Greek Athlon Athlon XP MP Athlon XP , a line of central processing units by AMD Cross platform X looks like a saltire cross and is often used to replace this word or its synonyms in abbreviations An emoticon expressing disgust, general discontentedness, sticking one s tongue out a more forceful version of P , or being dead . The X represents wincing or crossed out eyes, while the P represents a mouth with a tongue sticking out. Experience point s, in a role playing game, representation of a character s advancement and improvement in skills Extreme Programming , a software engineering methodology Xeroderma pigmentosum , a rare genetic disorder Xtra Airways IATA code In theoretical linguistics , any kind of a phrase, such as a noun phrase NP , an adjectival phrase AP , a prepositional phrase PP etc. disambig zh min nan XP bg XP cs XP da XP de XP es XP fa XP fr XP ko XP it XP he XP sw XP nl XP ja XP pl XP pt XP ru XP fi XP sv XP uk XP zh XP ... more details
Ride the Storm is the final book in the Moonlight Bay Trilogy written by New York Times NYT best selling author Dean Koontz . The book is the third installment featuring Christopher Snow, a young man who suffers from the rare but real disease called XP xeroderma pigmentosum . Book one, Fear Nothing , was released in 1998, and book two, Seize the Night , was released in 1999. According to a January 14, 2000 interview with Bookreporter.com, Dean Koontz was quoted as saying I m half way through Ride the Storm , the third Christopher Snow story, but another book will appear between False Memory and Ride . As of 2003, Koontz was still halfway through Ride the Storm . ref name teenreads http www.teenreads.com authors au koontz dean.asp Interview with Koontz , teenreads.com, 2003. ref In a Frequently Asked Questions pamphlet delivered with Koontz official email newsletter Useless News , Koontz writes The third Chris Snow novel after FEAR NOTHING and SEIZE THE NIGHT will be written, God willing, but has been delayed because other ideas demand attention first. RIDE THE STORM, the third Snow, has been cooking for a long time, but it s a delicate dish to develop. Citation needed date December 2010 Footnotes reflist Category Novel series Category Thriller novels Category Novels by Dean Koontz Category Upcoming books thriller novel stub ... more details
protein centrin 2 caltractin 1 is part of the xerodermapigmentosum group C complex that initiates ... 2 caltractin 1 is part of the xerodermapigmentosum group C complex that initiates global genome ... author Popescu A, Miron S, Blouquit Y, et al. title Xerodermapigmentosum group C protein possesses ... E, et al. title Centrin 2 stimulates nucleotide excision repair by interacting with xerodermapigmentosum group C protein. journal Mol. Cell. Biol. volume 25 issue 13 pages 5664 74 year 2005 pmid ... more details
xp GeneReviews NIH NCBI UW entry on XerodermaPigmentosum References reflist Further reading refbegin ... journal author Nichols AF, Ong P, Linn S title Mutations specific to the xerodermapigmentosum group ... journal author Tan T, Chu G title p53 Binds and activates the xerodermapigmentosum DDB2 gene in humans ... more details
Europe Xerodermapigmentosum, Cockayne syndrome and trichothiodystrophy journal DNA Repair Amst. volume ... linkinghub.elsevier.com retrieve pii S1568 7864 08 00042 6 ref Werner syndrome Xerodermapigmentosum ... syndrome and xerodermapigmentosum display symptoms dominated by vulnerability to cancer, whereas ... more details
Encyclopedia
top
