AUB ScholarWorks

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

Show simple item record

dc.contributor.author Kurban M.
dc.contributor.author Ghosn S.
dc.contributor.author Abbas O.
dc.contributor.author Shimomura Y.
dc.contributor.author Christiano A.
dc.contributor.editor
dc.date Feb-2010
dc.date.accessioned 2017-10-05T15:32:45Z
dc.date.available 2017-10-05T15:32:45Z
dc.date.issued 2010
dc.identifier 10.1016/j.jdermsci.2009.10.015
dc.identifier.isbn
dc.identifier.issn 09231811
dc.identifier.uri http://hdl.handle.net/10938/15373
dc.description.abstract [No abstract available]
dc.format.extent
dc.format.extent Pages: (132-134)
dc.language English
dc.publisher CLARE
dc.relation.ispartof Publication Name: Journal of Dermatological Science; Publication Year: 2010; Volume: 57; no. 2; Pages: (132-134);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
dc.type Letter
dc.contributor.affiliation Kurban, M., Department of Dermatology, Columbia University, New York, NY, United States
dc.contributor.affiliation Ghosn, S., Department of Dermatology, American University of Beirut, Lebanon
dc.contributor.affiliation Abbas, O., Department of Dermatology, American University of Beirut, Lebanon
dc.contributor.affiliation Shimomura, Y., Department of Dermatology, Columbia University, New York, NY, United States
dc.contributor.affiliation Christiano, A., Department of Dermatology, Columbia University, New York, NY, United States, Department of Genetics and Development, Columbia University, New York, NY, United States
dc.contributor.authorAddress Christiano, A.; Department of Dermatology, Columbia University, New York, NY, United States; email: amc65@columbia.edu
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Dermatology;
dc.contributor.authorDepartment Dermatology
dc.contributor.authorDivision
dc.contributor.authorEmail amc65@columbia.edu
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Kurban, M
dc.contributor.authorInitials Ghosn, S
dc.contributor.authorInitials Abbas, O
dc.contributor.authorInitials Shimomura, Y
dc.contributor.authorInitials Christiano, A
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Christiano, A (reprint author), Columbia Univ, Coll Phys and Surg, Dept Dermatol, 630 W 168th St VC-1526, New York, NY 10032 USA.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Chien AJ, 2006, J AM ACAD DERMATOL, V54, pS35, DOI 10.1016-j.jaad.2005.01.092; McKoy G, 2000, LANCET, V355, P2119, DOI 10.1016-S0140-6736(00)02379-5; Norgett EE, 2000, HUM MOL GENET, V9, P2761, DOI 10.1093-hmg-9.18.2761; Pasternack SM, 2008, NAT GENET, V40, P329, DOI 10.1038-ng.84; Shimomura Y, 2008, NAT GENET, V40, P335, DOI 10.1038-ng.100; Shimomura Y, 2009, J INVEST DERMATOL, V129, P622, DOI 10.1038-jid.2008.290; Sonoda H, 2002, J BIOL CHEM, V277, P34254, DOI 10.1074-jbc.M201659200; Takahashi T, 2003, J INVEST DERMATOL, V121, P448, DOI 10.1046-j.1523-1747.2003.12426.x; Tariq M, 2009, BRIT J DERMATOL, V160, P1006, DOI 10.1111-j.1365-2133.2009.09046.x; Yanagida K, 2009, J BIOL CHEM, V284, P17731, DOI 10.1074-jbc.M808506200
dc.description.citedCount 5
dc.description.citedTotWOSCount 4
dc.description.citedWOSCount 4
dc.format.extentCount 3
dc.identifier.articleNo
dc.identifier.coden JDSCE
dc.identifier.pubmedID 19944572
dc.identifier.scopusID 74749085366
dc.identifier.url
dc.publisher.address ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr J. Dermatol. Sci.
dc.relation.ispartOfIssue 2
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Journal of Dermatological Science
dc.relation.ispartofPubTitleAbbr J. Dermatol. Sci.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 57
dc.source.ID WOS:000274553900009
dc.type.publication Journal
dc.subject.otherAuthKeyword Hypotrichosis
dc.subject.otherAuthKeyword Lipase H
dc.subject.otherAuthKeyword P2RY5 gene
dc.subject.otherAuthKeyword Woolly hair
dc.subject.otherChemCAS asparagine, 70-47-3, 7006-34-0
dc.subject.otherChemCAS aspartic acid, 56-84-8, 6899-03-2
dc.subject.otherChemCAS triacylglycerol lipase, 9001-62-1
dc.subject.otherChemCAS Asparagine, 7006-34-0
dc.subject.otherChemCAS Aspartic Acid, 56-84-8
dc.subject.otherChemCAS LPAR4 protein, human
dc.subject.otherChemCAS Receptors, Purinergic P2
dc.subject.otherIndex asparagine
dc.subject.otherIndex aspartic acid
dc.subject.otherIndex genomic DNA
dc.subject.otherIndex lipase H
dc.subject.otherIndex purinergic P2Y receptor
dc.subject.otherIndex purinergic P2Y5 receptor
dc.subject.otherIndex triacylglycerol lipase
dc.subject.otherIndex unclassified drug
dc.subject.otherIndex amino acid substitution
dc.subject.otherIndex autosomal recessive inheritance
dc.subject.otherIndex blood sampling
dc.subject.otherIndex DNA determination
dc.subject.otherIndex DNA isolation
dc.subject.otherIndex exon
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genetic association
dc.subject.otherIndex hair disease
dc.subject.otherIndex hair loss
dc.subject.otherIndex histopathology
dc.subject.otherIndex human
dc.subject.otherIndex hypotrichosis
dc.subject.otherIndex letter
dc.subject.otherIndex linkage analysis
dc.subject.otherIndex missense mutation
dc.subject.otherIndex nonhuman
dc.subject.otherIndex phenotype
dc.subject.otherIndex physical examination
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex priority journal
dc.subject.otherIndex protein expression
dc.subject.otherIndex protein function
dc.subject.otherIndex woolly hair
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Amino Acid Sequence
dc.subject.otherIndex Amino Acid Substitution
dc.subject.otherIndex Asparagine
dc.subject.otherIndex Aspartic Acid
dc.subject.otherIndex Genes, Recessive
dc.subject.otherIndex Hair Diseases
dc.subject.otherIndex Homozygote
dc.subject.otherIndex Humans
dc.subject.otherIndex Molecular Sequence Data
dc.subject.otherIndex Mutation, Missense
dc.subject.otherIndex Receptors, Purinergic P2
dc.subject.otherIndex Syria
dc.subject.otherKeywordPlus PROTEIN-COUPLED RECEPTOR
dc.subject.otherKeywordPlus LYSOPHOSPHATIDIC ACID
dc.subject.otherKeywordPlus PHOSPHATIDIC-ACID
dc.subject.otherKeywordPlus CARDIOMYOPATHY
dc.subject.otherKeywordPlus IDENTIFICATION
dc.subject.otherKeywordPlus KERATODERMA
dc.subject.otherKeywordPlus GROWTH
dc.subject.otherWOS Dermatology


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search AUB ScholarWorks


Browse

My Account