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Article: Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

TitleMutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
Authors
Issue Date2006
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 2006, v. 79 n. 5, p. 949-957 How to Cite?
AbstractClaudins are major components of tight junctions and contribute to the epithelial-harrier function by restricting free diffusion of solutes through the paracellular pathway. We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a member of the claudin multigene family, in patients affected by hypomagnesemia, renal failure, and severe ocular abnormalities. CLDN19 encodes the tight-junction protein claudin-19, and we demonstrate high expression of CLDN19 in renal tubules and the retina. The identified mutations interfere severely with either cell-membrane trafficking or the assembly of the claudin-19 protein. The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudln-19 for normal renal tubular function and undisturbed organization and development of the retina. © 2006 by The American Society of Human Genetics. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/45384
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKonrad, Men_HK
dc.contributor.authorSchaller, Aen_HK
dc.contributor.authorSeelow, Den_HK
dc.contributor.authorPandey, AVen_HK
dc.contributor.authorWaldegger, Sen_HK
dc.contributor.authorLesslauer, Aen_HK
dc.contributor.authorVitzthum, Hen_HK
dc.contributor.authorSuzuki, Yen_HK
dc.contributor.authorLuk, JMen_HK
dc.contributor.authorBecker, Cen_HK
dc.contributor.authorSchlingmann, KPen_HK
dc.contributor.authorSchmid, Men_HK
dc.contributor.authorRodriguezSoriano, Jen_HK
dc.contributor.authorAriceta, Gen_HK
dc.contributor.authorCano, Fen_HK
dc.contributor.authorEnriquez, Ren_HK
dc.contributor.authorJüppner, Hen_HK
dc.contributor.authorBakkaloglu, SAen_HK
dc.contributor.authorHediger, MAen_HK
dc.contributor.authorGallati, Sen_HK
dc.contributor.authorNeuhauss, SCFen_HK
dc.contributor.authorNürnberg, Pen_HK
dc.contributor.authorWeber, Sen_HK
dc.date.accessioned2007-10-30T06:24:19Z-
dc.date.available2007-10-30T06:24:19Z-
dc.date.issued2006en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 2006, v. 79 n. 5, p. 949-957en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45384-
dc.description.abstractClaudins are major components of tight junctions and contribute to the epithelial-harrier function by restricting free diffusion of solutes through the paracellular pathway. We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a member of the claudin multigene family, in patients affected by hypomagnesemia, renal failure, and severe ocular abnormalities. CLDN19 encodes the tight-junction protein claudin-19, and we demonstrate high expression of CLDN19 in renal tubules and the retina. The identified mutations interfere severely with either cell-membrane trafficking or the assembly of the claudin-19 protein. The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudln-19 for normal renal tubular function and undisturbed organization and development of the retina. © 2006 by The American Society of Human Genetics. All rights reserved.en_HK
dc.format.extent4462426 bytes-
dc.format.extent419033 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican Journal of Human Genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshKidney Failure, Chronic - geneticsen_HK
dc.subject.meshMagnesium Deficiency - geneticsen_HK
dc.subject.meshMembrane Proteins/chemistry - genetics - metabolismen_HK
dc.subject.meshTight Junctions - geneticsen_HK
dc.subject.meshChromosomes, Human, Pair 1 - geneticsen_HK
dc.titleMutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=79&issue=5&spage=949&epage=957&date=2006&atitle=Mutations+in+the+Tight-Junction+Gene+Claudin+19+(CLDN19)+Are+Associated+with+Renal+Magnesium+Wasting,+Renal+Failure,+and+Severe+Ocular+Involvementen_HK
dc.identifier.emailLuk, JM: jmluk@hkucc.hku.hken_HK
dc.identifier.authorityLuk, JM=rp00349en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1086/508617en_HK
dc.identifier.pmid17033971-
dc.identifier.pmcidPMC1698561-
dc.identifier.scopuseid_2-s2.0-33751097262en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33751097262&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume79en_HK
dc.identifier.issue5en_HK
dc.identifier.spage949en_HK
dc.identifier.epage957en_HK
dc.identifier.isiWOS:000241667400016-
dc.publisher.placeUnited Statesen_HK
dc.identifier.f10001047788-
dc.identifier.scopusauthoridKonrad, M=7005482405en_HK
dc.identifier.scopusauthoridSchaller, A=9939071400en_HK
dc.identifier.scopusauthoridSeelow, D=6506423915en_HK
dc.identifier.scopusauthoridPandey, AV=7201771260en_HK
dc.identifier.scopusauthoridWaldegger, S=7005532675en_HK
dc.identifier.scopusauthoridLesslauer, A=15065822000en_HK
dc.identifier.scopusauthoridVitzthum, H=7004110298en_HK
dc.identifier.scopusauthoridSuzuki, Y=15065915700en_HK
dc.identifier.scopusauthoridLuk, JM=7006777791en_HK
dc.identifier.scopusauthoridBecker, C=7402823066en_HK
dc.identifier.scopusauthoridSchlingmann, KP=8573263400en_HK
dc.identifier.scopusauthoridSchmid, M=15066119100en_HK
dc.identifier.scopusauthoridRodriguezSoriano, J=7006844537en_HK
dc.identifier.scopusauthoridAriceta, G=6602702810en_HK
dc.identifier.scopusauthoridCano, F=7006198822en_HK
dc.identifier.scopusauthoridEnriquez, R=7004774999en_HK
dc.identifier.scopusauthoridJüppner, H=7006132081en_HK
dc.identifier.scopusauthoridBakkaloglu, SA=6701364048en_HK
dc.identifier.scopusauthoridHediger, MA=7102961986en_HK
dc.identifier.scopusauthoridGallati, S=6701430592en_HK
dc.identifier.scopusauthoridNeuhauss, SCF=6701398760en_HK
dc.identifier.scopusauthoridNürnberg, P=7005697981en_HK
dc.identifier.scopusauthoridWeber, S=7401927008en_HK
dc.identifier.citeulike6659712-

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