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AuthorAldrian, Denisedc.contributor.author
AuthorVogel, Georg F.dc.contributor.author
AuthorFrey, Teresa K.dc.contributor.author
AuthorAyyıldız Civan, Hasretdc.contributor.author
AuthorAksu, Aysel Ünlüsoydc.contributor.author
AuthorAvitzur, Yarondc.contributor.author
AuthorRamos Boluda, Estherdc.contributor.author
AuthorÇakır, Muratdc.contributor.author
AuthorDemir, Arzu Meltemdc.contributor.author
AuthorDeppisch, Carolinedc.contributor.author
AuthorDuba, Hans-Christophdc.contributor.author
AuthorDüker, Geschedc.contributor.author
AuthorGerner, Patrickdc.contributor.author
AuthorHertecant, Jozefdc.contributor.author
AuthorHornová, Jarmiladc.contributor.author
AuthorKathemann, Simonedc.contributor.author
AuthorKoeglmeier, Juttadc.contributor.author
AuthorKoutroumpa, Arsinoidc.contributor.author
AuthorLanzersdorfer, Rolanddc.contributor.author
AuthorLev-Tzion, Raffidc.contributor.author
AuthorLima, Rosadc.contributor.author
AuthorMansour, Sahardc.contributor.author
AuthorMeissl, Manfreddc.contributor.author
AuthorMelek, Jandc.contributor.author
AuthorMiqdady, Mohamaddc.contributor.author
AuthorMontoya, Jorge Hernandc.contributor.author
AuthorPosovszky, Carstendc.contributor.author
AuthorRachman, Yelenadc.contributor.author
AuthorSiahanidou, Taniadc.contributor.author
AuthorTabbers, Meritdc.contributor.author
AuthorUhlig, Holm H.dc.contributor.author
AuthorÜnal, Sevimdc.contributor.author
AuthorWirth, Stefandc.contributor.author
AuthorRuemmele, Frank M.dc.contributor.author
AuthorHess, Michael W.dc.contributor.author
AuthorHuber, Lukas A.dc.contributor.author
AuthorMüller, Thomasdc.contributor.author
AuthorSturm, Ekkeharddc.contributor.author
AuthorJanecke, Andreas R.dc.contributor.author
Date of accession2022-06-27T13:06:49Zdc.date.accessioned
Available in OPARU since2022-06-27T13:06:49Zdc.date.available
Date of first publication2021-01-28dc.date.issued
AbstractMyosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.dc.description.abstract
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
LicenseCC BY 4.0 Internationaldc.rights
Link to license texthttps://creativecommons.org/licenses/by/4.0/dc.rights.uri
Keywordcongenital diarrheal diseasesdc.subject
Keywordenteropathydc.subject
Keywordmicrovillus inclusion diseasedc.subject
KeywordMYO5Bdc.subject
Keywordmyosin Vbdc.subject
Keywordprogressive familial intrahepatic cholestasisdc.subject
KeywordPFICdc.subject
Keywordgenotype–phenotype correlationdc.subject
Keywordlack of proteindc.subject
Keywordtail domaindc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
MeSHDiarrheadc.subject.mesh
MeSHCholestasisdc.subject.mesh
MeSHMyosinsdc.subject.mesh
MeSHKontraktile Proteinedc.subject.mesh
TitleCongenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutationsdc.title
Resource typeWissenschaftlicher Artikeldc.type
SWORD Date2021-02-04T05:00:15Zdc.date.updated
VersionpublishedVersiondc.description.version
DOIhttp://dx.doi.org/10.18725/OPARU-43530dc.identifier.doi
URNhttp://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5dc.identifier.urn
GNDCholestasedc.subject.gnd
GNDDurchfalldc.subject.gnd
GNDMyosindc.subject.gnd
InstitutionUKU. Klinik für Kinder- und Jugendmedizinuulm.affiliationSpecific
Peer reviewjauulm.peerReview
DCMI TypeTextuulm.typeDCMI
CategoryPublikationenuulm.category
DOI of original publication10.3390/jcm10030481dc.relation1.doi
Source - Title of sourceJournal of Clinical Medicinesource.title
Source - Place of publicationMDPIsource.publisher
Source - Volume10source.volume
Source - Issue3source.issue
Source - Year2021source.year
Source - Article number481source.articleNumber
Source - eISSN2077-0383source.identifier.eissn
Open AccessDOAJ Gold, Green Publisheduulm.OA
WoS000615361100001uulm.identifier.wos
Bibliographyuulmuulm.bibliographie
Is Supplemented Byhttps://www.mdpi.com/2077-0383/10/3/481/s1dc.relation.isSupplementedBy


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