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dc.contributor.authorSukalo, Maja
dc.contributor.authorFiedler, Ariane
dc.contributor.authorGuzman, Celina
dc.contributor.authorSpranger, Stephanie
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorMcheik, Jiad N.
dc.contributor.authorBenavent, Manuel Oltra
dc.contributor.authorCobben, Jan M.
dc.contributor.authorGillis, Lynette A.
dc.contributor.authorShealy, Amy G.
dc.contributor.authorDeshpande, Charu
dc.contributor.authorBozorgmehr, Bita
dc.contributor.authorEverman, David B.
dc.contributor.authorStattin, Eva-Lena
dc.contributor.authorLiebelt, Jan
dc.contributor.authorKeller, Klaus-Michael
dc.contributor.authorBertola, Debora Romeo
dc.contributor.authorvan Karnebeek, Clara D. M.
dc.contributor.authorBergmann, Carsten
dc.contributor.authorLiu, Zhifeng
dc.contributor.authorDueker, Gesche
dc.contributor.authorRezaei, Nima
dc.contributor.authorAlkuraya, Fowzan S.
dc.contributor.authorOgur, Gonul
dc.contributor.authorAlrajoudi, Abdullah
dc.contributor.authorVenegas-Vega, Carlos A.
dc.contributor.authorVerbeek, Nienke E.
dc.contributor.authorRichmond, Erick J.
dc.contributor.authorKirbiyik, Ozgur
dc.contributor.authorRanganath, Prajnya
dc.contributor.authorSingh, Ankur
dc.contributor.authorGodbole, Koumudi
dc.contributor.authorAli, Fouad A. M.
dc.contributor.authorAlves, Cresio
dc.contributor.authorMayerle, Julia
dc.contributor.authorLerch, Markus M.
dc.contributor.authorWitt, Heiko
dc.contributor.authorZenker, Martin
dc.identifier.citationHuman Mutation. Hoboken: Wiley-Blackwell, v. 35, n. 5, p. 521-531, 2014.
dc.description.abstractJohanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n=29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. the review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. for all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.en
dc.description.sponsorshipGerman Research Foundation
dc.relation.ispartofHuman Mutation
dc.rightsAcesso restrito
dc.subjectJohanson-Blizzard syndromeen
dc.subjectexocrine pancreatic insufficiencyen
dc.subjectaplasia of alae nasien
dc.subjectcognitive impairmenten
dc.titleMutations in the Human UBR1 Gene and the Associated Phenotypic Spectrumen
dc.contributor.institutionUniv Hosp Magdeburg
dc.contributor.institutionUniv Hosp Erlangen
dc.contributor.institutionHosp Nacl Ninos Dr Carlos Saenz Herrera
dc.contributor.institutionKlinikum Bremen Mitte
dc.contributor.institutionCHU Vaudois
dc.contributor.institutionUniv Hosp
dc.contributor.institutionHosp La Fe
dc.contributor.institutionAMC Univ Hosp
dc.contributor.institutionVanderbilt Univ
dc.contributor.institutionCleveland Clin
dc.contributor.institutionGuys Hosp
dc.contributor.institutionKariminejad Najmabadi Pathol & Genet Ctr
dc.contributor.institutionGreenwood Genet Ctr
dc.contributor.institutionUmea Univ
dc.contributor.institutionWomens & Childrens Hosp
dc.contributor.institutionStiftung Deutsch Klin Diagnost GmbH
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv British Columbia
dc.contributor.institutionCtr Human Genet
dc.contributor.institutionNanjing Med Univ
dc.contributor.institutionUniv Klinikum Bonn
dc.contributor.institutionUniv Tehran Med Sci
dc.contributor.institutionKing Faisal Specialist Hosp & Res Ctr
dc.contributor.institutionOndokuz Mayis Univ
dc.contributor.institutionAl Thawra Teaching Hosp
dc.contributor.institutionHosp Gen Mexico City
dc.contributor.institutionUniv Med Ctr Utrecht
dc.contributor.institutionNatl Childrens Hosp
dc.contributor.institutionSisli Etfal Res Hosp
dc.contributor.institutionNizams Inst Med Sci
dc.contributor.institutionMaulana Azad Med Coll
dc.contributor.institutionDeenanath Mangeshkar Hosp & Res Ctr
dc.contributor.institutionMinist Hlth
dc.contributor.institutionUniversidade Federal da Bahia (UFBA)
dc.contributor.institutionErnst Moritz Arndt Univ Greifswald
dc.contributor.institutionTech Univ Munich
dc.description.affiliationUniv Hosp Magdeburg, Inst Human Genet, D-39120 Magdeburg, Germany
dc.description.affiliationUniv Hosp Erlangen, Inst Human Genet, Erlangen, Germany
dc.description.affiliationHosp Nacl Ninos Dr Carlos Saenz Herrera, Dept Med, San Jose, Costa Rica
dc.description.affiliationKlinikum Bremen Mitte, Bremen, Germany
dc.description.affiliationCHU Vaudois, Dept Med Genet, CH-1011 Lausanne, Switzerland
dc.description.affiliationUniv Hosp, Dept Pediat Surg, Poitiers, France
dc.description.affiliationHosp La Fe, Dept Pediat, E-46009 Valencia, Spain
dc.description.affiliationAMC Univ Hosp, Dept Pediat Genet, Amsterdam, Netherlands
dc.description.affiliationVanderbilt Univ, Monroe Carell Jr Childrens Hosp, Div Pediat Gastroenterol Hepatol & Nutr, Nashville, TN 37235 USA
dc.description.affiliationCleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA
dc.description.affiliationGuys Hosp, London SE1 9RT, England
dc.description.affiliationKariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
dc.description.affiliationGreenwood Genet Ctr, Greenwood, SC 29646 USA
dc.description.affiliationUmea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden
dc.description.affiliationWomens & Childrens Hosp, SA Clin Genet Serv, Adelaide, SA, Australia
dc.description.affiliationStiftung Deutsch Klin Diagnost GmbH, Fachbereich Kinder & Jugendmed, Wiesbaden, Germany
dc.description.affiliationUniv São Paulo, Dept Pediat, São Paulo, Brazil
dc.description.affiliationUniv British Columbia, Dept Pediat, Div Biochem Dis, BC Childrens Hosp, Vancouver, BC V6T 1W5, Canada
dc.description.affiliationCtr Human Genet, Ingelheim, Germany
dc.description.affiliationNanjing Med Univ, Nanjing Childrens Hosp, Dept Digest Dis, Nanjing, Jiangsu, Peoples R China
dc.description.affiliationUniv Klinikum Bonn, Zentrum Kinderheilkunde, Bonn, Germany
dc.description.affiliationUniv Tehran Med Sci, Childrens Med Ctr, Res Ctr Immunodeficiencies, Tehran, Iran
dc.description.affiliationUniv Tehran Med Sci, Dept Immunol, Tehran, Iran
dc.description.affiliationKing Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
dc.description.affiliationOndokuz Mayis Univ, Dept Med, Samsun, Turkey
dc.description.affiliationOndokuz Mayis Univ, Dept Pediat Genet, Samsun, Turkey
dc.description.affiliationAl Thawra Teaching Hosp, Dept Pediat, Sanaa, Yemen
dc.description.affiliationHosp Gen Mexico City, Fac Med, Dept Human Genet, Mexico City, DF, Mexico
dc.description.affiliationUniv Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
dc.description.affiliationNatl Childrens Hosp, San Jose, Costa Rica
dc.description.affiliationSisli Etfal Res Hosp, Dept Med Genet, Istanbul, Turkey
dc.description.affiliationNizams Inst Med Sci, Dept Med Genet, Hyderabad, Andhra Pradesh, India
dc.description.affiliationMaulana Azad Med Coll, Dept Pediat, New Delhi, India
dc.description.affiliationDeenanath Mangeshkar Hosp & Res Ctr, Dept Genet, Erandawane, India
dc.description.affiliationMinist Hlth, Dept Pediat, Manama, Bahrain
dc.description.affiliationUniv Fed Bahia, Fac Med, Hosp Univ Prof Edgar Santos, Pediat Endocrinol Unit, Salvador, BA, Brazil
dc.description.affiliationErnst Moritz Arndt Univ Greifswald, Univ Med, Dept Med A, Greifswald, Germany
dc.description.affiliationTech Univ Munich, Else Kroner Fresenius Zentrum Ernahrungsmed, Freising Weihenstephan, Germany
dc.description.affiliationTech Univ Munich, Zent Inst Ernahrungs & Lebensmittelforsch, Freising Weihenstephan, Germany
dc.description.affiliationTech Univ Munich, Klinikum Rechts Isar, Dept Pediat, D-80290 Munich, Germany
dc.description.sponsorshipIDGerman Research Foundation: DFG ZE 524/2-3
dc.description.sourceWeb of Science
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