Genetic basis and pancreatic biology of Johanson-Blizzard syndrome

Endocrinology and Metabolism Clinics of North America
Martin ZenkerMarkus M Lerch

Abstract

The most recent elucidation of an inherited disorder of the pancreas concerns the Johanson-Blizzard syndrome (JBS). Positional cloning identified loss-of-function mutations in the UBRI gene on the long arm of chromosome 15 to be the cause of JBS in more than a dozen patients. In patients with JBS the absence of UBRI results in early prenatal destruction of the exocrine pancreas that involves impaired apoptosis, induced necrosis, and prominent inflammation. Knockout mice with absent UBR1 expression suffer from exocrine pancreatic insufficiency and increased susceptibility to experimental pancreatitis. The UBR1 protein substrate, presumably impaired degradation of which causes JBS, is not yet known.

References

Jan 1, 1979·American Journal of Medical Genetics·D L DaentlJ M Opitz
Jan 1, 1992·Annual Review of Biochemistry·A Hershko, A Ciechanover
Mar 1, 1991·Digestive Diseases and Sciences·D R Trellis, R E Clouse
Jan 1, 1991·Klinische Pädiatrie·S Rudnik-SchönebornK Zerres
Jan 1, 1987·American Journal of Medical Genetics·J B MoeschlerR S Amato
Sep 1, 1985·American Journal of Medical Genetics·J B Moeschler, M S Lubinsky
Oct 29, 1996·Proceedings of the National Academy of Sciences of the United States of America·A Varshavsky
Sep 21, 2000·The Journal of Clinical Investigation·W HalangkJ Deussing
Oct 4, 2000·Nature Medicine·A HershkoA Varshavsky
Jan 12, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·W J Steinbach, R L Hintz
Jan 24, 2002·American Journal of Physiology. Gastrointestinal and Liver Physiology·Walter HalangkMarkus M Lerch
Jul 6, 2002·Science·Yong Tae KwonAlexander Varshavsky
Jul 13, 2002·American Journal of Medical Genetics·Alfred Cuschieri, UNKNOWN EUROCAT Working Group
Oct 31, 2003·Molecular and Cellular Biology·Yong Tae KwonAlexander Varshavsky
Jan 28, 2004·Cell·Cecile M Pickart
Dec 2, 2004·Biochimica Et Biophysica Acta·Aaron Ciechanover, Alan L Schwartz
Aug 2, 2005·Molecular and Cellular Biology·Takafumi TasakiYong Tae Kwon
Aug 14, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·K CosteP Vanlieferinghen

❮ Previous
Next ❯

Citations

Jun 30, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Katharina SchonerHelga Rehder
Dec 6, 2008·World Journal of Gastroenterology : WJG·Naim AlkhouriMartin Zenker
Jun 18, 2010·European Journal of Pediatrics·Nima RezaeiMartin Zenker
Jan 30, 2007·Gastroenterology·David A CanoMartin Zenker
Jun 17, 2008·American Journal of Medical Genetics. Part a·Mohammed S Al-DosariFowzan S Alkuraya
Nov 14, 2008·American Journal of Medical Genetics. Part a·Mariet EltingJan M Cobben
Mar 7, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Curtis K DeutschLewis B Holmes
Mar 19, 2016·American Journal of Medical Genetics. Part a·Jorge Román Corona-RiveraMaja Sukalo
Mar 7, 2014·Human Mutation·Maja SukaloMartin Zenker
Nov 27, 2014·Cellular and Molecular Life Sciences : CMLS·Kari ParsonsMinh Dang Nguyen
Jul 12, 2016·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Atsushi MasamuneTooru Shimosegawa
Apr 11, 2017·Structure·Juliana Muñoz-EscobarKalle Gehring
Sep 20, 2019·Nutrition in Clinical Practice : Official Publication of the American Society for Parenteral and Enteral Nutrition·Senthilkumar SankararamanThomas J Sferra
Sep 30, 2016·World Journal of Gastroenterology : WJG·Roberto CatanzaroFrancesco Marotta
Jun 18, 2020·Biomolecules·Dominique LeboeufKonstantin Piatkov
Aug 10, 2017·Digestive Diseases and Sciences·Tawfik KhouryMeir Mizrahi
Jan 26, 2020·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Shu LiuWeihong Zeng
Sep 24, 2015·Development·Rachel E JenningsNeil A Hanley

❮ Previous
Next ❯

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Related Papers

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
J N McheikG Levard
The Journal of Pediatrics
K KristjanssonM J Cohen
Journal of Medical Genetics
J A Hurst, M Baraitser
© 2022 Meta ULC. All rights reserved