Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (Q28283899)

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Language	Label	Description	Also known as
English	Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)	scientific article

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (English)

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Johanson-Blizzard syndrome

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corrigendum / erratum

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

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27

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Christian T Thiel

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Christian Thiel

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Manfred Rauh

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Vera L Gil-da-Silva-Lopes

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Vera L Gil-da-Silva-Lopes

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Markus M Lerch

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Arif B Ekici

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Julia Mayerle

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Martin Zenker

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Andreas Tagariello

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Andreas Tagariello

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Georg Hülskamp

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Georg Hülskamp

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Celina Guzman

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Frits A Beemer

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Ben Hamel

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Philippe Vanlieferinghen

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Philippe Vanlieferinghen

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Ruth Gershoni-Baruch

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Ruth Gershoni-Baruch

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Miroslav Dumić

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Miroslav Dumic

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Ron Auslender

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Simone Steinlicht

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Simone Steinlicht

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Stavit A Shalev

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Stavit A Shalev

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Andreas Winterpacht

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Andreas Winterpacht

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Yong Tae Kwon

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author name string

Peter R Durie

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Matthias Beier

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Helga Rehder

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Marta W Vieira

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Alexander Varshavsky

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publication date

December 2005

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Nature Genetics

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37

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12

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1345-50

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A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption

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A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons

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The Johanson-Blizzard syndrome: case report and autopsy findings

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Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).

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21 January 2018

The Johanson-Blizzard syndrome: a second report of full autopsy findings

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Johanson-Blizzard syndrome

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Anorectal anomalies associated with or as part of other anomalies

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Peptides accelerate their uptake by activating a ubiquitin-dependent proteolytic pathway

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Back to the future with ubiquitin

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Basic Medical Research Award. The ubiquitin system

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The ubiquitin system: pathogenesis of human diseases and drug targeting

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Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development

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21 January 2018

Trypsin activity is not involved in premature, intrapancreatic trypsinogen activation

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Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis

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RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway

1 reference

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Up-regulation, nuclear import, and tumor growth stimulation of the adhesion protein p120 in pancreatic cancer

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Presence of cathepsin B in the human pancreatic secretory pathway and its role in trypsinogen activation during hereditary pancreatitis

1 reference

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The E2-E3 interaction in the N-end rule pathway: the RING-H2 finger of E3 is required for the synthesis of multiubiquitin chain

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Structural analysis of the adaptor protein ClpS in complex with the N-terminal domain of ClpA

1 reference

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The mouse and human genes encoding the recognition component of the N-end rule pathway

1 reference

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21 January 2018

The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature.

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7 January 2021

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