Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing - Wikidata - wikimedia - TriplyDB

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

http://www.wikidata.org/entity/Q24644426

about

Exploring the metabolic syndrome: Nonalcoholic fatty pancreas disease Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome Eponym: Johanson-Blizzard syndrome.Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool.Mutations in the human UBR1 gene and the associated phenotypic spectrum.Ubiquitination and the Regulation of Membrane Proteins.Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.Clinical utility gene card for: Johanson-Blizzard syndrome.The Clinical Implications of Fatty Pancreas: A Concise Review.

P2860

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P2860

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

http://www.wikidata.org/entity/Q24644426

description

2008 nî lūn-bûn

@nan

2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@ast

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@en

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@nl

type

label

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@ast

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@en

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@nl

prefLabel

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@ast

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@en

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@nl

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World Journal of Gastroenterology

P1476

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

@en

P2093

Amy Shealy

http://www.w3.org/2001/XMLSchema#string

Barbara Kaplan

http://www.w3.org/2001/XMLSchema#string

Carol Crowe

http://www.w3.org/2001/XMLSchema#string

Marsha Kay

http://www.w3.org/2001/XMLSchema#string

Naim Alkhouri

http://www.w3.org/2001/XMLSchema#string

Susanne Bauhuber

http://www.w3.org/2001/XMLSchema#string

P2860

Back to the future with ubiquitin

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

Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.

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

The Johanson-Blizzard syndrome: case report and autopsy findings.

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

Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.

Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome.

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

The ubiquitin system: pathogenesis of human diseases and drug targeting.

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scholarly article

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3733325

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10.3748/WJG.14.6863

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44

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14

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2773884

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