Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity - Wikidata - wikimedia - TriplyDB

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

http://www.wikidata.org/entity/Q28268714

about

Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome The EIF2AK3 gene region and type I diabetes in subjects from South India ER chaperones in mammalian development and human diseases Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability Translational control by eIF2α kinases in long-lasting synaptic plasticity and long-term memory.Brain-specific disruption of the eIF2α kinase PERK decreases ATF4 expression and impairs behavioral flexibility.Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation.Many faces of monogenic diabetes PERK: a novel therapeutic target for neurodegenerative diseases?PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway.Wolcott-Rallison syndrome Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.Conserved intermolecular salt bridge required for activation of protein kinases PKR, GCN2, and PERK.Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.Permanent diabetes during the first year of life: multiple gene screening in 54 patients Perk gene dosage regulates glucose homeostasis by modulating pancreatic β-cell functions.Getting the better of ER stress.Proinsulin misfolding and endoplasmic reticulum stress during the development and progression of diabetes.Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations The eIF2 kinase PERK and the integrated stress response facilitate activation of ATF6 during endoplasmic reticulum stress.Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.PERK is required in the adult pancreas and is essential for maintenance of glucose homeostasis.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.Circadian control of β-cell function and stress responses.Eukaryotic initiation factor 2 phosphorylation and translational control in metabolism.The unfolded protein response: a pathway that links insulin demand with beta-cell failure and diabetes Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?Insulin secretion and Ca2+ dynamics in β-cells are regulated by PERK (EIF2AK3) in concert with calcineurin.Endoplasmic reticulum stress-induced apoptosis in the development of diabetes: is there a role for adipose tissue and liver?Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.Aberrant islet unfolded protein response in type 2 diabetes Deficiency of the BiP cochaperone ERdj4 causes constitutive endoplasmic reticulum stress and metabolic defects The eIF2α kinase PERK limits the expression of hippocampal metabotropic glutamate receptor-dependent long-term depression.The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells.Management of diabetes mellitus in infants.Regulatory crosstalk within the mammalian unfolded protein response.

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Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

http://www.wikidata.org/entity/Q28268714

description

2004 nî lūn-bûn

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2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2004 թվականի հուլիսին հրատարակված գիտական հոդված

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2004年の論文

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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DIABETES.53.7.1876

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Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity

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A Kemal Topaloglu

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Annick Lecoq

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Bassan Bin-Abbas

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Bernard Zabel

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Catherine Diatloff-Zito

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Cécile Julier

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Céline Haton

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Doris Taha

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Jacques L Michaud

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Jean-Jacques Robert

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1876-83

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scholarly article

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10.2337/DIABETES.53.7.1876

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7

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53

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Timothy Barrett

Valérie Senée

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2004-07-01T00:00:00Z

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8488564

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15220213

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