Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases. (Q54329371)

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title

Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases (English)

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Wolcott-Rallison syndrome

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based on heuristic

inferred from title

permanent neonatal diabetes mellitus

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5

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author name string

Sophie Collardeau-Frachon

1

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Alexandre Vasiljevic

2

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Anne Jouvet

3

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Raymonde Bouvier

4

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Marc Nicolino

6

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publication date

18 August 2014

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volume

16

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issue

7

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page(s)

510-520

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

12 March 2020

cites work

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Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

21 January 2018

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Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

21 January 2018

1 reference

Wolcott-Rallison syndrome

21 January 2018

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EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

Endoplasmic reticulum stress and the development of diabetes: a review

21 January 2018

1 reference

When translation meets metabolism: multiple links to diabetes

21 January 2018

1 reference

Diabetes as a disease of endoplasmic reticulum stress

21 January 2018

1 reference

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

21 January 2018

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Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome

21 January 2018

1 reference

Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control

21 January 2018

1 reference

Translational control is required for the unfolded protein response and in vivo glucose homeostasis

21 January 2018

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Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

21 January 2018

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The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

21 January 2018

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PERK eIF2alpha kinase regulates neonatal growth by controlling the expression of circulating insulin-like growth factor-I derived from the liver

21 January 2018

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Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses

21 January 2018

1 reference

PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice

21 January 2018

1 reference

PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis

21 January 2018

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PERK is essential for neonatal skeletal development to regulate osteoblast proliferation and differentiation

21 January 2018

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Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation

21 January 2018

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PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway

21 January 2018

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Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome

21 January 2018

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The contribution of endoplasmic reticulum stress to liver diseases

21 January 2018

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21 January 2018

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Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/PEDI.12201

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12 March 2020

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