(Q39391293)

11 September 2017

title

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome (English)

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11 September 2017

André F Reis

1

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11 September 2017

Caroline Kannengiesser

2

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11 September 2017

Farida Jennane

3

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11 September 2017

Thais Della Manna

4

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11 September 2017

Nadir Cheurfa

5

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11 September 2017

Claire Oudin

6

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11 September 2017

Roberta Diaz Savoldelli

7

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11 September 2017

Carolina Oliveira

8

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11 September 2017

Bernard Grandchamp

9

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11 September 2017

Fernando Kok

10

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11 September 2017

Gilberto Velho

11

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11 September 2017

publication date

7 September 2010

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11 September 2017

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11 September 2017

volume

12

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11 September 2017

issue

3 Pt 1

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11 September 2017

page(s)

187-191

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Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

11 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

Perk is essential for translational regulation and cell survival during the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

ER stress and the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

Endoplasmic reticulum stress: cell life and death decisions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

The nonthyroidal illness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

The four most common pediatric immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2010.00679.X

10.1111/J.1399-5448.2010.00679.X

21 January 2018

Identifiers

DOI

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11 September 2017

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