(Q41919223)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972080%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

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

1 reference

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30 December 2019

0 references

3

1 reference

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30 December 2019

author name string

M C Y de Wit

1

1 reference

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30 December 2019

I F M de Coo

2

1 reference

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30 December 2019

M Delépine

4

1 reference

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30 December 2019

M H Lequin

5

1 reference

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30 December 2019

I van de Laar

6

1 reference

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30 December 2019

B J Sibbles

7

1 reference

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30 December 2019

G J Bruining

8

1 reference

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30 December 2019

G M S Mancini

9

1 reference

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30 December 2019

publication date

14 September 2006

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

7

1 reference

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30 December 2019

issue

4

1 reference

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30 December 2019

page(s)

259-263

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https://scigraph.springernature.com/pub.10.1007/s10048-006-0061-1

30 December 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.

1 reference

12 December 2020

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature

1 reference

12 December 2020

Phosphorylation of the alpha subunit of translation initiation factor-2 by PKR mediates protein synthesis inhibition in the mouse brain during status epilepticus

1 reference

12 December 2020

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

1 reference

12 December 2020

A developmental and genetic classification for malformations of cortical development

1 reference

12 December 2020

Uncharged tRNA and sensing of amino acid deficiency in mammalian piriform cortex.

1 reference

12 December 2020

PERK is responsible for the increased phosphorylation of eIF2alpha and the severe inhibition of protein synthesis after transient global brain ischemia.

1 reference

12 December 2020

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

1 reference

12 December 2020

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

1 reference

12 December 2020

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

1 reference

12 December 2020

The large spectrum of eIF2B-related diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10048-006-0061-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972080%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference