Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. (Q41919223)

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scientific article published on 14 September 2006

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

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English	Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.	scientific article published on 14 September 2006	Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

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scholarly article

1 reference

Europe PubMed Central

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30 December 2019

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

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30 December 2019

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3

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30 December 2019

author name string

M C Y de Wit

1

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30 December 2019

I F M de Coo

2

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30 December 2019

M Delépine

4

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30 December 2019

M H Lequin

5

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30 December 2019

I van de Laar

6

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30 December 2019

B J Sibbles

7

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30 December 2019

G J Bruining

8

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30 December 2019

G M S Mancini

9

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publication date

14 September 2006

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30 December 2019

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30 December 2019

7

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30 December 2019

4

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259-263

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30 December 2019

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

0 references

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

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A developmental and genetic classification for malformations of cortical development

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The large spectrum of eIF2B-related diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-006-0061-1

1 reference

Europe PubMed Central

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

Europe PubMed Central

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

30 December 2019

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