(Q34148057)

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Wolcott-Rallison syndrome

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scholarly article

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Europe PubMed Central

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15 January 2020

1 reference

1 reference

16 December 2020

Wolcott-Rallison syndrome (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

type-1 diabetes

1 reference

30 June 2019

osteochondrodysplasia

2 references

30 June 2019

16 December 2020

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Marc Nicolino

2

1 reference

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15 January 2020

publication date

4 November 2010

7 references

14 March 2019

13 March 2019

24 March 2019

22 April 2019

30 June 2019

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

16 December 2020

Orphanet Journal of Rare Diseases

7 references

14 March 2019

13 March 2019

24 March 2019

22 April 2019

30 June 2019

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

16 December 2020

5

1 reference

Europe PubMed Central

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15 January 2020

29

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15 January 2020

copyright license

Creative Commons Attribution 2.0 Generic

6 references

Europe PubMed Central

14 March 2019

Europe PubMed Central

13 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

16 December 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1750-1172-5-29

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Endoplasmic reticulum stress and the inflammatory basis of metabolic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Glucagon-like peptide-1 agonists protect pancreatic beta-cells from lipotoxic endoplasmic reticulum stress through upregulation of BiP and JunB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Endoplasmic reticulum stress in beta-cells and development of diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

The role for endoplasmic reticulum stress in diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Translational control and the unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

The nonthyroidal illness syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Endoplasmic reticulum stress and the development of diabetes: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

The rising global burden of diabetes and its complications: estimates and projections to the year 2010.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

5 July 2018

Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991281

28 October 2018

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Permanent diabetes mellitus in the first year of life

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wolcott-Rallison syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autopsy findings in the Wolcott-Rallison syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

1 reference

https://pubmed.ncbi.nlm.nih.gov/21050479

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-5-29

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21050479%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

ResearchGate publication ID

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