(Q36835117)

16 August 2017

Phenotypic characteristics of early Wolfram syndrome (English)

1 reference

16 August 2017

1 reference

Bess A Marshall

1

1 reference

16 August 2017

M Alan Permutt

2

1 reference

16 August 2017

Alexander R Paciorkowski

3

1 reference

16 August 2017

James Hoekel

4

1 reference

16 August 2017

Roanne Karzon

5

1 reference

16 August 2017

Jon Wasson

6

1 reference

16 August 2017

Amy Viehover

7

1 reference

16 August 2017

Neil H White

8

1 reference

16 August 2017

Joshua S Shimony

9

1 reference

16 August 2017

Linda Manwaring

10

1 reference

16 August 2017

Paul Austin

11

1 reference

16 August 2017

Timothy E Hullar

12

1 reference

16 August 2017

Tamara Hershey

13

1 reference

16 August 2017

Washington University Wolfram Study Group

14

1 reference

16 August 2017

27 April 2013

1 reference

Orphanet Journal of Rare Diseases

16 August 2017

1 reference

16 August 2017

8

1 reference

16 August 2017

64

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-64

16 August 2017

0 references

cites work

Early presentation of gait impairment in Wolfram Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Reliability and validity of the Wolfram Unified Rating Scale (WURS).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Early brain vulnerability in Wolfram syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Balance impairment in individuals with Wolfram syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Restoring endoplasmic reticulum function by chemical chaperones: an emerging therapeutic approach for metabolic diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Diabetes as a disease of endoplasmic reticulum stress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

ER stress in pancreatic beta cells: the thin red line between adaptation and failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

The role for endoplasmic reticulum stress in diabetes mellitus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Islet beta cell failure in type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Olfactory Testing as an Aid in the Diagnosis of Parkinson's Disease: Development of Optimal Discrimination Criteria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Common variants in WFS1 confer risk of type 2 diabetes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Wolfram (DIDMOAD) syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3651298

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23981289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23981289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23981289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-64

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference

16 August 2017

PubMed publication ID

23981289

1 reference