Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes (Q34583590)

3 August 2017

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes (English)

1 reference

3 August 2017

0 references

1 reference

13

David Altshuler

1 reference

3 August 2017

7

Stacey B Gabriel

1 reference

3 August 2017

12

Evan D Rosen

1 reference

3 August 2017

Mohammad Kamran Ikram

1 reference

ORCID Public Data File 2021

author name string

Amit R Majithia

1

1 reference

3 August 2017

Jason Flannick

2

1 reference

3 August 2017

Peter Shahinian

3

1 reference

3 August 2017

Michael Guo

4

1 reference

3 August 2017

Mark-Anthony Bray

5

1 reference

3 August 2017

Pierre Fontanillas

6

1 reference

3 August 2017

GoT2D Consortium

8

1 reference

3 August 2017

NHGRI JHS/FHS Allelic Spectrum Project

9

1 reference

3 August 2017

SIGMA T2D Consortium

10

1 reference

3 August 2017

T2D-GENES Consortium

11

1 reference

3 August 2017

language of work or name

English

0 references

publication date

25 August 2014

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

1 reference

3 August 2017

111

1 reference

3 August 2017

36

1 reference

3 August 2017

13127-13132

1 reference

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Inferring causality and functional significance of human coding DNA variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

A high-resolution map of human evolutionary constraint using 29 mammals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

A map of human genome variation from population-scale sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Functional implications of genetic variation in human PPARgamma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Genotype score in addition to common risk factors for prediction of type 2 diabetes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

CellProfiler: image analysis software for identifying and quantifying cell phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

The peroxisome proliferator-activated receptor-gamma2 Pro12Ala polymorphism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4246964

Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1410428111

Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1410428111

21 January 2018

Identifiers

DOI

10.1073/PNAS.1410428111

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference