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

3 August 2017

title

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

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3 August 2017

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13

David Altshuler

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3 August 2017

7

Stacey B Gabriel

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3 August 2017

12

Evan D Rosen

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3 August 2017

Mohammad Kamran Ikram

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ORCID Public Data File 2021

author name string

Amit R Majithia

1

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3 August 2017

Jason Flannick

2

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3 August 2017

Peter Shahinian

3

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3 August 2017

Michael Guo

4

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3 August 2017

Mark-Anthony Bray

5

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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

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3 August 2017

language of work or name

English

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publication date

25 August 2014

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

3 August 2017

published in

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3 August 2017

volume

111

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3 August 2017

issue

36

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3 August 2017

page(s)

13127-13132

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

3 August 2017

cites work

1 reference

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Inferring causality and functional significance of human coding DNA variants

7 July 2018

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

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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

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

7 July 2018

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A map of human genome variation from population-scale sequencing

7 July 2018

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Functional implications of genetic variation in human PPARgamma

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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CellProfiler: image analysis software for identifying and quantifying cell phenotypes

7 July 2018

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

7 July 2018

1 reference

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The peroxisome proliferator-activated receptor-gamma2 Pro12Ala polymorphism

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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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

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3 August 2017

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