PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy (Q37010421)

17 August 2017

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy (English)

1 reference

17 August 2017

1 reference

1 reference

1 reference

7

Martine Le Merrer

0 references

Jeanne Amiel

14

object named as

Jeanne Amiel

1 reference

17 August 2017

Pierre Bitoun

11

0 references

Delphine Héron

9

object named as

Delphine Héron

1 reference

17 August 2017

26

Laurence Faivre

1 reference

17 August 2017

Christel Thauvin-Robinet

1

object named as

Christel Thauvin-Robinet

1 reference

17 August 2017

Martine Auclair

2

1 reference

17 August 2017

Laurence Duplomb

3

1 reference

17 August 2017

Martine Caron-Debarle

4

1 reference

17 August 2017

Magali Avila

5

1 reference

17 August 2017

Judith St-Onge

6

1 reference

17 August 2017

Bernard Le Luyer

8

1 reference

17 August 2017

Michèle Mathieu-Dramard

10

1 reference

17 August 2017

Jean-Michel Petit

12

1 reference

17 August 2017

Sylvie Odent

13

1 reference

17 August 2017

Damien Picot

15

1 reference

17 August 2017

Virginie Carmignac

16

1 reference

17 August 2017

Julien Thevenon

17

1 reference

17 August 2017

Patrick Callier

18

1 reference

17 August 2017

Martine Laville

19

1 reference

17 August 2017

Yves Reznik

20

1 reference

17 August 2017

Cédric Fagour

21

1 reference

17 August 2017

Marie-Laure Nunes

22

1 reference

17 August 2017

Jacqueline Capeau

23

1 reference

17 August 2017

Olivier Lascols

24

1 reference

17 August 2017

Frédéric Huet

25

1 reference

17 August 2017

Corinne Vigouroux

27

1 reference

17 August 2017

Jean-Baptiste Rivière

28

1 reference

17 August 2017

language of work or name

English

0 references

publication date

27 June 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

93

1 reference

17 August 2017

141-149

1 reference

17 August 2017

1

1 reference

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter 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=3710759

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Loss of PKBβ/Akt2 predisposes mice to ovarian cyst formation and increases the severity of polycystic ovary formation in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Selective signaling by Akt1 controls osteoblast differentiation and osteoblast-mediated osteoclast development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

An activating mutation of AKT2 and human hypoglycemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Genetic Syndromes of Severe Insulin Resistance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

BMP4 loss-of-function mutations in developmental eye disorders including SHORT 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=3710759

The oral glucose tolerance test (OGTT) revisited

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Integrative genomics viewer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Akt2-mediated phosphorylation of Pitx2 controls Ccnd1 mRNA decay during muscle cell differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Critical role for the p110alpha phosphoinositide-3-OH kinase in growth and metabolic regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Critical nodes in signalling pathways: insights into insulin action

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Severe diabetes, age-dependent loss of adipose tissue, and mild growth deficiency in mice lacking Akt2/PKB beta

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Genotype-phenotype correlation in inherited severe insulin resistance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger 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=3710759

Amino acid difference formula to help explain protein evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Impaired insulin action in puberty. A contributing factor to poor glycemic control in adolescents with 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=3710759

Postbinding characterization of five naturally occurring mutations in the human insulin receptor gene: impaired insulin-stimulated c-jun expression and thymidine incorporation despite normal receptor autophosphorylation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Is SHORT syndrome another phenotypic variation of PITX2?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Human placental growth hormone increases expression of the p85 regulatory unit of phosphatidylinositol 3-kinase and triggers severe insulin resistance in skeletal muscle

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

SHORT syndrome: a case with high hyperopia and astigmatism.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Growth in full-term small-for-gestational-age infants: from birth to final height.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710759

Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85 alpha

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23810378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Establishment and culture of human skin fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23810378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Growth hormone (GH)-induced insulin resistance is rapidly reversible: an experimental study in GH-deficient adults

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23810378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.05.019

1 reference

17 August 2017

1 reference

17 August 2017

1 reference