(Q37010417)

17 August 2017

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling (English)

1 reference

17 August 2017

1 reference

partial lipodystrophy

1 reference

6

1 reference

17 August 2017

Bente Johansson

7

0 references

Stefan Johansson

object named as

Stefan Johansson

3

0 references

Anders Molven

12

object named as

Anders Molven

1 reference

17 August 2017

9

Dagfinn Aarskog

1 reference

17 August 2017

11

C Ronald Kahn

1 reference

17 August 2017

10

Jørn V Sagen

1 reference

17 August 2017

13

Pål Rasmus Njølstad

1 reference

17 August 2017

Kishan Kumar Chudasama

1

1 reference

17 August 2017

Jonathon Winnay

2

1 reference

17 August 2017

Tor Claudi

4

1 reference

17 August 2017

Rainer König

5

1 reference

17 August 2017

Ju Rang Woo

8

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

8

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

17 August 2017

93

1 reference

17 August 2017

1

1 reference

17 August 2017

150-157

1 reference

Development of PI3K inhibitors: lessons learned from early clinical trials

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Exome sequencing and genetic testing for MODY.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

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=3710758

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Lipodystrophy: pathophysiology and advances in treatment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

A regulatory subunit of phosphoinositide 3-kinase increases the nuclear accumulation of X-box-binding protein-1 to modulate the unfolded protein response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

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=3710758

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=3710758

Acquired and inherited lipodystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Positive and Negative Roles of p85α and p85β Regulatory Subunits of Phosphoinositide 3-Kinase in Insulin Signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Essential role of insulin receptor substrate 1 (IRS-1) and IRS-2 in adipocyte 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=3710758

Positive and negative regulation of phosphoinositide 3-kinase-dependent signaling pathways by three different gene products of the p85alpha regulatory 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=3710758

Structure and function of SH2 domains.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Binding of a high affinity phosphotyrosyl peptide to the Src SH2 domain: crystal structures of the complexed and peptide-free forms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

SH2 domains recognize specific phosphopeptide sequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Malformation syndromes. A selected miscellany

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Genome wide analysis of pathogenic SH2 domain 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=3710758

Critical role of phosphoinositide 3-kinase cascade in adipogenesis of human mesenchymal stem cells

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Inhibition of the phosphatidylinositol 3'-kinase signaling pathway leads to decreased insulin-stimulated adiponectin secretion from 3T3-L1 adipocytes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Phosphoinositide 3-kinase is required for human adipocyte differentiation in culture.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710758

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23810379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

beta(3)-adrenergic stimulation differentially inhibits insulin signaling and decreases insulin-induced glucose uptake in brown adipocytes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23810379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.05.023

1 reference

17 August 2017

1 reference

17 August 2017

1 reference