Mutations in PIK3R1 cause SHORT syndrome (Q37010402)

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4 March 2020

title

Mutations in PIK3R1 cause SHORT syndrome (English)

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Jeremy Schwartzentruber

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Lina Basel-Vanagaite

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Karen Temple

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Rodney D. Gilbert

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Mark O'Driscoll

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A. Micheil Innes

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Kym M Boycott

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Jacek Majewski

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FORGE Canada Consortium

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Chandree L Beaulieu

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Dennis E Bulman

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author name string

David A Dyment

1

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Amanda C Smith

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Diana Alcantara

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Cynthia J Curry

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William Reardon

8

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Sahar Mansour

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Mushfequr R Haq

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Ordan J Lehmann

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Megan R Vanstone

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language of work or name

English

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publication date

27 June 2013

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American Journal of Human Genetics

4 March 2020

published in

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volume

93

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page(s)

158-166

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issue

1

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4 March 2020

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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=3710754

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

29 September 2017

1 reference

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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=3710754

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor 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=3710754

Mutations in NOTCH2 in families with Hajdu-Cheney 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=3710754

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

29 September 2017

1 reference

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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=3710754

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

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Critical nodes in signalling pathways: insights into insulin action

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Increased insulin sensitivity and hypoglycaemia in mice lacking the p85 alpha subunit of phosphoinositide 3-kinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Phosphoinositide 3-kinases: a conserved family of signal transducers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

SHORT syndrome and 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=3710754

The SHORT syndrome: further delineation and natural history

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

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=3710754

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=3710754

Mutations in TMEM231 cause Joubert syndrome in French Canadians

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Is SHORT syndrome another phenotypic variation of PITX2?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

4 September 2018

1 reference

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

4 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

1 reference

12 December 2020

SHORT syndrome: a new case with probable autosomal dominant inheritance.

1 reference

12 December 2020

Rieger anomaly and congenital glaucoma in the SHORT syndrome

1 reference

12 December 2020

SHORT syndrome: distinctive radiographic features

1 reference

12 December 2020

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2013.06.005

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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4 March 2020

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