A human immunodeficiency caused by mutations in the PIK3R1 gene (Q34129000)

31 July 2017

title

A human immunodeficiency caused by mutations in the PIK3R1 gene. (English)

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8

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10

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Marina Cavazzana

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Christine Bôle-Feysot

5

Christine Bole-Feysot

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Patrick Nitschké

6

Patrick Nitschke

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Lucie Heurtier

Lucie Heurtier

2

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Anne Durandy

Anne Durandy

9

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Marie-Céline Deau

1

Marie-Céline Deau

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3

Pierre Frange

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11

Sven Kracker

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4

Felipe Suarez

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Patrick Nitschke

6

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language of work or name

English

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publication date

18 August 2014

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Journal of Clinical Investigation

31 July 2017

published in

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volume

124

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31 July 2017

issue

9

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31 July 2017

page(s)

3923-3928

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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

PIK3R1 (p85α) is somatically mutated at high frequency in primary endometrial cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Direct positive regulation of PTEN by the p85 subunit of phosphatidylinositol 3-kinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

PI3 kinase signals BCR-dependent mature B cell survival

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

A frequent kinase domain mutation that changes the interaction between PI3K and the membrane

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Phosphoinositide 3-kinase: diverse roles in immune cell activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

PI3K in lymphocyte development, differentiation and activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Functional differences between memory and naive CD8 T cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

Regulation of class-switch recombination and plasma cell differentiation by phosphatidylinositol 3-kinase signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153704

28 October 2018

Identifiers

DOI

10.1172/JCI75746

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31 July 2017

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31 July 2017

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