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Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca sign...

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca sign...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2647467562

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling

About this item

Full title

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2022-04

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

Recurrent missense mutations of the PIK3CA oncogene are among the most frequent drivers of human cancers. These often lead to constitutive activation of its product p110α, a phosphatidylinositol 3-kinase (PI3K) catalytic subunit. In addition to causing a range of rare and common cancers, the H1047R mutation is also found in affected tissues of a di...

Alternative Titles

Full title

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2647467562

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2647467562

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2022.04.05.487130