Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

about

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

P2860

Q37248504-AE50D710-B654-47A3-9578-34A0F944B730 Q42348468-598ECDD5-9398-4731-AC55-9016CFABFEA7

P2860

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Item

http://www.wikidata.org/entity/Q36576691

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@ast

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@en

type

Item

label

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@ast

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@en

prefLabel

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@ast

Identification and Characteriz ...... -Related Overgrowth Spectrum".

@en

P1476

Identification and Characteriz ...... A-Related Overgrowth Spectrum"

@en

P2093

Diana Alcantara

http://www.w3.org/2001/XMLSchema#string

Evelin Schrock

http://www.w3.org/2001/XMLSchema#string

Ghayda M Mirzaa

http://www.w3.org/2001/XMLSchema#string

P2860

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

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

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

PIK3CA-Related Segmental Overgrowth

Reduced expression of the murine p85alpha subunit of phosphoinositide 3-kinase improves insulin signaling and ameliorates diabetes

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

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Rare cancer-specific mutations in PIK3CA show gain of function

Oncogenic mutations mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110α (PIK3CA).

P304

242-245

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.22933

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

P577

2015-12-15T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

26593112

http://www.w3.org/2001/XMLSchema#string

P932

4752430

http://www.w3.org/2001/XMLSchema#string

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

about

P2860

P2860

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932