Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationLATS1 phosphorylates forkhead L2 and regulates its transcriptional activity.Mutant Forkhead L2 (FOXL2) proteins associated with premature ovarian failure (POF) dimerize with wild-type FOXL2, leading to altered regulation of genes associated with granulosa cell differentiation.Minireview: roles of the forkhead transcription factor FOXL2 in granulosa cell biology and pathologyFOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeIdentification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteinsAn individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
P2860
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P2860
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@ast
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@en
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@nl
type
label
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@ast
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@en
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@nl
prefLabel
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@ast
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@en
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@nl
P2093
P2860
P356
P1476
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
@en
P2093
Muñetón CM
Ramírez-Castro JL
Ruiz-Linares A
Trujillo O
P2860
P356
10.1002/AJMG.10741
P407
P577
2002-11-01T00:00:00Z