Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

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Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

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Item

label

Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

@en

Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

@nl

prefLabel

Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

@en

Two missense mutations in SALL ...... a, and optic nerve hypoplasia.

@nl

P1476

Two missense mutations in SALL ...... ma, and optic nerve hypoplasia

@en

P2093

A Schneider

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A Slavotinek

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D Wu

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E Ullah

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E Wan

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L Madireddy

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M Ansar

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P Ling-Fung Tang

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P-Y Kwok

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R Lao

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P2860

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Okihiro syndrome is caused by SALL4 mutations

Spalt-like 4 promotes posterior neural fates via repression of pou5f3 family members in Xenopus

The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development

Sall4 interacts with Nanog and co-occupies Nanog genomic sites in embryonic stem cells

SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway

P304

371-375

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scholarly article

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10.1080/13816810.2016.1217550

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P433

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P478

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P577

2016-09-23T00:00:00Z

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P698

27661448

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P932

6238016

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