Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

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SOX2 is sequentially required for progenitor proliferation and lineage specification in the developing pituitary Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

P2860

Q37120477-58A1AE89-C222-43DF-8BAB-64CCA8E12A7B Q48313441-2AEC59D3-21B2-41EC-B1FB-8B5FB16B1448

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Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

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http://www.wikidata.org/entity/Q45343810

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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name

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@en

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@nl

type

Item

label

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@en

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@nl

prefLabel

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@en

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

@nl

P1476

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities

@en

P2093

Akira Endo

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Hiroshi Wada

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

Junichi Suzuki

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

Maki Fukami

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Noriyuki Azuma

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Reiko Saito

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

Shinichiro Sano

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

Shun Soneda

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

Sumito Dateki

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

Tatsuhiko Urakami

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P2860

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

A dominant-negative form of mouse SOX2 induces trophectoderm differentiation and progressive polyploidy in mouse embryonic stem cells

Genetic regulation of pituitary gland development in human and mouse

Mutations in SOX2 cause anophthalmia.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

SOX2 regulates the hypothalamic-pituitary axis at multiple levels

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.

P2888

jhg.2014.34

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353-356

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scholarly article

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10.1038/JHG.2014.34

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Koji Muroya

Tsutomu Ogata

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2014-05-08T00:00:00Z

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1037191570

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24804704

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Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

about

P2860

P2860

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

description

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type

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698