ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

Item

http://www.wikidata.org/entity/Q35591780

description

2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

2004年论文

@zh

2004年论文

@zh-cn

name

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@ast

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@en

type

Item

label

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@ast

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@en

prefLabel

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@ast

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@en

P1476

ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

@en

P2093

H Fujiwara

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H Ohtsuki

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S Hasebe

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

T Matsuo

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

T Yasuda

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

Y Jiang

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P2860

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

The homeodomain protein Arix promotes protein kinase A-dependent activation of the dopamine beta-hydroxylase promoter through multiple elements and interaction with the coactivator cAMP-response element-binding protein-binding protein

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Sp proteins and Phox2b regulate the expression of the human Phox2a gene

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a

A homeodomain protein selectively expressed in noradrenergic tissue regulates transcription of neurotransmitter biosynthetic genes

Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis

Translational control: the cancer connection.

P304

263-267

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P31

scholarly article

P356

10.1136/BJO.2003.021527

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P407

English

P433

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

P478

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

P577

2004-02-01T00:00:00Z

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P698

14736788

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P921

birth defect

P932

1772011

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