Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

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Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

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P2860

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

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http://www.wikidata.org/entity/Q43247398

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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name

Identification of a novel muta ...... adrenal hypoplasia congenita.

@en

Identification of a novel muta ...... adrenal hypoplasia congenita.

@nl

type

Item

label

Identification of a novel muta ...... adrenal hypoplasia congenita.

@en

Identification of a novel muta ...... adrenal hypoplasia congenita.

@nl

prefLabel

Identification of a novel muta ...... adrenal hypoplasia congenita.

@en

Identification of a novel muta ...... adrenal hypoplasia congenita.

@nl

P1476

Identification of a novel muta ...... adrenal hypoplasia congenita.

@en

P2093

Isabela Leite Pezzuti

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Ivani Novato Silva

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

Rafael Machado Mantovani

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

Vera Maria Alves Dias

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

P2860

Molecular mechanisms of DAX1 action

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers

Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

DAX1: Increasing complexity in the roles of this novel nuclear receptor

Phenotypic spectrum of mutations in DAX-1 and SF-1

DAX1 origin, function, and novel role

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

P304

771-776

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scholarly article

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10.1590/S0004-27302009000600013

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2009-08-01T00:00:00Z

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38071340

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19893922

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P921

sibling

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

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P2860

P2860

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

description

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P2093

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