Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. - Wikidata - wikimedia - TriplyDB

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

http://www.wikidata.org/entity/Q34465808

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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders DAX1: Increasing complexity in the roles of this novel nuclear receptor Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Battle of the sexes: new insights into genetic pathways of gonadal development Evidence of adrenal failure in aging Dax1-deficient mice.Inherited adrenal hypoplasia: not just for kids!Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.Identification of Copy Number Variations in Xiang and Kele Pigs.The adrenal.Adrenocortical stem and progenitor cells: unifying model of two proposed origins.Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues.In search of adrenocortical stem and progenitor cells Adrenocortical growth and cancer.Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita Aspectos Moleculares da Determinação e Diferenciação Sexual Role of Orphan Nuclear Receptor DAX-1/NR0B1 in Development, Physiology, and Disease

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P2860

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

http://www.wikidata.org/entity/Q34465808

description

2001 nî lūn-bûn

@nan

2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@ast

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@en

Mutations in NR0B1

@nl

type

label

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@ast

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@en

Mutations in NR0B1

@nl

prefLabel

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@ast

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@en

Mutations in NR0B1

@nl

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Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

@en

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McCabe ER

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

Phelan JK

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

P2860

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA

DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis

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

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids

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

Crystal structure of the RAR-gamma ligand-binding domain bound to all-trans retinoic acid

Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-alpha

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472-487

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scholarly article

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10.1002/HUMU.1225

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6

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18

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2001-12-01T00:00:00Z

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11748841

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