(Q35754297)

10 August 2017

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title

Inherited adrenal hypoplasia: not just for kids! (English)

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10 August 2017

John C Achermann

2

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author name string

Lin Lin

series ordinal

1

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10 August 2017

publication date

1 May 2004

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10 August 2017

published in

Clinical Endocrinology

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10 August 2017

volume

60

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10 August 2017

issue

5

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10 August 2017

page(s)

529-537

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Fertility and infertility: genetic contributions from the hypothalamic-pituitary-gonadal axis

10 August 2017

cites work

1 reference

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Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

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Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

21 January 2018

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Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

21 January 2018

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The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome

21 January 2018

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

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"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

21 January 2018

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Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype

21 January 2018

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Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay

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Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

21 January 2018

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New insights into the molecular basis of the triple A syndrome

21 January 2018

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A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

21 January 2018

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

21 January 2018

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21 January 2018

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21 January 2018

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Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

21 January 2018

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21 January 2018

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Dax1 regulates testis cord organization during gonadal differentiation

21 January 2018

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Dax1 is required for testis determination

21 January 2018

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Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene

21 January 2018

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

21 January 2018

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

21 January 2018

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SF1 in the development of the adrenal gland and gonads.

21 January 2018

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An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

21 January 2018

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Tpit determines alternate fates during pituitary cell differentiation

21 January 2018

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Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation

21 January 2018

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21 January 2018

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Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Role of Ahch in gonadal development and gametogenesis

21 January 2018

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

21 January 2018

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

21 January 2018

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10.1111/J.1365-2265.2004.01988.X

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference