(Q35946579)

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The adrenal

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 August 2017

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Europe PubMed Central

The adrenal (English)

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Europe PubMed Central

PubMed publication ID

11 August 2017

John C. Achermann

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John C Achermann

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author name string

Lin Lin

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Europe PubMed Central

PubMed publication ID

11 August 2017

publication date

1 January 2004

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Europe PubMed Central

PubMed publication ID

11 August 2017

Hormone Research

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Europe PubMed Central

PubMed publication ID

11 August 2017

62 Suppl 3

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Europe PubMed Central

PubMed publication ID

11 August 2017

22-29

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Europe PubMed Central

PubMed publication ID

11 August 2017

Dehydroepiandrosterone replacement for patients with adrenal insufficiency

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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

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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

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PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency

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

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A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins

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

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

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

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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

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

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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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X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients

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Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure.

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Positional cloning of the APECED gene

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Smith-Lemli-Opitz syndrome and the DHCR7 gene

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Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

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Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency

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Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Steroid 17alpha-hydroxylase deficiency--not rare everywhere.

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Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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Congenital adrenal hyperplasia.

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Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997

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Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking

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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

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Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase

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Gene profiling of human fetal and adult adrenals

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Identifiers

10.1159/000080495

1 reference

Europe PubMed Central

PubMed publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 August 2017

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