The adrenal (Q35946579)

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Language	Label	Description	Also known as
English	The adrenal	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 August 2017

1 reference

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

2

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author name string

Lin Lin

1

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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

1 reference

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

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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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Molecular genetic and endocrine mechanisms of hair growth

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Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

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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

1 reference

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

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

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

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

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Mutant WD-repeat protein in triple-A syndrome

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

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New insights into the molecular basis of the triple A syndrome

1 reference

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

1 reference

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

1 reference

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

1 reference

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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

1 reference

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

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.

1 reference

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

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21 January 2018

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

1 reference

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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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Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

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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.

1 reference

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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

1 reference

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21 January 2018

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

1 reference

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

1 reference

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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

1 reference

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Congenital adrenal hyperplasia

1 reference

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Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

1 reference

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Hereditary Defect in Biosynthesis of Aldosterone: Aldosterone Synthase Deficiency 1964–19971

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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

1 reference

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

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Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity

1 reference

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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

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Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

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Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy

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Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase

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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

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Gene profiling of human fetal and adult adrenals

1 reference

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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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