Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
about
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450sccThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersNonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyFive novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyDAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseThe structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutationPartial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.Steroidogenic factor-1 (SF-1, NR5A1) and human diseaseSterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenalEvidence of adrenal failure in aging Dax1-deficient mice.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Adrenocortical stem and progenitor cells: implications for adrenocortical carcinomaAdrenocortical cells with stem/progenitor cell properties: recent advances.Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.Adrenocortical stem and progenitor cells: unifying model of two proposed origins.Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortPrimary adrenal insufficiency caused by a novel mutation in DAX1 geneSkewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Clinical manifestations of impaired GnRH neuron development and function.Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.In search of adrenocortical stem and progenitor cells46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.Targeting DAX-1 in embryonic stem cells and cancer.Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Steroidogenic factor-1 and human diseaseA novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.
P2860
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P2860
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@ast
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@en
type
label
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@ast
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@en
prefLabel
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@ast
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@en
P2093
P2860
P356
P1476
Analysis of DAX1 (NR0B1) and s ...... ailure: ten years' experience.
@en
P2093
Catherine J Owen
Gokhan Ozisik
J Larry Jameson
Wen-Xia Gu
P2860
P304
P356
10.1210/JC.2006-0603
P407
P577
2006-05-09T00:00:00Z