[HTML][HTML] DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

JP Suntharalingham, F Buonocore, AJ Duncan… - Best practice & research …, 2015 - Elsevier
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a
key role in human adrenal and reproductive development. Loss of DAX-1 function is …

Origin, development and regulation of human Leydig cells

K Svechnikov, L Landreh, J Weisser, G Izzo… - Hormone research in …, 2010 - karger.com
Sex steroids are crucial regulators of sexual differentiation and the proper development of
secondary sex characteristics and patterns of sexual behavior. Since Leydig cells are the …

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years' Experience

L Lin, WX Gu, G Ozisik, WS To, CJ Owen… - The Journal of …, 2006 - academic.oup.com
Context: Primary adrenal failure is a life-threatening condition that can be caused by a range
of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear …

The foetal Leydig cell–differentiation, function and regulation

PJ O'shaughnessy, PJ Baker… - International journal of …, 2006 - Wiley Online Library
The foetal Leydig cell population arises shortly after testicular differentiation at around 12.5
dpc in the mouse and 6 weeks in the human. These cells function, primarily, to produce …

[HTML][HTML] Update on the etiology, diagnosis and therapeutic management of sexual precocity

VN Brito, AC Latronico, IJP Arnhold… - Arquivos Brasileiros de …, 2008 - SciELO Brasil
Precocious puberty is defined as the development of secondary sexual characteristics
before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious …

Puberty and its disorders

PA Lee, CP Houk - Pediatric endocrinology, 2007 - taylorfrancis.com
Puberty is the stage of growth leading to sexual maturity and reproductive capacity. In girls,
the initial physical changes are breast development; in boys, testicular growth—both …

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

F Roucher-Boulez, D Mallet-Motak… - European journal of …, 2016 - academic.oup.com
Objective Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes
recently discovered in familial glucocorticoid deficiencies (FGD), is involved in reactive …

Adrenocorticotropic hormone directly stimulates testosterone production by the fetal and neonatal mouse testis

PJ O'shaughnessy, LM Fleming, G Jackson… - …, 2003 - academic.oup.com
Adult Leydig cell steroidogenesis is dependent on LH but fetal Leydig cells can function
independently of gonadotropin stimulation. To identify factors that may be involved in …

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

G Ozisik, G Mantovani, JC Achermann… - The Journal of …, 2003 - academic.oup.com
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC)
critical region on the X chromosome gene 1; NR0B1] cause X-linked AHC, a disease …

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

U Jadhav, RM Harris, JL Jameson - Molecular and cellular endocrinology, 2011 - Elsevier
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X,
gene 1; also known as NROB1, nuclear receptor subfamily 0, group B, member 1) encodes …