Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

Recent years have seen significant advances in our understanding of the development and
function of the adrenal gland together with further insights into the physiologic and …

Continuous efforts have been devoted to unraveling the biophysiology and development of
the human fetal adrenal cortex, which is structurally and functionally unique from other …

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 …

Background The genetic causes of nonsyndromic ovarian insufficiency are largely unknown.
A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional …

The liver receptor homolog-1 (LRH-1; NR5A2) and steroidogenic factor-1 (SF-1; NR5A1) are
two orphan members of the Ftz-F1 subfamily of nuclear receptors. LRH-1 is expressed in …

Whereas it is now more than 150 yr since T. Addison first described the clinical and
pathological features of adrenal failure, the disease remains underdiagnosed, leading to …

Heritable diseases are caused by germ-line mutations that, despite tissuewide presence,
often lead to tissue-specific pathology. Here, we make a systematic analysis of the link …

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to
monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly …

The orphan nuclear receptor steroidogenic factor 1 (SF-1, also called Ad4BP and officially
designated NR5A1) has emerged as an essential regulator of endocrine development and …