• Publications
  • Influence
The GPR54 Gene as a Regulator of Puberty
Background Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secretedExpand
  • 1,550
  • 82
  • PDF
A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.
Kisspeptins are products of the KiSS-1 gene, which bind to a G protein-coupled receptor known as GPR54. Mutations or targeted disruptions in the GPR54 gene cause hypogonadotropic hypogonadism inExpand
  • 952
  • 66
  • PDF
Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.
To further study the role of GPR54 signaling in the onset of primate puberty, we used the monkey to examine the ability of kisspeptin-10 to elicit the release of gonadotropin-releasing hormone (GnRH)Expand
  • 753
  • 46
  • PDF
The GPR54 gene as a regulator of puberty.
BACKGROUND Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secretedExpand
  • 642
  • 39
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
The G protein-coupled receptor Gpr54 and its ligand metastin (derived from the Kiss1 gene product kisspeptin) are key gatekeepers of sexual maturation. Gpr54 knockout mice demonstrateExpand
  • 415
  • 26
A GPR54-activating mutation in a patient with central precocious puberty.
Gonadotropin-dependent, or central, precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. In girls, this condition is most often idiopathic. Recently, a GExpand
  • 422
  • 21
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
BACKGROUND The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive. METHODS We performed whole-exome sequencing in aExpand
  • 154
  • 15
  • PDF
Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.
Human genetics indicate that kisspeptin and neurokinin B (NKB) signaling are necessary for generating pulsatile LH release and therefore for initiation of puberty and maintaining gonadal function. InExpand
  • 206
  • 12
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Mutations in the GnRH receptor (GNRHR) have been described as a cause of reproductive failure in a subset of patients with idiopathic hypogonadotropic hypogonadism (IHH). Given the apparent rarity ofExpand
  • 213
  • 12
  • PDF
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
I. Introduction II. Ontogeny of Normal GnRH Secretion A. Fetal life B. Neonatal and childhood periods C. Puberty D. Adulthood III. Historical Perspective IV. Clinical Presentation of GnRH DeficiencyExpand
  • 351
  • 11