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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
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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
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Loss of 5-Hydroxymethylcytosine Is an Epigenetic Hallmark of Melanoma
DNA methylation at the 5 position of cytosine (5-mC) is a key epigenetic mark that is critical for various biological and pathological processes. 5-mC can be converted to 5-hydroxymethylcytosineExpand
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Central precocious puberty caused by mutations in the imprinted gene MKRN3.
BACKGROUND The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic-pituitary-gonadal axis resultsExpand
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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
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Human LSD2/KDM1b/AOF1 regulates gene transcription by modulating intragenic H3K4me2 methylation.
Dynamic histone H3K4 methylation is an important epigenetic component of transcriptional regulation. However, most of our current understanding of this histone mark is confined to the regulation ofExpand
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Studies of gonadotropin-releasing hormone (GnRH) action using GnRH receptor-expressing pituitary cell lines.
I. Introduction II. GnRHR Structure Analysis III. Studies of GnRH Action in αT3-1 Cells A. Derivation of αT3-1 cells B. Characterization of αT3-1 cells C. GnRH binding D. GnRHR regulation 1.Expand
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The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism (IHH) has an incidence of 1–10 cases per 100,000 births. About 60% of patients with IHH present with associated anosmia, also known as Kallmann syndrome,Expand
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Mutations of the KISS1 gene in disorders of puberty.
CONTEXT Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R) cause isolated hypogonadotropicExpand
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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
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