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Article

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Clinical endocrinology - 1 Jan 2016

Neocleous Vassos, Shammas Christos, Phelan Marie M, Nicolaou Stella, Phylactou Leonidas A, Skordis Nicos

Abstract excerpt

BACKGROUND: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or from loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency. OBJECTIVE: To explore the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26173472
DOI: 10.1111/cen.12854

Genes

MKRN3
KISS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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