Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.

Hormone research in paediatrics - 1 Jan 2017

Grandone Anna, Capristo Carlo, Cirillo Grazia, Sasso Marcella, Umano Giuseppina Rosaria, Mariani Michela, Miraglia Del Giudice Emanuele, Perrone Laura

Abstract excerpt

BACKGROUND: Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been associated with age at menarche. We investigated the prevalence of mutations in MKRN3, DLK1, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium-Binding Proteins
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Potassium Channels, Tandem Pore Domain

Share to Puberty, Precocious

Share to Ribonucleoproteins

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 28672280
DOI: 10.1159/000477441

Genes

MKRN3
DLK1
KCNK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.PMID 28672280Read ↗

Investigation of MKRN3 Mutation in Patients with Familial Central Precocious PubertySemantic proximity Read ↗

Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.Semantic proximity Read ↗

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.Semantic proximity Read ↗

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.Semantic proximity Read ↗

MKRN3 mutations in familial central precocious puberty.Semantic proximity Read ↗

Predicting MKRN3 and DLK1 Variants Using Serum Levels in Precocious PubertySemantic proximity Read ↗

Clinical and Genetic Characterization of Familial Central Precocious Puberty.Semantic proximity Read ↗

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.Semantic proximity Read ↗

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.Semantic proximity Read ↗

Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 MutationsSemantic proximity Read ↗

Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.Semantic proximity Read ↗

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.