Discover Community Create You

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

MKRN3 mutations in familial central precocious puberty.

Hormone research in paediatrics - 1 Jan 2014

Schreiner Felix, Gohlke Bettina, Hamm Michaela, Korsch Eckhard, Woelfle Joachim

Abstract excerpt

Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3) have recently been reported to underlie familial cases of central precocious puberty (CPP). The imprinted MKRN3 gene is expressed only from the paternal allele, and mutations inherited from the father affect boys and girls equally, which is in contrast to the known female preponderance in idiopathic CPP. By screening a...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Codon, Terminator
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Genetic Diseases, Inborn

Share to Puberty, Precocious

Share to Ribonucleoproteins

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 25011910
DOI: 10.1159/000362815

Genes

MKRN3

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MKRN3 mutations in familial central precocious puberty.PMID 25011910Read ↗

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

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

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.Semantic proximity Read ↗

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

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.Semantic proximity Read ↗

Familial central precocious puberty: two novel MKRN3 mutations.Semantic proximity Read ↗

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

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

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.Semantic proximity Read ↗

Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty.Semantic proximity Read ↗

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.Semantic 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 ↗

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