Article

Predicting MKRN3 and DLK1 Variants Using Serum Levels in Precocious Puberty

2025-05-19

Abstract excerpt

<title>Abstract</title> <p>Purpose Loss-of-function alterations in <italic>MKRN3</italic> and <italic>DLK1</italic> are linked to familial central precocious puberty (CPP) and may lower serum protein levels. This study assessed whether serum MKRN3 and DLK1 levels indicate CPP-related genetic variants. Methods Twenty-six girls with CPP—11 treated (Group 1) and 15 untreated (Group 2)—and 26 healthy controls were...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e659412a-b587-5a14-9607-fea080b5f9a9
DOI: 10.21203/rs.3.rs-6646118/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Predicting MKRN3 and DLK1 Variants Using Serum Levels in Precocious PubertyDOI 10.21203/rs.3.rs-6646118/v1Read

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

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.Semantic proximity Read

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

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

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

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

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

Genotype-phenotype associations of MKRN3 variants in children with central precocious puberty: a single-center study from Uzbekistan.Semantic proximity Read

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 GeneSemantic proximity Read