Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.F417I
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MKRN3

NM_005664.4:p.F417I

Associated Papers

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

Jin YY et al.

World Journal of Pediatrics : Wjp, 2026

Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.

Canton APM et al.

Journal of the Endocrine Society, 2025

Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report.

Wang J et al.

Frontiers in Endocrinology, 2024

Genetic causes of central precocious puberty.

Tajima T

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

Seraphim CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Makorin RING finger protein 3 and central precocious puberty.

Maione L et al.

Current Opinion in Endocrine and Metabolic Research, 2020

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Liu M et al.

Medicine, 2020

MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons.

Abreu AP et al.

The Journal of Clinical Investigation, 2020

MKRN3 regulates the epigenetic switch of mammalian puberty via ubiquitination of MBD3.

Li C et al.

National Science Review, 2020

Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog.

Ramos CO et al.

Neuroendocrinology, 2020

MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis.

Valadares LP et al.

Journal of the Endocrine Society, 2019

Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.

Simsek E et al.

Hormone Research in Paediatrics, 2017

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.

Ortiz-Cabrera NV et al.

Hormone Research in Paediatrics, 2017

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Simon D et al.

European Journal of Endocrinology, 2016

Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.

Macedo DB et al.

Endocrine Development, 2016

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

Känsäkoski J et al.

Pediatric Research, 2015

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

Abreu AP et al.

Journal of Molecular Endocrinology, 2015

A novel MKRN3 missense mutation causing familial precocious puberty.

de Vries L et al.

Human Reproduction (oxford, England), 2014

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

Macedo DB et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

New causes of central precocious puberty: the role of genetic factors.

Bulcao Macedo D et al.

Neuroendocrinology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."