Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.P161fs
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MKRN3

NM_005664.4:p.P161fs

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

Phenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.

Yamanaka MYM et al.

Hormone Research in Paediatrics, 2025

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

E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non-small cell lung cancer.

Li K et al.

The Journal of Experimental Medicine, 2021

34143182 (PubMed )
Supplement: JEM_20210151_TableS1.xlsx › sTable_1

Familial central precocious puberty: two novel MKRN3 mutations.

Varimo T et al.

Pediatric Research, 2021

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 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

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.

Suzuki E et al.

Human Genome Variation, 2019

Underdiagnosis of central precocious puberty in boys with loss-of-function mutations of MKRN3.

Brito VN et al.

The Journal of Pediatrics, 2017

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

Bessa DS et al.

Neuroendocrinology, 2017

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

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Dimitrova-Mladenova MS et al.

The Journal of Pediatrics, 2016

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

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.

Stecchini MF et al.

Hormone Research in Paediatrics, 2016

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

Abreu AP et al.

Journal of Molecular Endocrinology, 2015

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."