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
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
The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.
Toutoudaki K et al.
Children (basel, Switzerland), 2023
Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty.
Shim YS et al.
International Journal of Molecular Sciences, 2022
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
Familial central precocious puberty: two novel MKRN3 mutations.
Varimo T et al.
Pediatric Research, 2021
MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty.
Li C et al.
Nucleic Acids 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 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
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Suzuki E et al.
Human Genome Variation, 2019
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
An update on the genetic causes of central precocious puberty.
Shin YL
Annals of Pediatric Endocrinology & Metabolism, 2016
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
Simon D et al.
European Journal of Endocrinology, 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 in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.
Settas N 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
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu AP et al.
The New England Journal of Medicine, 2013