Varaico: Literature-Extracted Genetic Variants

Gene:KISS1
Variant:p.P74S
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KISS1

NM_002256.4:p.P74S

Associated Papers

Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications.

Argente J et al.

The Lancet. Diabetes & Endocrinology, 2023

Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty.

Shim YS et al.

International Journal of Molecular Sciences, 2022

Genetics of pubertal timing.

Mancini A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 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

A review of the genetics and epigenetics of central precocious puberty.

Moise-Silverman J et al.

Frontiers in Endocrinology, 2022

Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.

Maione L et al.

Clinical Endocrinology, 2021

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

Roberts SA et al.

European Journal of Endocrinology, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
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Kisspeptin and attributes of infertile males and females: A cross-sectional study in a subset of Pakistani population.

Rehman R et al.

Andrologia, 2019

Pioneering studies on monogenic central precocious puberty.

Canton APM et al.

Archives of Endocrinology and Metabolism, 2019

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Winter S et al.

Frontiers in Pediatrics, 2019

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.

Fanis P et al.

Frontiers in Endocrinology, 2019

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

Bessa DS et al.

Neuroendocrinology, 2017

An update on the genetic causes of central precocious puberty.

Shin YL

Annals of Pediatric Endocrinology & Metabolism, 2016

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

Macedo DB et al.

Endocrine Development, 2016

Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.

Zhang Y et al.

Journal of Assisted Reproduction and Genetics, 2015

Mutation of kisspeptin 1 gene in children with precocious puberty in isfahan city.

Mazaheri A et al.

International Journal of Preventive Medicine, 2015

Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty.

Krstevska-Konstantinova M et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2014

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

Bulcao Macedo D et al.

Neuroendocrinology, 2014

Molecular biology of the kisspeptin receptor: signaling, function, and mutations.

Bianco SD et al.

Advances in Experimental Medicine and Biology, 2013

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

Tusset C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

DNA polymorphisms of the KiSS1 3' untranslated region interfere with the folding of a G-rich sequence into G-quadruplex.

Huijbregts L et al.

Molecular and Cellular Endocrinology, 2012

The genes associated with gonadotropin-releasing hormone-dependent precocious puberty.

Hwang JS

Korean Journal of Pediatrics, 2012

A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: sex-specific kisspeptin as an integrator of puberty signals.

Bianco SD

Frontiers in Endocrinology, 2012

New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.

Teles MG et al.

Molecular and Cellular Endocrinology, 2011

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.

Wahab F et al.

Molecular and Cellular Endocrinology, 2011

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty.

Tommiska J et al.

Bmc Research Notes, 2011

KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.

Bianco SD et al.

Endocrinology, 2011

Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

Silveira LG et al.

Brain Research, 2010

Genetics basis for GnRH-dependent pubertal disorders in humans.

Silveira LF et al.

Molecular and Cellular Endocrinology, 2010

Mutations of the KISS1 gene in disorders of puberty.

Silveira LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

[Kisspeptin and leptin in the regulation of fertility].

Pankov YA

Molekuliarnaia Biologiia, 0

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