Varaico: Literature-Extracted Genetic Variants

Gene:KISS1
Variant:p.H90D
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KISS1

NM_002256.4:p.H90D

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.

Berthon A et al.

Human Molecular Genetics, 2020

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

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Rehman R et al.

Andrologia, 2019

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

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

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Chan YM et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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

Wahab F 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

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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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."