Associated Papers
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications.
Argente J et al.
The Lancet. Diabetes & Endocrinology, 2023
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
Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty.
Faienza MF 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
KISS1R polymorphism rs587777844 (Tyr313His) is linked to female infertility.
Siahpoosh Z et al.
British Journal of Biomedical Science, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Pioneering studies on monogenic central precocious puberty.
Canton APM et al.
Archives of Endocrinology and Metabolism, 2019
Association analysis of polymorphisms of G protein-coupled receptor 54 gene exons with reproductive traits in Jiaxing Black sows.
Wu F et al.
Asian-australasian Journal of Animal Sciences, 2019
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
Alzahrani AJ et al.
Case Reports in Pediatrics, 2019
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.
Fukami M et al.
Journal of Cellular and Molecular Medicine, 2017
Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.
Oh YJ et al.
Journal of Korean Medical Science, 2017
An update on the genetic causes of central precocious puberty.
Shin YL
Annals of Pediatric Endocrinology & Metabolism, 2016
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
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
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
Mutagenesis and analysis of genetic mutations in the GC-rich KISS1 receptor sequence identified in humans with reproductive disorders.
Madeira da Silva L et al.
Journal of Visualized Experiments : Jove, 2011
G protein-coupled receptors: mutations and endocrine diseases.
Vassart G et al.
Nature Reviews. Endocrinology, 2011
KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.
Bianco SD et al.
Endocrinology, 2011
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
Nimri R et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
Chan YM et al.
Peptides, 2009
Human diseases associated with GPR54 mutations.
Teles MG et al.
Progress in Molecular Biology and Translational Science, 2009
Kisspeptin and GPR54: discovery of a novel pathway in reproduction.
Seminara SB et al.
Journal of Neuroendocrinology, 2008
A GPR54-activating mutation in a patient with central precocious puberty.
Teles MG et al.
The New England Journal of Medicine, 2008
The kisspeptin-GnRH pathway in human reproductive health and disease.
Skorupskaite K et al.
Human Reproduction Update, 0
[Kisspeptin and leptin in the regulation of fertility].
Pankov YA
Molekuliarnaia Biologiia, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0