Results 71 to 80 of about 2,946 (202)

Modeling and functional consequences of the p.Tyr313His KISS1R mutation. Panel A.

, 2013
Evolutionary conservation of Tyr313. Tyr313 is totally conserved among KISS1R homologs. Hs: Homo sapiens; Nl: Nomascus leucogenys; Cf: Canis familiaris; Bt: Bos taurus; Mm: Mus musculus; Rn: Rattus norvegicus; Sh: Sarcophilus harrisii; Oa ...
Ronan Roussel (101806), Bruno Francou (101791), Marc Lombès (39125), Jérôme Fagart (101795), Jacques Young (101833), Jérôme Bouligand (101786), Frédéric Brioude (101781), Say Viengchareun (39121), Sylvie Brailly-Tabard (101823), Laurent Combettes (101816), Anne Guiochon-Mantel (101841)   +10 more
core   +1 more source

Wnt Signaling Pathway: Biological Function, Diseases, and Therapeutic Interventions

MedComm, Volume 7, Issue 1, January 2026.
The Wnt signaling pathway is essential for development and tissue homeostasis, while its dysregulation drives diverse diseases. This review systematically outlines its components, functions, regulators, and preclinical models, highlighting secreted frizzled‐related proteins (SFRPs) as context‐dependent, biphasic modulators.
Xiaoyu Jin, Jiahui Wang, Runyi Cao, Dongsheng Jiang   +3 more
wiley   +1 more source

Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang, Shasha Zhou, Qingxu Liu, Xiaoqin Yin, Pin Li   +4 more
wiley   +1 more source

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

, 2010
Context: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).
JORGE, A., BIANCO, S. D., A. C. Latronico, M. G. Teles, Costa, E M, G. Guerra-Junior, BENEDUZZI, D., BAPTISTA, M. T., S. D. Bianco, E. M. Costa, Teles, M G, MENDONCA, B. B., A. Jorge, Trarbach, E B, S. D. Noel, D. Beneduzzi, Guerra-Junior, G, GUERRA-JUNIOR, G., M. T. Baptista, Castro, M De, COSTA, E. M., TRARBACH, E. B., Noel, S D, NOEL, S. D., Mukherjee, A, TELES, M. G., Beneduzzi, D, Baptista, M T, Jorge, A, Bianco, S D, Kaiser, U B, Latronico, A C, E. B. Trarbach, MUKHERJEE, A., A. Mukherjee, U. B. Kaiser, KAISER, U. B., B. B. Mendonca, LATRONICO, A. C., CASTRO, M. De, M. De Castro, Mendonça, B B, De Castro, M   +42 more
core   +1 more source

Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2018
Summary Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of
Chelaghma, N, Rajkanna, J, Trotman, J, Fuller, G, Elsey, T, Park, SM, Oyibo, SO   +6 more
openaire   +3 more sources

Metabolic Reprogramming in Recurrent Spontaneous Abortion: Key Biomarkers Identification and Diagnostic Model Development

IET Systems Biology, Volume 20, Issue 1, January/December 2026.
This study aims to identify differentially expressed genes associated with metabolic reprogramming in RSA. Using both bulk and single‐cell RNA sequencing datasets from the Gene Expression Omnibus (GEO), we constructed a machine learning‐based diagnostic model and investigated cell‐type‐specific immune‐metabolic crosstalk.
Fan Wu, Chuanmei Qin, Xiaowei Wei, Qian Li, Yi Yuan, Weihong Zeng, Yi Lin   +6 more
wiley   +1 more source

Developmental Profile and Sexually Dimorphic Expression of Kiss1 and Kiss1r in the Fetal Mouse Brain [PDF]

Frontiers in Endocrinology, 2013
The hypothalamic-pituitary-gonadal axis (HPG) is a complex neuroendocrine circuit involving multiple levels of regulation. Kisspeptin neurons play essential roles in controlling the HPG axis from the perspectives of puberty onset, oscillations of gonadotropin releasing hormone (GnRH) neuron activity, and the pre-ovulatory LH surge.
Knoll, John Gabriel, Clay, Colin M., Bouma, Gerrit J., Henion, Timothy R., Schwarting, Gerald A., Millar, Robert P., Tobet, Stuart A.   +6 more
openaire   +5 more sources

Exploring the Role of Kisspeptin in Polycystic Ovary Syndrome and Its Associated Pregnancy Complications

Obesity Reviews, Volume 27, Issue 1, Page 1-21, January 2026.
ABSTRACT Polycystic ovary syndrome (PCOS) is a common endocrine disorder with a complex pathogenesis that includes disordered follicle development, hypothalamic–pituitary–ovarian (HPO) axis dysfunction, hyperandrogenemia, and insulin resistance. The risk of complications during pregnancy, such as gestational diabetes mellitus (GDM) and preeclampsia (PE)
Shaohua Zhang, Xinmeng Sun, Haiyun Guan, Rongmin Wang, Wei Zhang, Hexia Xia   +5 more
wiley   +1 more source

Studies of the mouse Kiss1r promoter and its regulation by estrogen [PDF]

, 2011
Kisspeptin, and its G-protein-coupled receptor, Kiss1r, participate in the regulation of gonadotropin-releasing hormone (GnRH) secretion, which regulates feedback pathways that control reproductive hormones.
Kose, Lara Tamar
core  

Down-regulation of hypothalamic kisspeptin and its receptor, Kiss1r, mRNA expression is associated with stress-induced suppression of luteinising hormone secretion in the female rat

, 2009
Identification of kisspeptin (Kiss1) and its G protein-coupled receptor 54 (Kiss1r) as an essential component of the hypothalamic-pituitary-gonadal (HPG) axis controlling gonadotrophin secretion raises the possibility that kisspeptin-Kiss1r signalling ...
Kinsey-Jones, J. S., Wilkinson, E. S., Chaudhary, A A, Li, X. F., O'Byrne, K T, Lightman, S. L., Milligan, S. R., Lightman, S L, O'Byrne, K. T., Knox, A M I, Li, X F, Wilkinson, E S, Zhu, X. L., Knox, A. M. I., Kinsey-Jones, J S, Chaudhary, A. A., Zhu, X L, Milligan, S R   +17 more
core   +1 more source