Results 21 to 30 of about 5,328,161 (151)

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways. [PDF]

Hum Mutat
Zinc, an indispensable trace element, performs critical functions in human physiology. As a versatile cofactor, zinc participates in over 1000 enzymatic reactions and regulates more than 2000 transcription factors, orchestrating diverse cellular signaling pathways.
Sun B, Ma J, Bai X, Wang S.
europepmc   +2 more sources

Leydig Cell Hypoplasia and Pituitary Stalk Agenesis: Genetic Link or Coincidence

Saudi Journal of Medicine, 2022
Leydig cell hypoplasia illustrates a rare category of 46, XY DSD "disorders of sex development". We report a case of a patient assigned to the female sex carrying a DSD with 46 XY karyotype on Leydig cell hypoplasia associated with pituitary stalk agenesis. This association has not been described yet in the literature. The patient was first admitted at
Kaoutar Rifai, Hinde Iraqi, Lamyae Echchad, Hajar Kachani, Wahiba Ghaffour, Mohamed El Hassan Gharbi   +5 more
openaire   +1 more source

Inactivation of the Luteinizing Hormone/Chorionic Gonadotropin Receptor by an Insertional Mutation in Leydig Cell Hypoplasia [PDF]

Molecular Endocrinology, 1998
We previously identified a nonsense mutation (Cys545Stop) in the paternal human LH/CG receptor (hLHR) allele in a family with two 46,XY children afflicted with Leydig cell hypoplasia. This mutation abolished the signal transduction capability of the affected hLHR. We have now examined all coding exons and the transcript of both alleles of the hLHR gene
S M, Wu, K M, Hallermeier, L, Laue, C, Brain, A C, Berry, D B, Grant, J E, Griffin, J D, Wilson, G B, Cutler, W Y, Chan   +9 more
openaire   +3 more sources

History of key regulatory peptide systems and perspectives for future research

Journal of Neuroendocrinology, Volume 35, Issue 11, November 2023., 2023
The history of the International Regulatory Peptide Society and RegPep symposia reflects the evolution of regulatory peptide discovery since 1902, which is exemplified by scientific works of Viktor Mutt, Wylie W. Vale Jr and Rolf Håkanson and research on corticotropin‐releasing factor (CRF), enterochromaffin‐like (ECL) cells, cholecystokinin (CCK ...
Duan Chen, Jens F. Rehfeld, Alan G. Watts, Patrik Rorsman, Andrew L. Gundlach   +4 more
wiley   +1 more source

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy

Molecular Genetics &Genomic Medicine, Volume 11, Issue 9, September 2023., 2023
This study sought to describe the case of a 5‐year‐old Chinese boy with KAT6B disease. The deletion mutation changed the leucine at position 1062 to arginine, resulting in the termination of translation after base 3340, which may have affected protein stability and protein‐protein interaction.
Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, Yucai Chen   +8 more
wiley   +1 more source

Environmental oestrogens disrupt testicular descent and damage male reproductive health: Mechanistic insight

Journal of Cellular and Molecular Medicine, Volume 27, Issue 15, Page 2095-2102, August 2023., 2023
Abstract Environmental oestrogens (EEs) as environmental pollutants have been paid much attention due to their impact on congenital malformation of male genitourinary system. Exposure to EEs for prolonged time could hinder testicular descent and cause testicular dysgenesis syndrome.
Danli Li, Hongyan Ping, Ke Li, Junjie Lin, Xuewu Jiang, Xuan Zhang   +5 more
wiley   +1 more source

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia [PDF]

Molecular Endocrinology, 1996
The human LH receptor (hLHR) is a member of the G protein-coupled receptors characterized by the presence of seven-transmembrane (TM) helices. Inactivating mutations of the hLHR lead to Leydig cell hypoplasia (LCH), a form of male pseudohermaphroditism resulting from the failure of fetal testicular Leydig cell differentiation.
L L, Laue, S M, Wu, M, Kudo, C J, Bourdony, G B, Cutler, A J, Hsueh, W Y, Chan   +6 more
openaire   +3 more sources

Leydig cells express neural cell adhesion molecules in vivo and in vitro [PDF]

, 1992
The neural cell adhesion molecule (NCAM) polypeptides are expressed by numerous tissues during embryonic development, where they are involved in cell-cell interactions.
Lahr, G., Wille, W., Seidl, K., Christoph, A., Gratzl, Manfred, Bitter-Suermann, D., Barthels, D., Mayerhofer, Artur   +7 more
core   +1 more source

Use of novel serum markers in clinical follow-up of Sertoli-Leydig cell turnours [PDF]

, 2007
Background: Sertoli-Leyclig cell tumours of the ovary account for only 0.2% of malignant ovarian tumours. Two-thirds of all patients become apparent due to the tumour's hormone production. Methods: A 41-year-old patient (gravida 4, para 4) presented with
Kuemper, Caroline, Diebold, Joachim, Lenhard, Miriam, Ditsch, Nina, Friese, Klaus, Burges, Alexander, Stieber, Petra   +6 more
core   +1 more source

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

JCRPE, 2019
The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and in fertility via its interaction with luteinizing hormone and chorionic gonadotropin.
Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli   +5 more
doaj   +1 more source