Results 101 to 110 of about 7,332 (203)

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

BMC Nephrology, 2017
Background Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake   +6 more
doaj   +1 more source

Genome‐wide study links cardiometabolic factors to cognition via APOA4‐APOA5‐ZPR1‐BUD13 and other loci in rural Indians

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION Cardiometabolic risks affect cognition during aging, yet genetic basis for both remain understudied in Indians. METHODS This study constructs an ancestry‐matched Indian haplotype reference panel for genotype imputation of 5111 rural Indians. Single‐locus, gene‐based, conditional genome‐wide association analyses are performed on 20
Shreya Chakraborty, Krithika Subramanian, Akkshaya Rajesh, Rupanwita Majumder, Khader Valli Rupanagudi, Abhishek Mensegere, TLSA study team, Thomas Gregor Issac, SANSCOG study team, Jonas Sundarakumar, Bratati Kahali   +10 more
wiley   +1 more source

A Network of SLC and ABC Transporter and DME Genes Involved in Remote Sensing and Signaling in the Gut-Liver-Kidney Axis. [PDF]

, 2019
Genes central to drug absorption, distribution, metabolism and elimination (ADME) also regulate numerous endogenous molecules. The Remote Sensing and Signaling Hypothesis argues that an ADME gene-centered network-including SLC and ABC "drug" transporters,
Bush, Kevin T, Nigam, Sanjay K, Rosenthal, Sara Brin   +2 more
core   +1 more source

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses [PDF]

, 2018
High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants.
A McKenna, A Scally, A Telenti, AA Alshatwi, B Charlesworth, C Dong, C Genomes Project, C Loveday, D Hong, D Lakich, D Pinto, D Welter, DE Reich, DG MacArthur, DI Boomsma, EM Shore, FS Collins, GH Perry, H Li, H Stefansson, HP-AS Consortium, J Huddleston, J Jakobsson, J Wang, JI Kim, JR MacDonald, K Chen, K Ye, L Feuk, LP Wong, LT Chen, M Lek, M Nagasaki, MC Hunt, MJ Bamshad, MJ Landrum, ML Bondeson, P Cingolani, P Kraft, PH Sudmant, PH Sudmant, R Ihaka, R Redon, RE Mills, S Besenbacher, S Lee, S Malik, S Purcell, S Tunaru, SA McCarroll, SH Kwak, SM Ahn, ST Sherry, T Mimori, TL Yang, V Boeva, W Zhang, X Wang, YS Cho, YS Ju   +59 more
core   +2 more sources

Gene expression and functional annotation of the human and mouse choroid plexus epithelium [PDF]

, 2013
Background: The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the brain ventricles and produces the cerebrospinal fluid (CSF), which is crucial for brain homeostasis.
Bergen, A.A.B. (Arthur), Brink, J.B. (Jacoline) ten, Essing, A.H.W. (Anke), Gorgels, T.G.M.F. (Theo), Jansonius, N.M. (Nomdo), Janssen, S.F. (Sarah), Spek, P.J. (Peter) van der, Spek, S.J.F. (Sophie) van der   +7 more
core   +1 more source

Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report

World Journal of Clinical Cases, 2020
Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting in disordered function of the thiazide-sensitive NaCl co-transporter.
Yu, Ri-Zhen, Chen, Mao-Sheng
openaire   +2 more sources

Evaluación de la contribución del factor de transcripción hand2 en la morfogénesis del pronefros durante el desarrollo en pez Cebra [PDF]

, 2014
Las enfermedades y problemas renales son más frecuentes en la actualidad. A nivel mundial, aproximadamente 1 de cada 1000 personas requieren un trasplante de riñón, y solo el 10% logra conseguirlo a tiempo.
Guio Vega, Gina Paola
core  

Evidence that links loss of cyclooxygenase-2 with increased asymmetric dimethylarginine : novel explanation of cardiovascular side effects associated with anti-inflammatory drugs [PDF]

, 2014
© 2014 The Authors. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.BACKGROUND: Cardiovascular ...
Ahmetaj-Shala, Blerina, Al'Yamani, Malak, Armstrong, Paul C. J., Kirkby, Nicholas S., Knowles, Rebecca, Leiper, James, Mackenzie, Louise, Mazi, Sarah, Mitchell, Jane A., Nüsing, Rolf M., Tomlinson, James A. P., Tucker, Arthur T., Wang, Zhen, Warner, Timothy D.   +13 more
core   +4 more sources

The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]

, 2017
Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna, Ferreri, Nicholas R., Graham, Lesley A.   +2 more
core   +1 more source

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

Kidney International Reports, 2019
Introduction: Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia and/or hypomagnesemia ...
Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Kenichi Miyako, Yoshimi Nozu, Naoya Morisada, Hiroaki Nagase, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima   +16 more
doaj   +1 more source