Results 41 to 50 of about 7,332 (203)

A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHHEX [PDF]

, 2013
BACKGROUND: Genome-wide association studies (GWAS) identify regions of the genome that are associated with particular traits, but do not typically identify specific causative genetic elements.
Baranski, Thomas J, Cagan, Ross L, Collins, Francis S, Fink, Jill L, Na, Jianbo, Narisu, Narisu, Pendse, Jay, Ramachandran, Prasanna V   +7 more
core   +2 more sources

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao   +10 more
doaj   +1 more source

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome [PDF]

Nephrology Dialysis Transplantation, 2008
Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound heterozygous. However, up to 30% of GS patients carry only a single mutant allele, and a normal SLC12A3 screening is also observed in a small ...
Riveira-Munoz, E., Devuyst, O., Belge, H., Jeck, N., Strompf, L., Vargas-Poussou, R., Jeunemaitre, X., Blanchard, A., Knoers, N.V.A.M., Konrad, M., Dahan, K.   +10 more
openaire   +2 more sources

Renal and Blood Pressure Response to a High-Salt Diet in Mice With Reduced Global Expression of the Glucocorticoid Receptor [PDF]

, 2018
Salt-sensitive hypertension is common in glucocorticoid excess. Glucocorticoid resistance also presents with hypercortisolemia and hypertension but the relationship between salt intake and blood pressure (BP) is not well defined.
Ackermann, Al-Dujaili, Al-Dujaili, Alvarez de la Rosa, Ashek, Bailey, Bailey, Bailey, Bailey, Bankir, Basting, Bauer, Bouligand, Chen, Christensen, Craigie, Czogalla, Dunbar, Evans, Ferrario, Gaeggeler, Goodwin, Hall, Henley, Huesler, Hunter, Hunter, Ivy, Ivy, Lewicka, Lienhard, Liu, Mazzocchi, Menzies, Michailidou, Morris, Mu, Mullins, Mullins, Nguyen Dinh Cat, Nieman, Norregaard, Poulsen, Powles, Rakova, Schulz-Baldes, Sei, Shibata, Staessen, Udwan, Usukura, Velazquez, Walter, Yang   +53 more
core   +3 more sources

Affinity proteomics reveals elevated muscle proteins in plasma of children with cerebral malaria [PDF]

, 2014
Systemic inflammation and sequestration of parasitized erythrocytes are central processes in the pathophysiology of severe Plasmodium falciparum childhood malaria. However, it is still not understood why some children are more at risks to develop malaria
Afolabi, Nathaniel K., Ajetunmobi, Wasiu A., Akinbami, Felix O., Akinkunmi, Francis, Bachmann, Julie, Brown, Biobele J., Burte, Florence, Conte, Ianina, Fernandez-Reyes, Delmiro, Kampf, Caroline, Nilsson, Peter, Omokhodion, Samuel, Orimadegun, Adebola E., Pawitan, Yudi, Pramana, Setia, Schwenk, Jochen M., Shokunbi, Wuraola A., Sodeinde, Olugbemiro, Uhlen, Mathias, Wahlgren, Mats   +19 more
core   +3 more sources

Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Egyptian Journal of Medical Human Genetics, 2022
Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici, Fadime Ersoy Dursun, Hasan Dursun   +2 more
doaj   +1 more source

Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

European Journal of Case Reports in Internal Medicine, 2021
Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos, Fábio Correia, Maria Inês Silva, Sofia Carola, Ana Órfão, Maria Ferreira, Maria Teresa Branco   +6 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T)

Stem Cell Research, 2021
Gitelman Syndrome (GS) is an inherited autosome recessive disorder syndrome, which can be caused by the gene mutations of solute carrier family 12 member 3 gene (SLC12A3).
Xiaoling Guo, Rengchen Qian, Xiaoou Shan, Liang Yang, Huihui Chen, Yinjuan Ding, Congde Chen, Maoping Chu, Jian Lin, Dexuan Wang   +9 more
doaj   +1 more source

Life in lights:tracking mitochondrial delivery to lysosomes in vivo [PDF]

, 2016
The past decade has seen an intensive and concerted research effort into the molecular regulation of mitophagy, the selective autophagy of mitochondria.
Ganley, Ian G., McWilliams, Thomas G.
core   +2 more sources

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Frontiers in Genetics, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Wenqing Chen, Wenqing Chen, Wenqing Chen, Wenqing Chen, Qin Zhou, Qin Zhou, Qin Zhou, Qin Zhou, Hongjun Chen, Hongjun Chen, Hongjun Chen, Hongjun Chen, Heng Li, Heng Li, Heng Li, Heng Li, Jianghua Chen, Jianghua Chen, Jianghua Chen, Jianghua Chen   +19 more
doaj   +1 more source