Results 101 to 110 of about 10,292,350 (166)

Does hydrochlorothiazide-associated hyponatremia in hypertensive individuals have a genetic origin?

Clinical and Experimental Hypertension
Objective Hyponatremia is one of the most common electrolyte disorders in clinical practice and is frequently observed following thiazide use. Advanced age and female gender are implicated in the etiology of hydrochlorothiazide (HCTZ)-associated ...
Gulsum Ozkan, Caner Celik, Hilmi Tozkir, Semih Asıkovali, Nergiz Bayrakci   +4 more
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Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.

, 2003
Item does not contain fulltextBACKGROUND: Based on genetic studies in families with hereditary renal Mg(2+) reabsorption disorders, several genes were shown to be involved in renal Mg(2+) transport.
Vliet, W.A. van der, Willems, J.L., Heuvel, L.P.W.J. van den, Knoers, N.V.A.M., Monnens, L.A.H., Hemmes, S., Meij, I.C.   +6 more
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Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. [PDF]

, 2007
Contains fulltext : 52639.pdf (Publisher’s version ) (Open Access)Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the sodium-chloride co-transporter (NCC). GS is
Bindels, René J, Riveira-Munoz, Eva, Godefroid, N., Karin Dahan, Bindels, R.J.M., Olivier Devuyst, Eva Riveira-Munoz, Qing Chang, Godefroid, Nathalie, Dahan, Karin, Chang, Q., Joost G. Hoenderop, Hoenderop, J.G.J., Devuyst, Olivier, Devuyst, O., Nathalie Godefroid, Chang, Qing, Hoenderop, Joost G., Riveira-Munoz, E., Dahan, K., Rene[Combining Acute Accent] J. Bindels   +20 more
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Supplementary Material for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

, 2016
Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China ...
Lin L. (2888117), Chen X. (2888087), Ma J. (2888108), Chen N. (2888105), Zhang W. (2888090), Ren H. (2888114), Wang W. (2888099), Wang Z. (2888096), Shen P. (2888093), Zhang C. (2888102), Xie J. (2888111)   +10 more
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PowerPoint Slides for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

, 2016
Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China ...
Lin L. (2888117), Chen X. (2888087), Ma J. (2888108), Chen N. (2888105), Zhang W. (2888090), Ren H. (2888114), Wang W. (2888099), Wang Z. (2888096), Shen P. (2888093), Zhang C. (2888102), Xie J. (2888111)   +10 more
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Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population

, 2019
Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical
Song Lei, Tianyu Zhao, Zheng Li, Xiaohua Tan, Liu Huang, Lei Yang   +5 more
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SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy

, 2006
Diabetic nephropathy is the most common cause of end-stage renal disease (ESRD). Genetic susceptibility plays an important role in the development and progression of diabetic nephropathy.
Park, Kyong Soo, Park, Byung Lae, Moon, Min Kyong, Ahn, Curie, Lee, Hong Kyu, Cho, Young Min, Hwang, Young Hwan, Oh, Kook Whan, Kim, Jae Hyeon, Shin, Hyoung Doo, Kim, Seong Yeon   +10 more
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New aspects of renal pathophysiology in examination of human angiotensin II type 1 receptor activating antibodies and SLC12A3 mutations

, 2015
Das Gitelman Syndrom ist eine relativ häufige monogenetische, renale Tubuluserkrankung (SLC12A3 Gen) des Menschen mit autosomal-rezessivem Erbgang. Das Gitelman Syndrom führt relativ langsam zur Reduktion der glomerulären Filtrationsrate (GFR) mit der ...
Kehr, Jasmin
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Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance

, 2012
We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients.
Rupps, Rosemarie, Mammen, Cherry, Trnka, Peter, Boerkoel, Cornelius F.   +3 more
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Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report

Therapeutics and Clinical Risk Management, 2018
Cristina Gug,1 Adelina Mihaescu,2 Ioana Mozos3,4 1Department of Microscopic Morphology, 22nd Department of Internal Medicine, 3Department of Functional Sciences, 4Center for Translational Research and Systems Medicine, “Victor Babes&rdquo ...
Gug C, Mihaescu A, Mozos I
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