Results 61 to 70 of about 7,281,051 (191)

Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system

Stem Cell Research
Gitelman’s disease is caused by a genetic mutation in the solute carrier family 12 member 3 (SLC12A3) gene, which encodes the sodium chloride cotransporter.
Sun Woo Lim, Kang In Lee, Sheng Cui, Xianying Fang, Yoo Jin Shin, Hanbi Lee, Chul Woo Yang, Jae Young Lee, Byung Ha Chung   +8 more
doaj   +1 more source

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis

Case Reports in Nephrology and Dialysis, 2021
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
doaj   +1 more source

Developmental Expression Patterns of KCC2 and Functionally Associated Molecules in the Human Brain [PDF]

, 2015
Peer ...
Jovanov-Milošević, Natasa, Judas, Milos, Kaila, Kai Kalervo, Krušlin, B, Puskarjov, Martin, Sedmak, Goran, Ulamec, Monica   +6 more
core   +1 more source

Mutationsanalysen bei hereditären Salzverlusttubulopathien [PDF]

, 2004
Der Begriff Bartter-Syndrom stellt den historisch bedingten Sammelbegriff für einige hereditäre Tubulopathien dar, denen eine chronische hypokaliämische metabolische Alkalose gemein ist.
Ott, Henning, Seyberth, Hannsjörg W. Prof. Dr. med.   +1 more
core   +1 more source

The future of pharmacogenetics in the treatment of heart failure [PDF]

, 2015
Heart failure is a common disease with high levels of morbidity and mortality. Current treatment comprises β-blockers, ACE inhibitors, aldosterone antagonists and diuretics.
Alex S Doney, Chim C Lang, Colin N Palmer, Green SA, Helen M Parry, Lanfear DE, Levy AP, Lillvis JH, Mesquita ET, Mohamed Subhan Anwar, Morrison AC, Muhammad Zaid Iskandar   +11 more
core   +2 more sources

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review

Clinical Case Reports, 2017
Key Clinical Message Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the ...
Ming‐Feng Xia, Hua Bian, Hong Liu, Hui‐Juan Wu, Zhi‐Gang Zhang, Zhi‐Qiang Lu, Xin Gao   +6 more
doaj   +1 more source

TRAP5 Inhibition Targeting Scar‐Associated Macrophages Ameliorates Acute Kidney Injury to Chronic Kidney Disease Transition

Advanced Science, Volume 13, Issue 26, 8 May 2026.
This study delineates macrophage heterogeneity along the acute kidney injury to chronic kidney disease transition. Single‐cell RNA sequencing reveals a TRAP5+ scar‐associated macrophage subset driven by Spp1–Cd44 signaling and mitochondrial metabolic reprogramming.
Chenxi Wang, Yaodong Gu, Wen Du, Lin Xie, Jinwei Quan, Yu Zhao, Ye Cheng, Zhaonan Wei, Yuanyuan Sha, Yi Wang, Dechao Xu, Xiang Gao, Min Chen, Xiangchen Gu   +13 more
wiley   +1 more source

Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension [PDF]

, 2015
Recent evidence showed that endogenous nicotinamide adenine dinucleotide phosphate-oxidase 4 (NOX4) may exert a protective role on the cardiovascular system inducing vasodilation, reduction of blood pressure, and anti-proliferative actions.
Calò, Lorenzo A, Davis, Paul A, Maiolino, Giuseppe, Pagnin, Elisa, Ravarotto, Verdiana, Savoia, Carmine   +5 more
core  

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]

, 2019
BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli, A Garcia Castano, A Sanei-Moghaddam, A Shibli Al, Anoush Azarfar, CM Bates, DB Simon, DB Simon, DB Simon, Dor Mohammad Kordi-Tamandani, Ehsan Ghayoor Karimiani, F Tinsa, Farkhondeh Behjati, FC Bartter, G Morineau, G Vilotijevic-Dautovic, H Blons, H Saneian, HJ Gitelman, I Kurtz, I Pela, I Zelikovic, I Zelikovic, Isabel Schüle, J Souza-Menezes, JJ Gorgojo, JL Wemeau, K Kosicka, K Laghmani, K Nozu, M Konrad, M Soleimani, M Yau, Maryam Najafi, Miriam Schmidts, MJ Galaviz-Ballesteros, MJ McGinniss, MM Dahabreh, N Kandasamy, ND Rendtorff, O Eğrıtaş, P Hoglund, R Birkenhäger, S Baumner, S Makela, S Watanabe, Simin Sadeghi-Bojd, W Reardon, YF Guo, Zeineb Bakey   +49 more
core   +3 more sources

Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder

Endocrine Connections, 2022
Purposes: This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these ...
Lanping Jiang, Xiaoyan Peng, Bingbin Zhao, Lei Zhang, Lubin Xu, Xuemei Li, Min Nie, Limeng Chen   +7 more
doaj   +1 more source