Results 51 to 60 of about 7,332 (203)

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

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report

BMC Medical Genomics, 2021
Background Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.
Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu, Leping Shao   +5 more
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

Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review

BMC Nephrology, 2023
A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves’ disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis.
Jing Xu, Juan He, Shujing Xu, Rui Wang, Nianchun Peng, Miao Zhang   +5 more
doaj   +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

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  

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. [PDF]

, 1997
BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. It requires lifelong K and Mg supplementation at high doses that are at best unpalatable and at worst ...
A. Ingsathit, A. Thakkinstian, Asderakis, Cerwenka, Chow, Cuhaci, D. O. McDaniel, Dmitrienko, Fox, Hutchings, Hutchinson, I  igo, J. Attia, K. M. Chow, Loucaidou, M. Gerbase-DeLima, M. McEvoy, Marshall, McDaniel, Melk, Morgun, Morris, Mytilineos, Oxman, P. Inigo, P. Trevillian, Pankewycz, S. Dmitrienko, Simmonds, Smith, Suthanthiran, Swain, Tagore, Thakkinstian, Thompson, Tian, Tinckam, Turner, W. H. Barber, Warl  , Weimer   +40 more
core   +33 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source