Results 21 to 30 of about 6,819 (177)

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   +2 more sources

Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population

Lipids in Health and Disease, 2018
Background The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate.
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su   +3 more
doaj   +2 more sources

Transcriptional and Functional Analyses of SLC12A3 Mutations [PDF]

Journal of the American Society of Nephrology, 2007
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 characterized by significant inter- and intrafamilial phenotype variability, with early onset and/or severe clinical manifestations in some patients.
Riveira-Munoz, E., Chang, Q., Godefroid, N., Hoenderop, J.G.J., Bindels, R.J.M., Dahan, K., Devuyst, O.   +6 more
openaire   +5 more sources

MyGene2 automated match report: SLC12A3

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
The MyGene2 team (3237057)
openaire   +2 more sources

A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

Acta Epileptologica, 2023
Abstract Background Gitelman syndrome (GS) is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Case presentation We report a rare case of GS with homozygous loss of SLC12A3 ...
Ying Wang, Wenting Huang, Jia Li, Shumin Mao, Wenqiang Fang, Huiqin Xu   +5 more
openaire   +4 more sources

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Genes, 2022
Familial PHEOs (pheochromocytomas) are inherited as an autosomal dominant trait, and inherited PHEOs can be one clinical phenotype of clinical syndromes, such as multiple endocrine neoplasia type 2A (MEN2A). In recent years, there has been a lot of controversy about the factors affecting the penetrance of PHEOs in MEN2A, of which the effects of RET ...
Lin Zhao, Kun-Qi Yang, Peng Fan, Ding-Xu Gong, Lin Zhang, Yi-Ting Lu, Xu Meng, Xian-Liang Zhou   +7 more
openaire   +3 more sources

Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient

International Journal of General Medicine, 2021
Mei Zhong,1,* Zhenwei Zhai,2,* Xing Zhou,1 Jingxia Sun,1 Hui Chen,1 Wensheng Lu1 1Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People’s Republic of China; 2Department of Endocrinology, Tongde ...
Zhong M, Zhai Z, Zhou X, Sun J, Chen H, Lu W   +5 more
doaj   +4 more sources

Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene [PDF]

Reumatismo, 2020
Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,
E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani   +6 more
doaj   +2 more sources

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb-Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome. [PDF]

Acta Physiol (Oxf)
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Kortenoeven MLA, Bogdanovic M, Appel I, Skjødt K, Fuchtbauer EM, Madsen K, Lund L, Chambrey R, Eladari D, Alexander RT, Hübner CA, Hennings JC, Dimke H.   +12 more
europepmc   +2 more sources

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   +2 more sources