Results 11 to 20 of about 6,819 (177)

Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome

International Journal of General Medicine, 2023
Zeli Xun,1,* Pengfei Gao,2,3,* Yanan Du,1 Xue Yan,3 Jingmin Yang,2– 4 Zhihua Wang1 1Department of Endocrinology, Xi’an Children’s Hospital, Shanxi, People’s Republic of China; 2State Key Laboratory of Genetic Engineering, School of Life Sciences,
Xun Z, Gao P, Du Y, Yan X, Yang J, Wang Z   +5 more
doaj   +4 more sources

A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia [PDF]

BMC Nephrology, 2018
Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang, Shaoli Zhao, Yanhong Xie, Zhaohui Mo   +3 more
doaj   +4 more sources

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry [PDF]

Nefrología (English Edition), 2017
Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou   +11 more
doaj   +10 more sources

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome [PDF]

BMC Pediatrics, 2019
Background Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have
Yuanmei Kong, Ke Xu, Ke Yuan, Jianfang Zhu, Weiyue Gu, Li Liang, Chunlin Wang   +6 more
doaj   +4 more sources

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene [PDF]

BMC Nephrology, 2018
Background Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go ...
Qin Chen, Yaqin Wu, Jingya Zhao, Ying Jia, Wei Wang   +4 more
doaj   +4 more sources

Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome

Orphanet Journal of Rare Diseases
Background Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic alkalosis and hypomagnesemia, due to biallelic pathogenic variants in the solute carrier family 12 member 3 (SLC12A3) gene encoding a sodium-chloride ...
Na Wang, Yuanxing Yang, Xiong Tian, Hongjun Fu, Shuaishuai Chen, Juping Du, Mengyi Xu, Haixia He, Bo Shen, Jiaqin Xu   +9 more
doaj   +4 more sources

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree [PDF]

BMC Medical Genetics, 2018
Background Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities ...
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li   +5 more
doaj   +4 more sources

Cryptic exon activation in SLC12A3 in Gitelman syndrome [PDF]

Journal of Human Genetics, 2016
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia.
Nozu, Kandai, Nozu, Yoshimi, Nakanishi, Keita, Konomoto, Takao, Horinouchi, Tomoko, Shono, Akemi, Morisada, Naoya, Minamikawa, Shogo, Yamamura, Tomohiko, Fujimura, Junya, Nakanishi, Koichi, Ninchoji, Takeshi, Kaito, Hiroshi, Morioka, Ichiro, Taniguchi-Ikeda, Mariko, Vorechovsky, Igor, Iijima, Kazumoto   +16 more
openaire   +5 more sources

New SLC12A3 disease causative mutation of Gitelman’s syndrome

World Journal of Nephrology, 2016
Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS.
Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma   +8 more
openaire   +3 more sources

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   +3 more sources