Results 31 to 40 of about 7,332 (203)

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   +2 more sources

Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]

, 2017
Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E, Bienias, M, Bockenhauer, D, Iancu, D, Jenkins, L, Kleta, R, Tse, Y, van't Hoff, W, Walsh, PR   +8 more
core   +1 more source

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome [PDF]

Medical Science Monitor, 2019
BACKGROUND The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. MATERIAL AND METHODS We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS ...
Zeng, Yanmei, Li, Ping, Fang, Shu, Wu, Chunyan, Zhang, Yudan, Lin, Xiaochun, Guan, Meiping   +6 more
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   +3 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   +1 more source

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   +2 more sources

Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population

Kidney & Blood Pressure Research, 2016
Background/Aims: Hypertension or persistent high blood pressure (BP) is a leading cause of death worldwide. Extensive evidence indicates that the thiazide-sensitive Na+-Cl- cotrans-porter (NCC) affects BP via regulation of renal sodium reabsorption ...
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su   +3 more
doaj   +1 more source

A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome [PDF]

Pediatric Research, 2009
Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. In previous studies, only one mutant allele was detected in approximately 20 to 41% of patients with GS; however, the exact reason for the nonidentification has not been established.
Kandai, Nozu, Kazumoto, Iijima, Yoshimi, Nozu, Ei, Ikegami, Takehide, Imai, Xue Jun, Fu, Hiroshi, Kaito, Koichi, Nakanishi, Norishige, Yoshikawa, Masafumi, Matsuo   +9 more
openaire   +2 more sources

Cryptic exon activation in SLC12A3 in Gitelman syndrome

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

Depletion of Tissue-Specific Ion Transporters Causes Differential Expression of PRL Targets in Response to Increased Levels of Endogenous PRL

Frontiers in Endocrinology, 2018
Prolactin (PRL) has been considered a key regulator of ion uptake in zebrafish. The genes slc12a10.2 and slc12a3, which are Na+ and chloride Cl− co-transporters, have been reported to be regulated by PRL in freshwater fish. The integrative network of PRL
Tingting Shu, Tingting Shu, Yuqin Shu, Yuqin Shu, Yanping Gao, Yanping Gao, Xia Jin, Jiangyan He, Gang Zhai, Zhan Yin   +9 more
doaj   +1 more source