Results 51 to 60 of about 6,819 (177)

A novel variant of <i>SLC12A3</i> in Gitelman syndrome with hypertension: a case report. [PDF]

AME Case Rep, 2023
Zhang Y, Guo Z, Gai R, Zhou S, Xia L, Deng D.   +5 more
europepmc   +2 more sources

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

Posterior probabilities under differing hypotheses relating the associations between SBP (in SLC12A3) and ER− breast cancer risk.

, 2022
Footnote: Marginal = SNP associations that are unconditioned (on either the sentinel SNP or additional conditionally independent genome-wide significant SNP for each respective trait), * = Sentinel SNP, † = Conditionally independent and significant (P −8)
Andrea Gsur (9900039), Mark Jenkins (425272), Jennifer Sjaarda (11856968), Mireia Obón-Santacana (11659724), Emma E. Vincent (7639052), Christopher I. Amos (7730234), James Yarmolinsky (739630), Steven Gallinger (108153), Demetrius Albanes (23581), Virginia Díez-Obrero (12041805), Guillaume Paré (84081), Rish K. Pai (12041811), Wei Zheng (25452), Marie Pigeyre (3165678), Jochen Hampe (77512), Tom G. Richardson (7779047), Victor Moreno (748751), George Davey Smith (7180727), Richard M. Martin (7180730), Vanessa Y. Tan (7756985), Heather Hampel (164499), Graham Casey (62350), Venexia M. Walker (12041808)   +22 more
core   +1 more source

A schematic model of Vpr suppression of SLC12A3 transcription activity in the distal convoluted tubule.

, 2022
(A) In the absence of Vpr, aldosterone binds MR in the cytoplasm. The activated MR translocates to the nucleus, where it binds the mineralocorticoid response element (MRE) in genomic DNA.
Hewang Lee (13839931), Huiyan Lu (13839934), Laureano D. Asico (13839946), Peng Xu (17962), James L. T. Dalgleish (13839940), Stephen Hewitt (233071), Robin A. Felder (13839952), Erik H. Koritzinsky (13839943), Hidefumi Wakashin (577298), Avi Z. Rosenberg (632626), John J. Gildea (13839949), Khun Zaw Latt (13839937), Mark A. Knepper (390910), Jeffrey B. Kopp (7923881), Koji Okamoto (640313), Shashi Shrivastav (13839928), Pedro A. Jose (7347122), Joon-Yong Chung (573772), Tomoshige Kino (175881), Teruhiko Yoshida (65725)   +19 more
core   +1 more source

Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Egyptian Journal of Medical Human Genetics, 2022
Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici, Fadime Ersoy Dursun, Hasan Dursun   +2 more
doaj   +1 more source

Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

European Journal of Case Reports in Internal Medicine, 2021
Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos, Fábio Correia, Maria Inês Silva, Sofia Carola, Ana Órfão, Maria Ferreira, Maria Teresa Branco   +6 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T)

Stem Cell Research, 2021
Gitelman Syndrome (GS) is an inherited autosome recessive disorder syndrome, which can be caused by the gene mutations of solute carrier family 12 member 3 gene (SLC12A3).
Xiaoling Guo, Rengchen Qian, Xiaoou Shan, Liang Yang, Huihui Chen, Yinjuan Ding, Congde Chen, Maoping Chu, Jian Lin, Dexuan Wang   +9 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

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Frontiers in Genetics, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Wenqing Chen, Wenqing Chen, Wenqing Chen, Wenqing Chen, Qin Zhou, Qin Zhou, Qin Zhou, Qin Zhou, Hongjun Chen, Hongjun Chen, Hongjun Chen, Hongjun Chen, Heng Li, Heng Li, Heng Li, Heng Li, Jianghua Chen, Jianghua Chen, Jianghua Chen, Jianghua Chen   +19 more
doaj   +1 more source

Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome [PDF]

Clinical Journal of the American Society of Nephrology, 2011
Summary Background and objectives Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC). Despite meticulous sequencing of genomic DNA, approximately one-third of GS patients are negative or ...
Yi-Fen, Lo, Kandai, Nozu, Kazumoto, Iijima, Takahiro, Morishita, Che-Chung, Huang, Sung-Sen, Yang, Huey-Kang, Sytwu, Yu-Wei, Fang, Min-Hua, Tseng, Shih-Hua, Lin   +9 more
openaire   +2 more sources