Results 91 to 100 of about 6,819 (177)

Gitelman syndrome – A new mutation in the SLC12A3 gene

Nefrología, 2022
Ana Luísa Correia, Maria Guedes Marques, Rui Alves   +2 more
openaire   +5 more sources

Characterization of putative transcription factor motifs within human SLC12A3 gene and the effect of sVpr on the association of MR to its binding regions.

, 2022
(A) Human DCT cells were exposed to aldosterone or vehicle, with or without sVpr, and were processed for the ChIP assay, using anti-FLAG antibody, targeting FLAG-MR.
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

Supplementary Material for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

, 2016
Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China ...
Lin L. (2888117), Chen X. (2888087), Ma J. (2888108), Chen N. (2888105), Zhang W. (2888090), Ren H. (2888114), Wang W. (2888099), Wang Z. (2888096), Shen P. (2888093), Zhang C. (2888102), Xie J. (2888111)   +10 more
core   +1 more source

PowerPoint Slides for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

, 2016
Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China ...
Lin L. (2888117), Chen X. (2888087), Ma J. (2888108), Chen N. (2888105), Zhang W. (2888090), Ren H. (2888114), Wang W. (2888099), Wang Z. (2888096), Shen P. (2888093), Zhang C. (2888102), Xie J. (2888111)   +10 more
core   +1 more source

New aspects of renal pathophysiology in examination of human angiotensin II type 1 receptor activating antibodies and SLC12A3 mutations

, 2015
Das Gitelman Syndrom ist eine relativ häufige monogenetische, renale Tubuluserkrankung (SLC12A3 Gen) des Menschen mit autosomal-rezessivem Erbgang. Das Gitelman Syndrom führt relativ langsam zur Reduktion der glomerulären Filtrationsrate (GFR) mit der ...
Kehr, Jasmin
core   +1 more source

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

Kidney International Reports, 2019
Introduction: Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia and/or hypomagnesemia ...
Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Kenichi Miyako, Yoshimi Nozu, Naoya Morisada, Hiroaki Nagase, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima   +16 more
doaj   +1 more source

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome

, 2005
Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia ...
Maurizio Travi, C. Mattiello, A. Bettinelli, Marisa Giani, Marie-Louise Syrén, D. Coviello, S. Tedeschi, Nicolò Borsa, Alberto Edefonti, M. Giani, Camilla Mattiello, N. Borsa, Silvana Tedeschi, A. Edefonti, E.M.L. Syren, Alberto Bettinelli, M. Travi, Domenico Coviello   +17 more
core   +1 more source

Research Analysis of SLC12A3 Gene Mutation and Molecular Mechanism in Gitelman Syndrome

罕见病研究
ObjectiveThis study aimed at conducting retrospective analysis of the clinical symptoms and genetic mutations in 20 children with Gitelman syndrome treated at the Affiliated Children′s Hospital of Nanjing Medical University from August 2015 to November ...
WANG Chunli, ZHENG Bixia, ZHOU Wei, CHE Ruochen, ZHAO Fei, ZHANG Aihua, DING Guixia   +6 more
doaj   +1 more source

Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review

BMC Endocrine Disorders, 2018
Background Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH.
Haiyang Zhou, Xinhuan Liang, Yingfen Qing, Bihui Meng, Jia Zhou, Song Huang, Shurong Lu, Zhenxing Huang, Haiyan Yang, Yan Ma, Zuojie Luo   +10 more
doaj   +1 more source

Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population

, 2019
Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical
Song Lei, Tianyu Zhao, Zheng Li, Xiaohua Tan, Liu Huang, Lei Yang   +5 more
core   +1 more source