Results 181 to 190 of about 7,332 (203)

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

DNA sequence : the journal of DNA sequencing and mapping, 2007
Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild ...
FAVA, Cristiano, MONTAGNANA, Martina, L. Rosberg, P. Burri, A. Jönsson, P. Wanby, H. Wahrenberg, U. L. Hulthén, M. Aurell, GUIDI, Giancesare, O. Melander   +10 more
openaire   +2 more sources

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance

European Journal of Medical Genetics, 2012
We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients. Subsequent molecular testing identified compound heterozygosity for two novel mutations in KCNJ1, (c.556A > G and c.683G > A) which is associated with Bartter syndrome ...
Mammen, Cherry, Rupps, Rosemarie, Trnka, Peter, Boerkoel, Cornelius F.   +3 more
openaire   +3 more sources

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome.

Nephron. Physiology, 2008
Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. In a minority of cases, GS-like phenotypes are caused by mutations in the CLCNKB gene.We searched for SLC12A3 and CLCNKB gene mutations in 13 Chinese patients (9 males and 4 females, age 35 +/- 14 years)
Leping, Shao, Hong, Ren, Weiming, Wang, Wen, Zhang, Xiaopei, Feng, Xiao, Li, Nan, Chen   +6 more
openaire   +1 more source

A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension

American Journal of Kidney Diseases, 2006
We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
Nathalie, Godefroid, Eva, Riveira-Munoz, Christine, Saint-Martin, Marie-Cécile, Nassogne, Karin, Dahan, Olivier, Devuyst   +5 more
openaire   +2 more sources

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome

Clinica Chimica Acta
Gitelman syndrome (GS) is the most prevalent genetic tubulopathy characterized by several electrolyte abnormalities, including hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. These features are caused by a bi-allelic mutation in the SLC12A3 gene.
Chun Yiu, Law, David Tak Wai, Lui, Eunice, Lau, Chariene Shao Lin, Woo, Johnny Yau Cheung, Chang, Eunice Ka Hong, Leung, Alan Chun Hong, Lee, Chi Ho, Lee, Yu Cho, Woo, Wing Sun, Chow, Karen Siu Ling, Lam, Kathryn Choon Beng, Tan, Tsz Ki, Ling, Ching Wan, Lam   +13 more
openaire   +2 more sources

Sequencing and Characterization of the Human Thiazide-Sensitive Na-Cl Cotransporter (SLC12A3) Gene Promoter

Biochemical and Biophysical Research Communications, 2001
The thiazide-sensitive Na-Cl cotransporter SLC12A3 displays expression restricted to distal convoluted tubule cells where it catalyzes the uptake of sodium and chloride through the apical membrane. We sequenced 1959 bp of the 5' flanking region of human SLC12A3, located the area of transcription initiation, and used deletion constructs of the flanking ...
S, MacKenzie, H, Vaitkevicius, W, Lockette   +2 more
openaire   +2 more sources

Role of SLC12A3 gene polymorphisms in diabetic nephropathy

AIP Conference Proceedings, 2022
Mohammed Neamah Alshimmari, Shaymaa Z. Nada, Hayder Ali Mohammed   +2 more
openaire   +1 more source

Novel SLC12A3 Gene Mutations and Clinical Characteristics in Two Pedigrees with Gitelman Syndrome

Clinical Endocrinology, 2023
qiao ying, fei he
exaly  

Genetic and biological effects of sodium-chloride cotransporter (SLC12A3) in diabetic nephropathy.

American journal of nephrology, 2015
Solute carrier family 12 member 3 (SLC12A3) encodes a sodium/chloride transporter in kidneys. Previous reports suggest that Arg913Gln polymorphism in this gene is associated with diabetic nephropathy (DN), but the data appear to be inconsistent. Up to now, there is no biological evidence concerning the effects of SLC12A3 in DN. In this study, we aim to
Norhashimah, Abu Seman, Bing, He, Juha R M, Ojala, Wan Nazaimoon, Wan Mohamud, Claes-Göran, Östenson, Kerstin, Brismar, Harvest F, Gu   +6 more
openaire   +1 more source

SLC12A3: A Novel Prognostic Biomarker of Clear Cell Renal Cell Carcinoma.

Alternative therapies in health and medicine
Clear renal cell carcinoma (ccRCC) is a common and deadly urinary system tumor. The TNM system determines treatment and prognosis based on cancer advancement. While nephron-sparing surgery is an option for localized ccRCC, advanced cases are challenging, and molecular-targeted therapy is crucial.Here, we implemented microarray datasets to identify a ...
Qian, Gao, Xia, Ye, Fei, Li
openaire   +1 more source