Results 141 to 150 of about 10,292,350 (166)
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Journal of Genetics, 2019
Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the SLC12A3 gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy due to compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene
Vassos Neocleous +2 more
exaly +5 more sources
Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the SLC12A3 gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy due to compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene
Vassos Neocleous +2 more
exaly +5 more sources
Journal of Endocrinological Investigation, 2016
Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. In this study, we reported a case of GS pedigree and reviewed pertinent literature so as to explore the relationship between clinical
Li Tang, Luming Huang
exaly +4 more sources
Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. In this study, we reported a case of GS pedigree and reviewed pertinent literature so as to explore the relationship between clinical
Li Tang, Luming Huang
exaly +4 more sources
A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome
Endocrine, 2019Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC).
Xin Wang, Yu Ding, Qi Liu, Guo-Can Yang
semanticscholar +3 more sources
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.Sanger sequencing has revealed that the proband has carried
Qian, Ma +3 more
openaire +1 more source
To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.Sanger sequencing has revealed that the proband has carried
Qian, Ma +3 more
openaire +1 more source
Endocrine Practice, 2018
OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive disorder characterized by salt wasting and hypokalemia resulting from mutations in the SLC12A3 (solute carrier family 12 member 3) gene, which encodes the thiazide-sensitive sodium-chloride ...
Si-Mo Liu +5 more
semanticscholar +1 more source
OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive disorder characterized by salt wasting and hypokalemia resulting from mutations in the SLC12A3 (solute carrier family 12 member 3) gene, which encodes the thiazide-sensitive sodium-chloride ...
Si-Mo Liu +5 more
semanticscholar +1 more source
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 +2 more
openaire +2 more sources
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 +2 more
openaire +2 more sources
A novel missense mutation in SLC12A3 gene in two siblings with Gitelman syndrome
2022Tayfur, A. C., Meral, Z., & Yoldas, M. A. (2022, November). A NOVEL MISSENSE MUTATION IN SLC12A3 GENE IN TWO SIBLINGS WITH GITELMAN SYNDROME. In PEDIATRIC NEPHROLOGY (Vol. 37, No. 11, pp. 2943-2944).
Tayfur, Aslı Çelebi +2 more
openaire +1 more source
Chinese Journal of Integrative Medicine, 2016
To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions.In order to locate the two GS mutations, samples were collected from 11 people from two different pedigrees for direct genetic sequencing and comparison of the 26 exons of SLC12A3. Furthermore, the change of
Jie-Wei, Luo +6 more
openaire +2 more sources
To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions.In order to locate the two GS mutations, samples were collected from 11 people from two different pedigrees for direct genetic sequencing and comparison of the 26 exons of SLC12A3. Furthermore, the change of
Jie-Wei, Luo +6 more
openaire +2 more sources
Novel SLC12A3 Gene Mutations and Clinical Characteristics in Two Pedigrees With Gitelman Syndrome
Clinical Endocrinology, 2023Qiao Ying, Fei He, Zhinan Ye
exaly
A Novel Compound Heterozygous Mutation of SLC12A3 Gene in a Chinese Pedigree With Gitelman Syndrome
Endocrine, 2020Yu Ding
exaly