Results 171 to 180 of about 7,281,051 (191)
Some of the next articles are maybe not open access.
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
Q. Lü +8 more
semanticscholar +3 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
Q. Lü +8 more
semanticscholar +3 more sources
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
DNA sequence : the journal of DNA sequencing and mapping, 2007Gitelman'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 +10 more
openaire +3 more sources
CRISPR/Cas9-based SLC12A3 gene knock in: a model for cellular feature analysis in Gitelman syndrome.
Kidney Research and Clinical PracticeBackground This study aims to investigate the effects of complete SLC12A3 gene knock-in using clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) in human-induced pluripotent stem cells (hiPSCs), focusing
S. Lim +8 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
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
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
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
Endocrine, 2007
Gitelman's syndrome is an autosomal recessive disorder marked by salt wasting and hypokalaemia resulting from loss-of-function mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na-Cl cotransporter. Gitelman's syndrome is usually distinguished from Bartter's syndrome by the presence of both hypomagnesaemia and hypocalciuria.
Noriko, Aoi +11 more
openaire +2 more sources
Gitelman's syndrome is an autosomal recessive disorder marked by salt wasting and hypokalaemia resulting from loss-of-function mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na-Cl cotransporter. Gitelman's syndrome is usually distinguished from Bartter's syndrome by the presence of both hypomagnesaemia and hypocalciuria.
Noriko, Aoi +11 more
openaire +2 more sources
Novel SLC12A3 Gene Mutations and Clinical Characteristics in Two Pedigrees with Gitelman Syndrome
Clinical Endocrinology, 2023qiao ying, fei he
exaly