CRISPR-Cas9-Mediated Correction of SLC12A3 Gene Mutation Rescues the Gitelman's Disease Phenotype in a Patient-Derived Kidney Organoid System. [PDF]
Int J Mol Sci, 2023 The aim of this study is to explore the possibility of modeling Gitelman’s disease (GIT) with human-induced pluripotent stem cell (hiPSC)-derived kidney organoids and to test whether gene correction using CRISPR/Cas9 can rescue the disease phenotype of ...
Lim SW +9 more
europepmc +2 more sources
A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome. [PDF]
Electrolyte Blood Press, 2016 A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria.
Kim Y +5 more
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A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene. [PDF]
Nefrología (English Edition), 2016 INTRODUCTION Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. MATERIAL AND METHODS A 26-year-old man was admitted to the hospital due to syncope with general and muscular ...
W. Wołyniec +7 more
semanticscholar +13 more sources
Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review. [PDF]
Front GenetA 36-year-old unmarried male chef was incidentally diagnosed with hypokalemia during an evaluation for an acute perianal abscess. Despite potassium supplementation, he developed progressive weakness in his lower limbs, culminating in an inability to ...
Ji X, Zhao N, Liu H, Wu Y, Liu L.
europepmc +2 more sources
Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene. [PDF]
Intern Med, 2021 The eligibility for kidney donation and long-term post-donation renal prognosis of patients with Gitelman syndrome (GS) are unknown. We herein report a 44-year-old woman with GS who donated her kidney for transplant.
Kamejima S +5 more
europepmc +2 more sources
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome [PDF]
Nephrology Dialysis Transplantation, 2008 Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound heterozygous. However, up to 30% of GS patients carry only a single mutant allele, and a normal SLC12A3 screening is also observed in a small ...
Riveira-Munoz, E. +10 more
openaire +3 more sources
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 +9 more
doaj +2 more sources
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. [PDF]
J Am Soc Nephrol, 2015 A variety of genetic backgrounds cause the loss of function of thiazide-sensitive sodium chloride cotransporter, encoded by SLC12A3, responsible for the phenotypes in Gitelman syndrome. Recently, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been associated with various diseases.
Takeuchi Y +13 more
europepmc +5 more sources
Frontiers in Genetics, 2022 The SLC12A3 (Solute carrier family 12 member 3) gene encodes a sodium-chloride cotransporter and mediates Na+ and Cl− reabsorption in the distal convoluted tubule of kidneys.
Nan Li, Harvest F. Gu
doaj +3 more sources
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry [PDF]
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
doaj +6 more sources