|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.
|
31808035 |
2020 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
|
28325561 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inclusion criteria for this review were: 1) Studies that analyzed the SLC12A3 gene in individuals with Type 2 Diabetes and Gitelman Syndrome.
|
31660880 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MATERIAL AND METHODS We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene.
|
31398183 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report a girl with GS with a paternally inherited heterozygous mutation in SLC12A3, and maternally inherited heterozygous variants in both CLCNKB and CLCNKA.
|
30999883 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report a 49-year-old woman with an acute swollen left knee due to acute pseudogout with chondrocalcinosis as a presenting feature of Gitelman syndrome due a novel homozygous mutation of the SLC12A3 gene.
|
30813745 |
2019 |
|
Gitelman Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Genetic test of SLC12A3 confirmed Gitelman syndrome.
|
30922139 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman syndrome (GS) is a rare autosomal recessive hereditary salt-losing tubulopathy caused by loss-of-function mutations in the SLC12A3 gene.
|
31577716 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A 76-year-old man received a live unrelated kidney transplant from a donor with known Gitelman syndrome secondary to a pathogenic mutation of SLC12A3.
|
30201548 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.
|
31506066 |
2019 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It should also be noted that single heterozygous SLC12A3 gene mutations can cause disease symptoms and other genetic mutations might be involved in the pathogenesis of GS.
|
29808706 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This case is the first to report a homozygous mutation in the 841th nucleotide of exon 6 on the SLC12A3 gene (p.Trp281Arg), which may cause Gitelman syndrome.
|
30340552 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation was discussed in the context of the functionally characterized NCC mutations causing Gitelman's syndrome, which fit into five classes.
|
29925901 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of these two novel pathogenic variants of SLC12A3 and their contribution to GS.
|
29378538 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the SLC12A3 gene identified 2 mutations in the 16-year old male patient with GS concomitant with Graves disease (GD) and his younger sister accompanied by abnormal thyroid function.
|
30084681 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We reported a case of GS with a novel homozygous frame-shift mutation of SLC12A3, and reviewed recent literatures about diagnosis, differential diagnosis and treatments.
|
30558554 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis identified SCN5A H558R polymorphism, which modulates the function of myocardial sodium channel, and SLC12A3 A588V mutation, which causes GS.
|
30305584 |
2018 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman syndrome (GS) is a rare autosomal recessive disease caused by loss-of-function mutations in the SLC12A3 gene, and is characterized by hypokalemia and metabolic alkalosis.
|
27216017 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
|
26306968 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
|
28685938 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.
|
26825084 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.
|
28446151 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c.1669+297 T>G that created a new acceptor splice site.
|
27784896 |
2017 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which is caused by the mutations in SLC12A3.
|
27529443 |
2016 |
|
Gitelman Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Since mutations in the SLC12A3 and CLCNKB genes are not present in all patients with clinical manifestations of Gitelman syndrome, genetic screening after clinical diagnosis is essential.
|
27173320 |
2016 |