Associated Papers
Genetic variants in patients with multiple arterial aneurysms.
Körfer D et al.
Langenbeck's Archives of Surgery, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
ClC-K Kidney Chloride Channels: From Structure to Pathology.
Andrini O et al.
Handbook of Experimental Pharmacology, 2024
Small Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases.
Coppola MA et al.
Biomolecules, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan.
Imbrici P et al.
British Journal of Pharmacology, 2017
Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms.
Liantonio A et al.
Journal of Hypertension, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
Barlassina C et al.
Human Molecular Genetics, 2007
Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor.
Glenn CL et al.
Human Molecular Genetics, 2000
Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA.
Lin RC et al.
Human Mutation, 2000