Associated Papers
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
Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population.
Hu Y et al.
Bmc Cardiovascular Disorders, 2023
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
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.
Nuñez-Gonzalez L et al.
International Journal of Molecular Sciences, 2021
Genetic predictors of sick sinus syndrome.
Timasheva Y et al.
Molecular Biology Reports, 2021
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
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
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
ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
Poroca DR et al.
Frontiers in Pharmacology, 2017
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
CLC channel function and dysfunction in health and disease.
Stölting G et al.
Frontiers in Physiology, 2014
A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort.
Tavira B et al.
Gene, 2013
Cell biology and physiology of CLC chloride channels and transporters.
Stauber T et al.
Comprehensive Physiology, 2012
Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.
Cappola TP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011