Associated Papers
Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.
Laghmani K
Cells, 2024
AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.
Frachon N et al.
Cells, 2024
Golgi Alpha1,2-Mannosidase IA Promotes Efficient Endoplasmic Reticulum-Associated Degradation of NKCC2.
Demaretz S et al.
Cells, 2021
New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.
Shaukat I et al.
Human Mutation, 2021
Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2.
Bakhos-Douaihy D et al.
International Journal of Molecular Sciences, 2021
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Han Y et al.
Endocrine, 2019
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.
Wongsaengsak S et al.
Bone, 2017
Genetic heterogeneity in patients with Bartter syndrome type 1.
Sun M et al.
Molecular Medicine Reports, 2017
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
Starremans PG et al.
Journal of the American Society of Nephrology : Jasn, 2003
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R et al.
American Journal of Human Genetics, 1998
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