Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R et al.
Pediatric Nephrology (berlin, Germany), 2022
Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.
Xin Q et al.
Frontiers in Genetics, 2022
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
Genetic heterogeneity in patients with Bartter syndrome type 1.
Sun M et al.
Molecular Medicine Reports, 2017
Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.
Monette MY et al.
American Journal of Physiology. Renal Physiology, 2011
Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters.
Acuña R et al.
Journal of Hypertension, 2011
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.
Nozu K et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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