Associated Papers
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Courdier C et al.
European Journal of Human Genetics : Ejhg, 2025
Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.
Kondratskyi A et al.
Bioelectricity, 2025
Structural basis for inhibition of the lysosomal two-pore channel TPC2 by a small molecule antagonist.
Chi G et al.
Structure (london, England : 1993), 2024
Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population.
Binobaid L et al.
Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
38450374 (PubMed )
Supplement: Table9.xls › Sheet2
P-selectin-dependent leukocyte adhesion is governed by endolysosomal two-pore channel 2.
Goretzko J et al.
Cell Reports, 2023
A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.
Wang Q et al.
Nature Communications, 2023
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
Böck J et al.
Plos Genetics, 2021
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Genome-wide detection of allelic gene expression in hepatocellular carcinoma cells using a human exome SNP chip.
Park YM et al.
Gene, 2014
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