Associated Papers
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Courdier C et al.
European Journal of Human Genetics : Ejhg, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Rab7a is an enhancer of TPC2 activity regulating melanoma progression through modulation of the GSK3β/β-Catenin/MITF-axis.
Abrahamian C et al.
Nature Communications, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 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
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
A novel gain of function mutation in TPC2 reiterates pH-pigmentation interplay: Emerging role of ionic homeostasis as a master pigmentation regulator.
Sharma N et al.
Cell Calcium, 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
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Electrophysiology of Endolysosomal Two-Pore Channels: A Current Account.
Patel S et al.
Cells, 2022
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Lona-Durazo F et al.
Communications Biology, 2021
Two-pore and TRPML cation channels: Regulators of phagocytosis, autophagy and lysosomal exocytosis.
Rosato AS et al.
Pharmacology & Therapeutics, 2021
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
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
On the structure and mechanism of two-pore channels.
Kintzer AF et al.
The Febs Journal, 2018
TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.
Chao YK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa.
Williams HL et al.
Human Reproduction (oxford, England), 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
DNA polymorphisms: what they are and their role in human pigmentation.
Kosmadaki MG et al.
Actas Dermo-sifiliograficas, 2009
Molecular genetics of human pigmentation diversity.
Sturm RA
Human Molecular Genetics, 2009
Two newly identified genetic determinants of pigmentation in Europeans.
Sulem P et al.
Nature Genetics, 2008