Associated Papers
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E et al.
The Journal of Experimental Medicine, 2025
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
Hytönen MK et al.
Plos Genetics, 2025
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui J et al.
European Journal of Neurology, 2024
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A et al.
Science Advances, 2024
Type 3 IP3 receptor: Its structure, functions, and related disease implications.
Wu L et al.
Channels (austin, Tex.), 2023
Point mutations in the gene encoding IP3 receptor subtype 3 cause impairment in T-cell and B-cell immune responses via dysfunctional Ca2+ mobilization.
Nadeem A et al.
Cellular & Molecular Immunology, 2023
Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J et al.
Cellular & Molecular Immunology, 2023
Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky Ca2+ channels and activation of store-operated Ca2+ entry.
Terry LE et al.
Iscience, 2022
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
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-A0EM-01A.domain
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