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ProteomicsA de novo mutation in /ITPR3/ causes combined immunodeficiency
This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified in both families a /de novo/ missense variant in /ITPR3/ (NM_002224.3:c.7570C>T, p.Arg2524Cys). While the mRNA level in patients remained...
ORGANISM(S): Homo sapiens (Human) 
2024-06-18 | PXD038284 | Pride
Shotgun proteomics Rnaseq Itpr3 mutation Immunophenotying 
GenomicsA de novo mutation in ITPR3 causes severe combined immunodeficiency
A de novo mutation in ITPR3 causes severe combined immunodeficiency
PRJEB58049 | ENA
TranscriptomicsA de novo mutation in ITPR3 causes severe combined immunodeficiency
This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified a single de novo missense variant in ITPR3 (NM_002224.3:c.7570C>T, p.Arg2524Cys) in both index cases. While the mRNA level in patients re...
ORGANISM(S): Homo sapiens 
2023-01-02 | E-MTAB-12432 | biostudies-arrayexpress
GenomicsRNA transcript changes in Itpr3 p.R2523C Effector Memory CD4+ T cells
RNA transcript changes in Itpr3 p.R2523C Effector Memory CD4+ T cells
PRJNA1468655 | ENA
TranscriptomicsRNA transcript changes in Itpr3 p.R2523C Effector Memory CD4+ T cells
Mutations in inositol trisphosphate receptor type 3 (ITPR3) have been linked to immunodeficiency, including an expansion of effector memory (EM) CD4+ T cells within peripheral tissues. We developed a mouse model that genocopied a single allelic (p.R2524C) ITPR3 mutation found in humans.
ORGANISM(S): Mus musculus 
2026-05-21 | GSE332595 | GEO
UnknownTaste dysfunction in BTBR mice due to a mutation of Itpr3, the inositol triphosphate receptor 3 gene.
Not available
S-EPMC3783815 | biostudies-literature
Genomics
A de novo mutation in ITPR3 causes severe combined immunodeficiency
PRJNA913788 | ENA
UnknownMacronutrient choice of BTBR.NZW mice congenic for a 21-gene region of chromosome 17.
Not available
S-EPMC3348969 | biostudies-literature
UnknownType 3 inositol 1,4,5-trisphosphate receptor is dispensable for sensory activation of the mammalian vomeronasal organ.
Not available
S-EPMC5579292 | biostudies-literature
UnknownWhole Genome Sequencing Reveals the Effects of Recent Artificial Selection on Litter Size of Bamei Mutton Sheep.
Not available
S-EPMC7827510 | biostudies-literature
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