Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.G159R
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IKZF3

NM_012481.5:p.G159R

Associated Papers

H195Y mutation of IKZF3 identified in a mouse model of precursor B cell acute lymphoblastic leukemia impairs transcriptional repression activity and increases protein stability.

Rysan H et al.

Journal of Leukocyte Biology, 2026

IKAROS regulates human T cell phenotype at a thymic and postthymic level.

Stoddard J et al.

Jci Insight, 2025

A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.

Okuyama K et al.

Nature Immunology, 2024

Aiolos promotes CXCR3 expression on Th1 cells via positive regulation of IFN-γ/STAT1 signaling.

Leonard MR et al.

Jci Insight, 2024

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M et al.

Journal of Clinical Immunology, 2024

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.

Shi X et al.

Journal of Clinical Immunology, 2024

IKZF3/Aiolos H195Y mutation identified in a mouse model of B cell leukemia results in altered DNA binding and altered STAT5-dependent gene expression.

Rodrigues de Oliveira B et al.

Gene, 2024

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.

Kuehn HS et al.

The Journal of Clinical Investigation, 2024

A Rare AIOLOS N160S Variant Causing IEI in Human.

Özdemir Ö et al.

Journal of Clinical Immunology, 2024

Inborn errors of human B cell development, differentiation, and function.

Tangye SG et al.

The Journal of Experimental Medicine, 2023

Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function.

Chang J et al.

Frontiers in Immunology, 2023

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M et al.

Frontiers in Immunology, 2022

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Kuehn HS et al.

The Journal of Experimental Medicine, 2021

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

Yamashita M et al.

Nature Immunology, 2021

IKZF1/3 and CRL4CRBN E3 ubiquitin ligase mutations and resistance to immunomodulatory drugs in multiple myeloma.

Barrio S et al.

Haematologica, 2020

N160 of Aiolos Determines its DNA-Binding Activity.

Wang H et al.

Anatomical Record (hoboken, N.j. : 2007), 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."