Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S339fs
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CXCR4

NM_003467.3:p.S339fs

Associated Papers

Periodontal disease in patients with WHIM syndrome.

Brenchley L et al.

Journal of Clinical Periodontology, 2024

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.

McDermott DH et al.

The Journal of Clinical Investigation, 2023

37561579 (PubMed )
Supplement: jci-133-164918-s097.pdf

New genetic and epigenetic insights into the chemokine system: the latest discoveries aiding progression toward precision medicine.

Xu H et al.

Cellular & Molecular Immunology, 2023

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4.

Luo J et al.

The Journal of Biological Chemistry, 2022

Bone marrow involvement and subclonal diversity impairs detection of mutated CXCR4 by diagnostic next-generation sequencing in Waldenström macroglobulinaemia.

Gustine JN et al.

British Journal of Haematology, 2021

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.

Milanesi S et al.

International Journal of Molecular Sciences, 2020

New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.

Scala S et al.

Vaccines, 2020

TP53 mutations are associated with mutated MYD88 and CXCR4, and confer an adverse outcome in Waldenström macroglobulinaemia.

Gustine JN et al.

British Journal of Haematology, 2019

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.

Shin DW et al.

Annals of Laboratory Medicine, 2017

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization.

Freitas C et al.

The Journal of Experimental Medicine, 2017

Acquired mutations associated with ibrutinib resistance in Waldenström macroglobulinemia.

Xu L et al.

Blood, 2017

Clinical Validation of a CXCR4 Mutation Screening Assay for Waldenstrom Macroglobulinemia.

Ballester LY et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).

Liu Q et al.

Journal of Clinical Immunology, 2016

Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia.

Poulain S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Clonal architecture of CXCR4 WHIM-like mutations in Waldenström Macroglobulinaemia.

Xu L et al.

British Journal of Haematology, 2016

Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.

Treon SP et al.

Blood, 2014

WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.

Liu Q et al.

Blood, 2012

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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."