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A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.

作者信息

Zmajkovicova Katarina, Pawar Sumit, Sharapova Svetlana O, Geier Christoph B, Wiest Ivana, Nguyen Chi, Monticelli Halenya, Maier-Munsa Sabine, Chen Kelly, Sleasman John W, Aleshkevich Svetlana, Polyakova Ekaterina, Sakovich Inga, Warnatz Klaus, Grimbacher Bodo, Proietti Michele, Sondheimer Neal, Ujhazi Boglarka, Gordon Sumai, Ellison Maryssa, Yilmaz Melis, Walter Jolan E, Badarau Adriana, Taveras Arthur G, Neff Jadee L, Bledsoe Jacob R, Tarrant Teresa K

机构信息

X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.

Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria.

出版信息

Blood Adv. 2024 Jul 23;8(14):3754-3759. doi: 10.1182/bloodadvances.2023011875.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bf8/11296240/484804810a70/BLOODA_ADV-2023-011875-gr1.jpg

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本文引用的文献

1
Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4 variants.
Genes Immun. 2022 Sep;23(6):196-204. doi: 10.1038/s41435-022-00181-9. Epub 2022 Sep 12.
2
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10.
3
Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.
Blood. 2020 Dec 24;136(26):2994-3003. doi: 10.1182/blood.2020007197.
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Common activation mechanism of class A GPCRs.
Elife. 2019 Dec 19;8:e50279. doi: 10.7554/eLife.50279.
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WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
J Clin Immunol. 2019 Aug;39(6):532-556. doi: 10.1007/s10875-019-00665-w. Epub 2019 Jul 16.
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Enhanced Bone Marrow Homing of Natural Killer Cells Following mRNA Transfection With Gain-of-Function Variant CXCR4.
Front Immunol. 2019 Jun 5;10:1262. doi: 10.3389/fimmu.2019.01262. eCollection 2019.
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Allosteric Na-binding site modulates CXCR4 activation.
Phys Chem Chem Phys. 2018 Oct 3;20(38):24915-24920. doi: 10.1039/c8cp04134b.
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CXCR4, the master regulator of neutrophil trafficking in homeostasis and disease.
Eur J Clin Invest. 2018 Nov;48 Suppl 2(Suppl Suppl 2):e12949. doi: 10.1111/eci.12949. Epub 2018 May 23.
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Universality of the Sodium Ion Binding Mechanism in Class A G-Protein-Coupled Receptors.
Angew Chem Int Ed Engl. 2018 Mar 12;57(12):3048-3053. doi: 10.1002/anie.201708889. Epub 2018 Feb 22.
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Structural biology. Crystal structure of the chemokine receptor CXCR4 in complex with a viral chemokine.
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