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1.
Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.
J Clin Immunol
; 44(1): 27, 2023 12 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38129328
2.
SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity.
Proc Natl Acad Sci U S A
; 114(11): E2176-E2185, 2017 03 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-28265073
3.
Syntaxin 4 mediates endosome recycling for lytic granule exocytosis in cytotoxic T-lymphocytes.
Traffic
; 18(7): 442-452, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28471021
4.
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Blood
; 125(10): 1566-77, 2015 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25564401
5.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
J Crohns Colitis
; 15(11): 1908-1919, 2021 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33891011
6.
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Front Immunol
; 11: 545414, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33162974
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