Detalhe da pesquisa
1.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
2.
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
J Allergy Clin Immunol
; 150(1): 223-228, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157921
3.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Eur J Hum Genet
; 31(7): 805-814, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059841
4.
Pro Nerve Growth Factor and Its Receptor p75NTR Activate Inflammatory Responses in Synovial Fibroblasts: A Novel Targetable Mechanism in Arthritis.
Front Immunol
; 13: 818630, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35309353
5.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Nat Commun
; 13(1): 6841, 2022 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369169
6.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
J Exp Med
; 216(12): 2778-2799, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31601675