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
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
Inglês
| MEDLINE | ID: mdl-35157921
3.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31108500
4.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Hum Mol Genet
; 28(6): 1007-1022, 2019 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30481304
5.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29394990
6.
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.
Hum Mol Genet
; 25(17): 3824-3835, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27466182
7.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24556213
8.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Eur J Hum Genet
; 31(7): 805-814, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37059841
9.
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
Inglês
| MEDLINE | ID: mdl-35309353
10.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Nat Commun
; 13(1): 6841, 2022 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36369169
11.
Colocalization of the VEGF-R2 and the common IL-3/GM-CSF receptor beta chain to lipid rafts leads to enhanced p38 activation.
Br J Haematol
; 145(3): 399-411, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19245429
12.
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
J Exp Med
; 216(12): 2778-2799, 2019 12 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31601675
13.
Redox modulation of the apoptogenic activity of thapsigargin.
Ann N Y Acad Sci
; 1099: 469-72, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17446488
14.
Heart infarct in NOD-SCID mice: therapeutic vasculogenesis by transplantation of human CD34+ cells and low dose CD34+KDR+ cells.
FASEB J
; 18(12): 1392-4, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15231728
15.
Glutathione depletion up-regulates Bcl-2 in BSO-resistant cells.
FASEB J
; 18(13): 1609-11, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15289449
16.
GSH depletion enhances adenoviral bax-induced apoptosis in lung cancer cells.
Cancer Gene Ther
; 11(4): 249-55, 2004 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15002033
17.
Anti-apoptotic effect of HIV protease inhibitors via direct inhibition of calpain.
Biochem Pharmacol
; 66(8): 1505-12, 2003 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-14555228
18.
Autocrine role of angiopoietins during megakaryocytic differentiation.
PLoS One
; 7(7): e39796, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22792187
19.
Multiple mechanisms for hydrogen peroxide-induced apoptosis.
Ann N Y Acad Sci
; 1171: 559-63, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19723104
20.
The Italian National Centre for Rare Diseases: where research and public health translate into action.
Blood Transfus
; 12 Suppl 3: s591-605, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24922300