Detalhe da pesquisa
1.
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.
Cell
; 168(6): 1053-1064.e15, 2017 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283061
2.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
PLoS Genet
; 17(7): e1009639, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232960
3.
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
Hum Mol Genet
; 29(24): 3882-3891, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355670
4.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
PLoS Genet
; 15(2): e1007917, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30707697
5.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 103(6): 930-947, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503522
6.
Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.
Am J Pathol
; 190(12): 2453-2463, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919980
7.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 104(2): 356, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735661
8.
Priming of the vascular endothelial growth factor signaling pathway by thrombospondin-1, CD36, and spleen tyrosine kinase.
Blood
; 117(17): 4658-66, 2011 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21378271
9.
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
Blood Cells Mol Dis
; 61: 46-7, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667165
10.
Thrombospondin-1 modulates vascular endothelial growth factor activity at the receptor level.
FASEB J
; 23(10): 3368-76, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528255
11.
The effect of thrombospondin-1 on breast cancer metastasis.
Breast Cancer Res Treat
; 114(1): 85-96, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18409060
12.
Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia.
Discoveries (Craiova)
; 7(3): e96, 2019 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32309614
13.
Integration of pro- and anti-angiogenic signals by endothelial cells.
J Cell Commun Signal
; 12(1): 171-179, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264709
14.
Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.
J Cancer
; 7(1): 32-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26722357
15.
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Cold Spring Harb Mol Case Stud
; 2(3): a000786, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148589
16.
Thrombospondin-1 Modulates Actin Filament Remodeling and Cell Motility in Mouse Mammary Tumor cells in Vitro.
Discoveries (Craiova)
; 2(4)2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26273699
17.
Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope.
J Biol Chem
; 278(38): 36707-17, 2003 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-12853457
18.
Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.
Exp Dermatol
; 11(5): 428-38, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12366696