Detalhe da pesquisa
1.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
2.
Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans.
Circ Res
; 123(6): 660-672, 2018 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30355232
3.
Loss of Smooth Muscle α-Actin Leads to NF-κB-Dependent Increased Sensitivity to Angiotensin II in Smooth Muscle Cells and Aortic Enlargement.
Circ Res
; 120(12): 1903-1915, 2017 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461455
4.
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma.
Nature
; 503(7474): 126-30, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24107997
5.
Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.
Hum Mol Genet
; 24(20): 5867-79, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220971
6.
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.
Hum Mol Genet
; 24(14): 4024-36, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882708
7.
Function of latent TGFß binding protein 4 and fibulin 5 in elastogenesis and lung development.
J Cell Physiol
; 230(1): 226-36, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24962333
8.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet
; 22(1): 1-17, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949511
9.
Angiopoietin-1 enhances skeletal muscle regeneration in mice.
Am J Physiol Regul Integr Comp Physiol
; 308(7): R576-89, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608750
10.
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFß signaling.
Hum Mol Genet
; 21(6): 1248-59, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22116938
11.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nat Genet
; 37(3): 275-81, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15731757
12.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Hum Mutat
; 34(1): 111-21, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829427
13.
The phosphatase PTP-PEST/PTPN12 regulates endothelial cell migration and adhesion, but not permeability, and controls vascular development and embryonic viability.
J Biol Chem
; 287(51): 43180-90, 2012 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23105101
14.
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
J Biol Chem
; 287(26): 22055-67, 2012 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22573328
15.
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet
; 86(4): 551-9, 2010 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20362275
16.
Airway hyperresponsiveness is associated with airway remodeling but not inflammation in aging Cav1-/- mice.
Respir Res
; 14: 110, 2013 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24138138
17.
Novel mechanism of aortic aneurysm development in mice associated with smoking and leukocytes.
Arterioscler Thromb Vasc Biol
; 32(12): 2901-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23042818
18.
Transforming growth factor-ß signaling in myogenic cells regulates vascular morphogenesis, differentiation, and matrix synthesis.
Arterioscler Thromb Vasc Biol
; 32(1): e1-11, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21979435
19.
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
Am J Hum Genet
; 85(5): 593-605, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836010
20.
CEACAM1: a key regulator of vascular permeability.
J Cell Sci
; 123(Pt 24): 4221-30, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21081647