Detalhe da pesquisa
1.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet
; 102(4): 685-695, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576219
2.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
J Inherit Metab Dis
; 43(6): 1382-1391, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418222
3.
Loss of skin elasticity is associated with pulmonary emphysema, biomarkers of inflammation, and matrix metalloproteinase activity in smokers.
Respir Res
; 20(1): 128, 2019 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31234847
4.
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
5.
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
6.
A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
Pediatr Dermatol
; 31(3): 347-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24758204
7.
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
8.
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
9.
The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.
Exp Dermatol
; 22(2): 88-92, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23088642
10.
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
11.
Cutis laxa: a review.
J Am Acad Dermatol
; 66(5): 842.e1-17, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387031
12.
JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency.
J Clin Invest
; 132(5)2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34990407
13.
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
Hum Mutat
; 32(4): 445-55, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309044
14.
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hum Mol Genet
; 18(12): 2149-65, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19321599
15.
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
J Clin Invest
; 118(5): 1606-15, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18452001
16.
LTBP4 in Health and Disease.
Genes (Basel)
; 12(6)2021 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071145
17.
LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
Cell Death Dis
; 12(10): 943, 2021 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645813
18.
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Hum Mutat
; 31(5): 594-601, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20437614
19.
Exploring the Paradoxical Relationship of a Creb 3 Regulatory Factor Missense Variant With Body Mass Index and Diabetes Among Samoans: Protocol for the Soifua Manuia (Good Health) Observational Cohort Study.
JMIR Res Protoc
; 9(7): e17329, 2020 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706746
20.
Distinct steps of cross-linking, self-association, and maturation of tropoelastin are necessary for elastic fiber formation.
J Mol Biol
; 369(3): 841-51, 2007 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-17459412