PubRank

Zsolt Urban

Author PubWeight™ 28.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2007 3.02
2 Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006 1.99
3 Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest 2008 1.86
4 GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet 2011 1.52
5 Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet 2009 1.40
6 Cutis laxa: a review. J Am Acad Dermatol 2012 1.32
7 Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet 2006 1.31
8 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat 2011 1.20
9 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat 2010 1.05
10 Molecular genetics of congenital diaphragmatic defects. Ann Med 2007 1.05
11 Distinct steps of cross-linking, self-association, and maturation of tropoelastin are necessary for elastic fiber formation. J Mol Biol 2007 1.02
12 Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5. J Biochem 2008 1.01
13 Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol 2006 1.00
14 Mechanisms of emphysema in autosomal dominant cutis laxa. Matrix Biol 2010 0.99
15 The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol 2012 0.97
16 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat 2012 0.93
17 Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet A 2005 0.89
18 Domains 16 and 17 of tropoelastin in elastic fibre formation. Biochem J 2007 0.89
19 Frontonasal dysplasia in 3H1 Br/Br mice. Anat Rec A Discov Mol Cell Evol Biol 2003 0.89
20 DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Clin Biochem 2009 0.89
21 Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med 2006 0.81
22 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 2012 0.81
23 A serial analysis of gene expression in sun-damaged human skin. J Invest Dermatol 2002 0.79
24 Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol 2011 0.77
25 A novel elastin gene mutation in a Vietnamese patient with cutis laxa. Pediatr Dermatol 2014 0.75