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Elastin Gene Mutations: Mechanisms Causing SVAS and ADCL

Funding type: research
Funder scheme: R01
Start date: 2002-09-30
End date: 2007-08-31
Investigator: ZSOLT URBAN
Institution: WASHINGTON UNIVERSITY
Funded outputs count: 13
Funder award ID: R01HL073703
OpenAlex ID: G253177987
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm
2016 · Anne Marie Jelsig, Zsolt Urban, et al. · European Journal of Medical Genetics · 26
Cutis laxa: A review
2012 · David R. Berk, Danette D. Bentley, et al. · Journal of the American Academy of Dermatology · 225
Mechanisms of emphysema in autosomal dominant cutis laxa
2010 · Qirui Hu, Adrian Shifren, et al. · Matrix Biology · 32
DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner
2009 · Risa Nonaka, Satoshi Onoue, et al. · Clinical Biochemistry · 22
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
2007 · E Morava, D J Lefeber, et al. · European Journal of Human Genetics · 79
Domains 16 and 17 of tropoelastin in elastic fibre formation
2007 · Hiroshi Wachi, Fumiaki Sato, et al. · Biochemical Journal · 29
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Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
2006 · Qirui Hu, Bart L. Loeys, et al. · Human Molecular Genetics · 93
Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis
2006 · May Tassabehji, Zsolt Urban · Humana Press eBooks · 16
Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
2006 · Vishwanathan Hucthagowder, Nina Sausgruber, et al. · The American Journal of Human Genetics · 312
Inflammatory Destruction of Elastic Fibers in Acquired Cutis Laxa Is Associated with Missense Alleles in the Elastin and Fibulin-5 Genes
2005 · Qirui Hu, Jean-Louis Reymond, et al. · Journal of Investigative Dermatology · 78
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Sensorineural hearing loss in children and adults with Williams syndrome
2005 · Jeffrey A. Marler, Jill L. Elfenbein, et al. · American Journal of Medical Genetics Part A · 68
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
2005 · Z Szabo, M W Crepeau, et al. · Journal of Medical Genetics · 156
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Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin
2005 · Zsolt Urban, Jimin Gao, et al. · Journal of Investigative Dermatology · 109
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