Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Intraline genomic heterogeneity of the triple-negative breast cancer MDA-MB-231-luc-GFP cell line.
Varela-Rouco N et al.
Computational and Structural Biotechnology Journal, 2025
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.
Marcos González S et al.
Biomedicines, 2023
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
The evolutionary background and functional consequences of the rs2071307 polymorphism in human tropoelastin.
Reichheld SE et al.
Biopolymers, 2021
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.
Bogari NM et al.
Frontiers in Genetics, 2020
Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.
Hong EP et al.
Journal of Clinical Medicine, 2019
Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans.
Jeon JP et al.
Neurologia Medico-chirurgica, 2018
Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach.
Paterakis K et al.
The International Journal of Neuroscience, 2017
Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.
Tanisawa K et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Delio M et al.
American Journal of Medical Genetics. Part A, 2013
Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.
He D et al.
Plos One, 2012
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.
Cho MH et al.
American Journal of Respiratory Cell and Molecular Biology, 2009
Smoking confers a MTHFR 677C>T genotype-dependent risk for systemic atherosclerosis: results from a large number of elderly autopsy cases that died in a community-based general geriatric hospital.
Sawabe M et al.
Journal of Atherosclerosis and Thrombosis, 2009
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Tassabehji M et al.
Methods in Molecular Medicine, 2006
Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences.
Krex D et al.
Cerebrovascular Diseases (basel, Switzerland), 2004
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
Urbán Z et al.
Human Genetics, 2001
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
Pierquin G et al.
Journal De Genetique Humaine, 1988