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Genetic Imbalance in Patients with Cervical Artery Dissection.
CONCLUSION: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted. PMID: 28367076 [PubMed - in process]
Source: Current Genomics - April 4, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
Nature Genetics 47, 78 (2015). doi:10.1038/ng.3154 Authors: Stéphanie Debette, Yoichiro Kamatani, Tiina M Metso, Manja Kloss, Ganesh Chauhan, Stefan T Engelter, Alessandro Pezzini, Vincent Thijs, Hugh S Markus, Martin Dichgans, Christiane Wolf, Ralf Dittrich, Emmanuel Touzé, Andrew M Southerland, Yves Samson, Shérine Abboud, Yannick Béjot, Valeria Caso, Anna Bersano, Andreas Gschwendtner, Maria Sessa, John Cole, Chantal Lamy, Elisabeth Medeiros, Simone Beretta, Leo H Bonati, Armin J Grau, Patrik Michel, Jennifer J Majersik, Pankaj Sharma, Ludmila Kalashnikova, Maria Nazarova, Larisa Dobrynina, E...
Source: Nature Genetics - November 24, 2014 Category: Genetics & Stem Cells Authors: Stéphanie DebetteYoichiro KamataniTiina M MetsoManja KlossGanesh ChauhanStefan T EngelterAlessandro PezziniVincent ThijsHugh S MarkusMartin DichgansChristiane WolfRalf DittrichEmmanuel TouzéAndrew M SoutherlandYves SamsonShérine AbboudYannick BéjotVal Tags: Letter Source Type: research

Familial aortic disease and a large duplication in chromosome 16p13.1
ConclusionsThe cosegregation of duplication 16p13.1 with the aortic phenotype in this family suggested a causal relationship between the duplication and aortic disease. Variants in known candidate genes were excluded as disease‐causing in this family, but cosegregating variants in other genes might modify the contribution of duplication 16p13.1 on aortic disease. A recurrent duplication of chromosome 16p13.1 was associated with aortic and cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease.
Source: Molecular Genetics & Genomic Medicine - February 14, 2018 Category: Genetics & Stem Cells Authors: Philipp Erhart, Tobias Brandt, Beate K. Straub, Ingrid Hausser, Sabine Hentze, Dittmar B öckler, Caspar Grond‐Ginsbach Tags: CLINICAL REPORT Source Type: research

Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
Abstract Spontaneous cervical artery dissection (CeAD) is a major cause of ischemic stroke in young adults, whose genetic susceptibility factors are still largely unknown. Nevertheless, subtle ultrastructural connective tissue alterations (especially in the collagen fibril morphology) are recognized in a large proportion of CeAD patients, in which recent genetic investigations reported an enrichment of variants in genes associated with known connective tissue disorders. In this regard, COL5A1 variants have been reported in a small subset of CeAD patients, with or without classical Ehlers-Danlos syndrome (cEDS) fea...
Source: European Journal of Medical Genetics - November 12, 2020 Category: Genetics & Stem Cells Authors: Errichiello E, Malara A, Grimod G, Avolio L, Balduini A, Zuffardi O Tags: Eur J Med Genet Source Type: research