Article
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
JAMA network open - 1 Apr 2024
Aloui Chaker, Neumann Lisa, Bergametti Françoise, Sartori Eric, Herbreteau Marc, Maillard Arnaud, Coste Thibault, Morel Hélène, Hervé Dominique, Chabriat Hugues, Timsit Serge, Viakhireva Irina, Denoyer Yves, Allibert Rémi, Demurger Florence, Gollion Cedric, Vermersch Patrick, Marchelli Florence, Blugeon Corinne, Lemoine Sophie, Tourtier-Bellosta Claire, Brouazin Alexis, Leutenegger Anne-Louise, Pipiras Eva, Tournier-Lasserve Elisabeth
Abstract excerpt
Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes. Objective: To identify novel genes and mechanisms associated with familial CSVD. Design, Setting, and Participants: This 2-stage study involved linkage analysis and a case-control study; linkage analysis and whole exome and genome...
Topics
- Adult
- Female
- Humans
- Middle Aged
- 3' Untranslated Regions
- Alleles
- Case-Control Studies
- Cerebral Small Vessel Diseases
- Collagen Type IV