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Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies.
Kaw A, Pedroza AJ, Chattopadhyay A, Pinard A, Guo D, Kaw K, Zhou Z, Shad R, Fischbein MP, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: pinard a. J Mol Cell Cardiol. 2022 Oct;171:102-104. doi: 10.1016/j.yjmcc.2022.07.004. Epub 2022 Jul 22. J Mol Cell Cardiol. 2022. PMID: 35878552 Free PMC article. No abstract available.
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Odelin G, Faucherre A, Marchese D, Pinard A, Jaouadi H, Le Scouarnec S; FranceGenRef Consortium; Chiarelli R, Achouri Y, Faure E, Herbane M, Théron A, Avierinos JF, Jopling C, Collod-Béroud G, Rezsohazy R, Zaffran S. Odelin G, et al. Among authors: pinard a. Nat Commun. 2023 Mar 20;14(1):1543. doi: 10.1038/s41467-023-37110-x. Nat Commun. 2023. PMID: 36941270 Free PMC article.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM. Guo DC, et al. Among authors: pinard a. Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. Am J Hum Genet. 2018. PMID: 29625025 Free PMC article.
Genetics of Thoracic and Abdominal Aortic Diseases.
Pinard A, Jones GT, Milewicz DM. Pinard A, et al. Circ Res. 2019 Feb 15;124(4):588-606. doi: 10.1161/CIRCRESAHA.118.312436. Circ Res. 2019. PMID: 30763214 Free PMC article. Review.
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Pinard A, et al. Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474762 Free PMC article.
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA; University of Washington Center for Mendelian Genomics (UW-CMG); Bamshad MJ, Milewicz DM, Prakash SK. Musfee FI, et al. Among authors: pinard ac. Mol Genet Genomic Med. 2020 Oct;8(10):e1406. doi: 10.1002/mgg3.1406. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32748548 Free PMC article.
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Pinard A, Fiander MDJ, Cecchi AC, Rideout AL, Azouz M, Fraser SM, McNeely PD, Walling S, Novara SC, Hurst ACE, Guo D, Parkash S, Bamshad MJ, Nickerson DA, Vandersteen AM, Milewicz DM. Pinard A, et al. Neurology. 2021 Mar 30;96(13):e1783-e1791. doi: 10.1212/WNL.0000000000011653. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568546 Free PMC article.
Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.
Boerio ML, Engelhardt NM, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM. Boerio ML, et al. Among authors: pinard a. Circ Genom Precis Med. 2022 Dec;15(6):e003707. doi: 10.1161/CIRCGEN.122.003707. Epub 2022 Nov 9. Circ Genom Precis Med. 2022. PMID: 36350761 Free PMC article. No abstract available.
78 results