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Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.
Saw J, Yang ML, Trinder M, Tcheandjieu C, Xu C, Starovoytov A, Birt I, Mathis MR, Hunker KL, Schmidt EM, Jackson L, Fendrikova-Mahlay N, Zawistowski M, Brummett CM, Zoellner S, Katz A, Coleman DM, Swan K, O'Donnell CJ; Million Veteran Program, Zhou X, Li JZ, Gornik HL, Assimes TL, Stanley JC, Brunham LR, Ganesh SK. Saw J, et al. Among authors: hunker kl. Nat Commun. 2020 Sep 4;11(1):4432. doi: 10.1038/s41467-020-17558-x. Nat Commun. 2020. PMID: 32887874 Free PMC article.
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Among authors: hunker kl. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213
The in vivo endothelial cell translatome is highly heterogeneous across vascular beds.
Cleuren ACA, van der Ent MA, Jiang H, Hunker KL, Yee A, Siemieniak DR, Molema G, Aird WC, Ganesh SK, Ginsburg D. Cleuren ACA, et al. Among authors: hunker kl. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23618-23624. doi: 10.1073/pnas.1912409116. Epub 2019 Nov 11. Proc Natl Acad Sci U S A. 2019. PMID: 31712416 Free PMC article.
Grxcr2 is required for stereocilia morphogenesis in the cochlea.
Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC. Avenarius MR, et al. Among authors: hunker kl. PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone.0201713. eCollection 2018. PLoS One. 2018. PMID: 30157177 Free PMC article.
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A, Albuisson J, Berrandou T, Dupré D, Lorthioir A, D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chédid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Georges A, et al. Among authors: hunker k. Cardiovasc Res. 2021 Mar 21;117(4):1154-1165. doi: 10.1093/cvr/cvaa161. Cardiovasc Res. 2021. PMID: 32531060 Free PMC article.
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Kiando SR, et al. Among authors: hunker k. PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27792790 Free PMC article.
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, Van Eyk J, McDonnell NB. Ganesh SK, et al. Among authors: hunker k. FASEB J. 2014 Aug;28(8):3313-24. doi: 10.1096/fj.14-251207. Epub 2014 Apr 14. FASEB J. 2014. PMID: 24732132 Free PMC article.
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.
Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Odeh H, et al. Among authors: hunker kl. Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137774 Free PMC article.