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Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.
Teekakirikul P, Zhu W, Xu X, Young CB, Tan T, Smith AM, Wang C, Peterson KA, Gabriel GC, Ho S, Sheng Y, Moreau de Bellaing A, Sonnenberg DA, Lin JH, Fotiou E, Tenin G, Wang MX, Wu YL, Feinstein T, Devine W, Gou H, Bais AS, Glennon BJ, Zahid M, Wong TC, Ahmad F, Rynkiewicz MJ, Lehman WJ, Keavney B, Alastalo TP, Freckmann ML, Orwig K, Murray S, Ware SM, Zhao H, Feingold B, Lo CW. Teekakirikul P, et al. Among authors: gabriel gc. Cell Rep Med. 2022 Feb 15;3(2):100501. doi: 10.1016/j.xcrm.2021.100501. eCollection 2022 Feb 15. Cell Rep Med. 2022. PMID: 35243414 Free PMC article.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease.
Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR, Chang C, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A, Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW. Li Y, et al. Among authors: gabriel gc. Nature. 2015 May 28;521(7553):520-4. doi: 10.1038/nature14269. Epub 2015 Mar 25. Nature. 2015. PMID: 25807483 Free PMC article.
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
Li Y, Garrod AS, Madan-Khetarpal S, Sreedher G, McGuire M, Yagi H, Klena NT, Gabriel GC, Khalifa O, Zahid M, Panigrahy A, Weiner DJ, Lo CW. Li Y, et al. Among authors: gabriel gc. Am J Med Genet A. 2015 Sep;167A(9):2188-96. doi: 10.1002/ajmg.a.37133. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914204
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Guimier A, et al. Among authors: gabriel gc. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437028 Free PMC article.
Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.
Gibbs BC, Damerla RR, Vladar EK, Chatterjee B, Wan Y, Liu X, Cui C, Gabriel GC, Zahid M, Yagi H, Szabo-Rogers HL, Suyama KL, Axelrod JD, Lo CW. Gibbs BC, et al. Among authors: gabriel gc. Biol Open. 2016 Feb 16;5(3):323-35. doi: 10.1242/bio.015750. Biol Open. 2016. PMID: 26883626 Free PMC article.
The complex genetics of hypoplastic left heart syndrome.
Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, Peterson KA, Li Y, Schwartz MC, Reynolds WT, Saydmohammed M, Gibbs B, Wu Y, Devine W, Chatterjee B, Klena NT, Kostka D, de Mesy Bentley KL, Ganapathiraju MK, Dexheimer P, Leatherbury L, Khalifa O, Bhagat A, Zahid M, Pu W, Watkins S, Grossfeld P, Murray SA, Porter GA Jr, Tsang M, Martin LJ, Benson DW, Aronow BJ, Lo CW. Liu X, et al. Among authors: gabriel gc. Nat Genet. 2017 Jul;49(7):1152-1159. doi: 10.1038/ng.3870. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530678 Free PMC article.
The Genetic Landscape of Hypoplastic Left Heart Syndrome.
Yagi H, Liu X, Gabriel GC, Wu Y, Peterson K, Murray SA, Aronow BJ, Martin LJ, Benson DW, Lo CW. Yagi H, et al. Among authors: gabriel gc. Pediatr Cardiol. 2018 Aug;39(6):1069-1081. doi: 10.1007/s00246-018-1861-4. Epub 2018 Mar 22. Pediatr Cardiol. 2018. PMID: 29569026 Free PMC article.
43 results