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Circulation Research|May 3, 2017
Loss of Smooth Muscle α-Actin Leads to NF-κB-Dependent Increased Sensitivity to Angiotensin II in Smooth Muscle Cells and Aortic EnlargementJiyuan Chen, Andrew Peters, Christina L Papke, et al.American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.Nature Genetics|February 26, 2005
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Bart L Loeys, Junji Chen, Enid R Neptune, et al.Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.Cardiovascular Research|June 23, 2018
Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulationIngrid van der Pluijm, Joyce Burger, Paula M van Heijningen, et al.Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.American Journal of Human Genetics|November 9, 2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.Pageof 7