Below are the most recent publications written about "Dystrophin" by people in Profiles.
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Nigam P, Fitzgerald KK, Scavina M, Tsuda T. Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era. Pediatr Cardiol. 2025 Feb; 46(2):267-278.
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Gruber D, Lloyd-Puryear M, Armstrong N, Scavina M, Tavakoli NP, Brower AM, Caggana M, Chung WK. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet. 2022 06; 190(2):197-205.
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Gambetta KE, McCulloch MA, Lal AK, Knecht K, Butts RJ, Villa CR, Johnson JN, Conway J, Bock MJ, Schumacher KR, Law SP, Friedland-Little JM, Deshpande SR, West SC, Lytrivi ID, Wittlieb-Weber CA. Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. Pediatr Cardiol. 2022 Apr; 43(4):855-867.
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Bauer R, Enns H, Jungmann A, Leuchs B, Volz C, Schinkel S, Koch WJ, Raake PW, Most P, Katus HA, M?ller OJ. Various effects of AAV9-mediated ?ARKct gene therapy on the heart in dystrophin-deficient (mdx) mice and d-sarcoglycan-deficient (Sgcd-/-) mice. Neuromuscul Disord. 2019 03; 29(3):231-241.
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Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J Hum Genet. 2015 Mar; 60(3):151-5.
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Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L. Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients. J Trop Pediatr. 2014 Apr; 60(2):112-7.
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Palladino M, Gatto I, Neri V, Straino S, Smith RC, Silver M, Gaetani E, Marcantoni M, Giarretta I, Stigliano E, Capogrossi M, Hlatky L, Landolfi R, Pola R. Angiogenic impairment of the vascular endothelium: a novel mechanism and potential therapeutic target in muscular dystrophy. Arterioscler Thromb Vasc Biol. 2013 Dec; 33(12):2867-76.
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Acharyya S, Butchbach ME, Sahenk Z, Wang H, Saji M, Carathers M, Ringel MD, Skipworth RJ, Fearon KC, Hollingsworth MA, Muscarella P, Burghes AH, Rafael-Fortney JA, Guttridge DC. Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell. 2005 Nov; 8(5):421-32.
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Asano J, Tomatsu S, Sukegawa K, Ikedo Y, Minami R, Iida M, Nishimura M, Nakagawa M, Ohshiro M, Orii T. Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection. Clin Genet. 1991 Jun; 39(6):419-24.