PMC Links for Protein (Select 5032315) - PMC

Select item 69813231.

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino

Hum Genet. 2020; 139(2): 247–255. Published online 2020 Jan 9. doi: 10.1007/s00439-019-02107-4

PMCID:: PMC6981323

Abstract Article PDF–833K

Select item 69514102.

Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

Khine Zaw, Kane Greer, May Thandar Aung-Htut, Chalermchai Mitrpant, Rakesh N. Veedu, Sue Fletcher, Steve D. Wilton

Front Genet. 2019; 10: 1249. Published online 2019 Dec 20. doi: 10.3389/fgene.2019.01249

PMCID:: PMC6951410

Abstract Article PDF–1.4M

Select item 68959153.

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García

Genes (Basel) 2019 Nov; 10(11): 856. Published online 2019 Oct 29. doi: 10.3390/genes10110856

PMCID:: PMC6895915

Abstract Article PDF–783K

Select item 492884.

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

D Lederfein, Z Levy, N Augier, D Mornet, G Morris, O Fuchs, D Yaffe, U Nudel

Proc Natl Acad Sci U S A. 1992 Jun 15; 89(12): 5346–5350. doi: 10.1073/pnas.89.12.5346

PMCID:: PMC49288

Summary Page Browse PDF–1016K

Select item 66769095.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Gloria T. Haskell, Brian C. Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R. Tilley, Yurong Lu, Daniel S. Marchuk, Leigh Ann Samsa, Kirk C. Wilhelmsen, Ethan Lange, Cam Patterson, James P. Evans, Jonathan S. Berg

J Heart Valve Dis. Author manuscript; available in PMC 2019 Aug 2.

Published in final edited form as: J Heart Valve Dis. 2017 Sep; 26(5): 569–580.

PMCID:: PMC6676909

Abstract Article PDF–1.8M

Select item 43838616.

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Janelle M. Spinazzola, Tara C. Smith, Min Liu, Elizabeth J. Luna, Elisabeth R. Barton

Hum Mol Genet. 2015 May 1; 24(9): 2470–2481. Published online 2015 Jan 20. doi: 10.1093/hmg/ddv008

PMCID:: PMC4383861

Abstract Article PDF–785K

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