PMC Links for Nucleotide (Select 238018046) - 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 55314685.

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842

PMCID:: PMC5531468

Abstract Article PDF–1.7M

Select item 37488296.

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Elisabeth Le Rumeur

Orphanet J Rare Dis. 2012; 7: 45. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-45

PMCID:: PMC3748829

Abstract Article PDF–1.4M

Select item 37388247.

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Yong-hui Jiang, Ryan K.C. Yuen, Xin Jin, Mingbang Wang, Nong Chen, Xueli Wu, Jia Ju, Junpu Mei, Yujian Shi, Mingze He, Guangbiao Wang, Jieqin Liang, Zhe Wang, Dandan Cao, Melissa T. Carter, Christina Chrysler, Irene E. Drmic, Jennifer L. Howe, Lynette Lau, Christian R. Marshall, Daniele Merico, Thomas Nalpathamkalam, Bhooma Thiruvahindrapuram, Ann Thompson, Mohammed Uddin, Susan Walker, Jun Luo, Evdokia Anagnostou, Lonnie Zwaigenbaum, Robert H. Ring, Jian Wang, Clara Lajonchere, Jun Wang, Andy Shih, Peter Szatmari, Huanming Yang, Geraldine Dawson, Yingrui Li, Stephen W. Scherer

Am J Hum Genet. 2013 Aug 8; 93(2): 249–263. doi: 10.1016/j.ajhg.2013.06.012

PMCID:: PMC3738824

Abstract Article PDF–537K

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