Publications:

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: S3127X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.

International Journal Of Molecular Sciences

López-Hernández, Luz Berenice LB; Gómez-Díaz, Benjamín B; Luna-Angulo, Alexandra Berenice AB; Anaya-Segura, Mónica M; Bunyan, David John DJ; Zúñiga-Guzman, Carolina C; Escobar-Cedillo, Rosa Elena RE; Roque-Ramírez, Bladimir B; Ruano-Calderón, Luis Angel LA; Rangel-Villalobos, Héctor H; López-Hernández, Julia Angélica JA; Estrada-Mena, Francisco Javier FJ; García, Silvia S; Coral-Vázquez, Ramón Mauricio RM

Publication Date: 2015-03-09

Variant appearance in text: DMD: 9380C>G; Ser3127Ter

PubMed Link: 25761239

Variant Present in the following documents:

• Main text
• ijms-16-05334.pdf

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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: S3127X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 9380C>G; Ser3127X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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