DMD c.10141C>T ;(p.R3381*)

Variant ID: X-31196868-G-A

NM_004006.2(DMD):c.10141C>T;(p.R3381*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


3D Compartmentalised Human Pluripotent Stem Cell-derived Neuromuscular Co-cultures.

Bio-Protocol
Harley, Peter P; Paredes-Redondo, Amaia A; Grenci, Gianluca G; Viasnoff, Virgile V; Lin, Yung-Yao YY; Lieberam, Ivo I
Publication Date: 2023-03-05

Variant appearance in text: DMD: R3381X
PubMed Link: 36908638
Variant Present in the following documents:
  • Main text
  • BioProtoc-13-05-4624.pdf
View BVdb publication page



Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pasca, Ludovica L; Gardani, Alice A; Paoletti, Matteo M; Velardo, Daniele D; Berardinelli, Angela A
Publication Date: 2022

Variant appearance in text: DMD: 10141C>T; R3381X
PubMed Link: 36349184
Variant Present in the following documents:
  • Main text
  • am-2022-03-121.pdf
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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: R3381X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
View BVdb publication page



Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.

Molecules (Basel, Switzerland)
Nimer, Refat M RM; Sumaily, Khalid M KM; Almuslat, Arwa A; Abdel Jabar, Mai M; Sabi, Essa M EM; Al-Muhaizea, Mohammad A MA; Abdel Rahman, Anas M AM
Publication Date: 2022-06-07

Variant appearance in text: DMD: 10141C>T
PubMed Link: 35744792
Variant Present in the following documents:
  • molecules-27-03662.pdf
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Long term treatment with ataluren-the Swedish experience.

Bmc Musculoskeletal Disorders
Michael, Eva E; Sofou, Kalliopi K; Wahlgren, Lisa L; Kroksmark, Anna-Karin AK; Tulinius, Már M
Publication Date: 2021-09-30

Variant appearance in text: DMD: Arg3381*
PubMed Link: 34592975
Variant Present in the following documents:
  • Main text
  • 12891_2021_Article_4700.pdf
View BVdb publication page



Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.

Science Advances
Paredes-Redondo, Amaia A; Harley, Peter P; Maniati, Eleni E; Ryan, David D; Louzada, Sandra S; Meng, Jinhong J; Kowala, Anna A; Fu, Beiyuan B; Yang, Fengtang F; Liu, Pentao P; Marino, Silvia S; Pourquié, Olivier O; Muntoni, Francesco F; Wang, Jun J; Lieberam, Ivo I; Lin, Yung-Yao YY
Publication Date: 2021-09-10

Variant appearance in text: DMD: 10141C>T; R3381X
PubMed Link: 34516770
Variant Present in the following documents:
  • Main text
  • sciadv.abi8787_sm.pdf
  • sciadv.abi8787.pdf
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Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021

Variant appearance in text: DMD: 10141C>T; Arg3381*
PubMed Link: 34149409
Variant Present in the following documents:
  • Main text
  • fphar-12-648390.pdf
View BVdb publication page



Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 10141C>T; Arg3381*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: DMD: 10141C>T; R3381*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: DMD: 10141C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.

Stem Cell Research
Ferrari, Giulia G; Muntoni, Francesco F; Tedesco, Francesco Saverio FS
Publication Date: 2020-03

Variant appearance in text: DMD: Arg3381X
PubMed Link: 32087527
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Negamycin-Based Potent Readthrough Derivative Effective against TGA-Type Nonsense Mutations.

Acs Medicinal Chemistry Letters
Hamada, Keisuke K; Omura, Noriko N; Taguchi, Akihiro A; Baradaran-Heravi, Alireza A; Kotake, Masaya M; Arai, Misaki M; Takayama, Kentaro K; Taniguchi, Atsuhiko A; Roberge, Michel M; Hayashi, Yoshio Y
Publication Date: 2019-10-10

Variant appearance in text: DMD: R3381X
PubMed Link: 31620232
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019

Variant appearance in text: DMD: 10141C>T
PubMed Link: 30833962
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fgene-10-00114.pdf
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Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 10141C>T; Arg3381*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page



A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: 10141C>T; Arg3381X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Orphanet Journal Of Rare Diseases
Okubo, Mariko M; Goto, Kanako K; Komaki, Hirofumi H; Nakamura, Harumasa H; Mori-Yoshimura, Madoka M; Hayashi, Yukiko K YK; Mitsuhashi, Satomi S; Noguchi, Satoru S; Kimura, En E; Nishino, Ichizo I
Publication Date: 2017-08-31

Variant appearance in text: DMD: 10141C>T; Arg3381*
PubMed Link: 28859693
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_703.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 10141C>T; Arg3381Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: R3381X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
  • pone.0081302.pdf
View BVdb publication page



MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

Bmc Medical Genetics
Yang, Juan J; Li, Shao Y SY; Li, Ya Q YQ; Cao, Ji Q JQ; Feng, Shan W SW; Wang, Yan Y YY; Zhan, Yi X YX; Yu, Chang S CS; Chen, Fei F; Li, Jing J; Sun, Xiao F XF; Zhang, Cheng C
Publication Date: 2013-03-01

Variant appearance in text: DMD: 10141C>T; Arg3381X
PubMed Link: 23453023
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-29.pdf
View BVdb publication page



Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations.

Journal Of Medicinal Chemistry
Kandasamy, Jeyakumar J; Atia-Glikin, Dana D; Shulman, Eli E; Shapira, Katya K; Shavit, Michal M; Belakhov, Valery V; Baasov, Timor T
Publication Date: 2012-12-13

Variant appearance in text: DMD: R3381X
PubMed Link: 23148581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Publication Date: 2011-03-11

Variant appearance in text: DMD: 10141C>T; Arg3381X
PubMed Link: 21396098
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-37.pdf
View BVdb publication page



Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

Journal Of Medicinal Chemistry
Nudelman, Igor I; Rebibo-Sabbah, Annie A; Cherniavsky, Marina M; Belakhov, Valery V; Hainrichson, Mariana M; Chen, Fuquan F; Schacht, Jochen J; Pilch, Daniel S DS; Ben-Yosef, Tamar T; Baasov, Timor T
Publication Date: 2009-05-14

Variant appearance in text: DMD: R3381X
PubMed Link: 19309154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Journal Of Child Neurology
Cunniff, Christopher C; Andrews, Jennifer J; Meaney, F John FJ; Mathews, Katherine D KD; Matthews, Dennis D; Ciafaloni, Emma E; Miller, Timothy M TM; Bodensteiner, John B JB; Miller, Lisa A LA; James, Katherine A KA; Druschel, Charlotte M CM; Romitti, Paul A PA; Pandya, Shree S
Publication Date: 2009-04

Variant appearance in text: DMD: 10141C>T
PubMed Link: 19074751
Variant Present in the following documents:
  • Main text
View BVdb publication page