DMD c.4729C>T ;(p.R1577*)

Variant ID: X-32398743-G-A

NM_004006.2(DMD):c.4729C>T;(p.R1577*)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Neurology. Genetics
Lace, Baiba B; Micule, Ieva I; Kenina, Viktorija V; Setlere, Signe S; Strautmanis, Jurgis J; Kazaine, Inese I; Taurina, Gita G; Murmane, Daiga D; Grinfelde, Ieva I; Kornejeva, Liene L; Krumina, Zita Z; Sterna, Olga O; Radovica-Spalvina, Ilze I; Vasiljeva, Inta I; Gailite, Linda L; Stavusis, Janis J; Livcane, Diana D; Kidere, Dita D; Malniece, Ieva I; Inashkina, Inna I
Publication Date: 2022-06

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 36381256
Variant Present in the following documents:
  • NG2021017316.pdf
View BVdb publication page



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: R1577X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
View BVdb publication page



Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing.

Frontiers In Genetics
Patel, Komal M KM; Bhatt, Arpan D AD; Shah, Krati K; Waghela, Bhargav N BN; Pandit, Ramesh J RJ; Sheth, Harsh H; Joshi, Chaitanya G CG; Joshi, Madhvi N MN
Publication Date: 2021

Variant appearance in text: DMD: 4729C>T; Arg1577*; rs863224999
PubMed Link: 34925456
Variant Present in the following documents:
  • Main text
  • fgene-12-770350.pdf
View BVdb publication page



Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One
Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ
Publication Date: 2021

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 34297739
Variant Present in the following documents:
  • pone.0255011.s001.pdf
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: DMD: 4729C>T; Arg1577Ter; rs863224999
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 13
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 15
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 14
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 11
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 12
View BVdb publication page



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: 4729C>T; Arg1577*
PubMed Link: 34149409
Variant Present in the following documents:
  • Main text
  • fphar-12-648390.pdf
View BVdb publication page



Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One
Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L
Publication Date: 2020

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 32559196
Variant Present in the following documents:
  • Main text
  • pone.0232654.pdf
View BVdb publication page



Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics
Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L
Publication Date: 2019-08-14

Variant appearance in text: DMD: 4729C>T; Arg1577*
PubMed Link: 31412794
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_873.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: 4729C>T; Arg1577Ter
PubMed Link: 30833962
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: DMD: 4729C>T; Arg1577*
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: DMD: 4729C>T; R1577*
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Child Neurology Open
Chan, Sophelia H S SHS; Lo, Ivan F M IFM; Cherk, Sharon W W SWW; Cheng, Wai Wai WW; Fung, Eva L W ELW; Yeung, Wai Lan WL; Ngan, Mary M; Lee, Wing Cheong WC; Kwong, Ling L; Wong, Suet Na SN; Ma, Che Kwan CK; Tai, Shuk Mui SM; Ng, Grace S F GSF; Wu, Shun Ping SP; Wong, Virginia C N VCN
Publication Date: 2015

Variant appearance in text: DMD: 4729C>T; Arg1577*
PubMed Link: 28503591
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X15585345.pdf
View BVdb publication page



Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.

Yonsei Medical Journal
Suh, Mi Ri MR; Lee, Kyung A KA; Kim, Eun Young EY; Jung, Jiho J; Choi, Won Ah WA; Kang, Seong Woong SW
Publication Date: 2017-05

Variant appearance in text: DMD: 4729C>T; Arg1577Ter
PubMed Link: 28332368
Variant Present in the following documents:
  • Main text
  • ymj-58-613.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DMD: R1577*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
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: 4729C>T; Arg1577X
PubMed Link: 23453023
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-29.pdf
View BVdb publication page