DMD c.583C>T ;(p.R195*)

Variant ID: X-32827676-G-A

NM_004006.2(DMD):c.583C>T;(p.R195*)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Scientific Reports
Wu, Teng-Hui TH; Peng, Jing J; Yang, Li L; Chen, Yan-Hui YH; Lu, Xiu-Lan XL; Huang, Jiao-Tian JT; You, Jie-Yu JY; Ou-Yang, Wen-Xian WX; Sun, Yue-Yu YY; Xue, Yi-Nan YN; Mao, Xiao X; Yan, Hui-Ming HM; Ren, Rong-Na RN; Xie, Jing J; Chen, Zhi-Heng ZH; Zhang, Victor-Wei VW; Lyu, Gui-Zhen GZ; He, Fang F
Publication Date: 2023-03-14

Variant appearance in text: DMD: 583C>T; R195*
PubMed Link: 36918699
Variant Present in the following documents:
  • 41598_2023_31134_MOESM1_ESM.pdf
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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: 583C>T; Arg195Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.

Frontiers In Neuroscience
Gan, Siyi S; Liu, Shulei S; Yang, Haiyan H; Wu, Liwen L
Publication Date: 2022

Variant appearance in text: DMD: R195X
PubMed Link: 36419457
Variant Present in the following documents:
  • Main text
  • fnins-16-992546.pdf
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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association
Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP
Publication Date: 2022-10-04

Variant appearance in text: DMD: 583C>T; R195X
PubMed Link: 36129056
Variant Present in the following documents:
  • JAH3-11-e025257-s001.pdf
  • JAH3-11-e025257.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: R195X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
  • pnas.202122004.pdf
View BVdb publication page



Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15

Variant appearance in text: DMD: 583C>T; Arg195*; rs398123999
PubMed Link: 34679607
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01910.pdf
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 583C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.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: 583C>T; Arg195*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Molecular Genetics & Genomic Medicine
Shastry, Arun A; Aravind, Sankaramoorthy S; Sunil, Meeta M; Ramesh, Keerthi K; Ashley, Berty B; T, Nithyanandan N; Ramprasad, Vedam L VL; Gupta, Ravi R; Seshagiri, Somasekar S; Nongthomba, Upendra U; Phalke, Sameer S
Publication Date: 2021-05

Variant appearance in text: DMD: 583C>T; Arg195Ter
PubMed Link: 33960727
Variant Present in the following documents:
  • Main text
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: 583C>T; R195*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: DMD: 583C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.

The Indian Journal Of Medical Research
Aravind, Sankaramoorthy S; Ashley, Berty B; Mannan, Ashraf A; Ganapathy, Aparna A; Ramesh, Keerthi K; Ramachandran, Aparna A; Nongthomba, Upendra U; Shastry, Arun A
Publication Date: 2019-09

Variant appearance in text: DMD: 583C>T; Arg195*
PubMed Link: 31719299
Variant Present in the following documents:
  • Main text
View BVdb publication page



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.

Genes
Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M
Publication Date: 2019-10-29

Variant appearance in text: DMD: 583C>T; rs398123999
PubMed Link: 31671740
Variant Present in the following documents:
  • Main text
  • genes-10-00856.pdf
View BVdb publication page



A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Genome Medicine
Cao, Ye Y; Tokita, Mari J MJ; Chen, Edward S ES; Ghosh, Rajarshi R; Chen, Tiansheng T; Feng, Yanming Y; Gorman, Elizabeth E; Gibellini, Federica F; Ward, Patricia A PA; Braxton, Alicia A; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Bi, Weimin W; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Gambin, Tomasz T; Shaw, Chad C; Liu, Pengfei P; Stankiewicz, Pawel P
Publication Date: 2019-07-26

Variant appearance in text: DMD: 583C>T; R195*
PubMed Link: 31349857
Variant Present in the following documents:
  • Main text
  • 13073_2019_658_MOESM4_ESM.xlsx, sheet 1
  • 13073_2019_Article_658.pdf
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: 583C>T; Arg195Ter
PubMed Link: 30833962
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



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: 583C>T; Arg195*
PubMed Link: 29973226
Variant Present in the following documents:
  • Main text
  • 13023_2018_853_MOESM1_ESM.pdf
  • 13023_2018_Article_853.pdf
View BVdb publication page



A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

Plos One
Sardone, Valentina V; Ellis, Matthew M; Torelli, Silvia S; Feng, Lucy L; Chambers, Darren D; Eastwood, Deborah D; Sewry, Caroline C; Phadke, Rahul R; Morgan, Jennifer E JE; Muntoni, Francesco F
Publication Date: 2018

Variant appearance in text: DMD: 583C>T
PubMed Link: 29579078
Variant Present in the following documents:
  • Main text
  • pone.0194540.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: 583C>T; Arg195Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

Plos One
Janghra, Narinder N; Morgan, Jennifer E JE; Sewry, Caroline A CA; Wilson, Francis X FX; Davies, Kay E KE; Muntoni, Francesco F; Tinsley, Jonathon J
Publication Date: 2016

Variant appearance in text: DMD: 583C>T; Arg195X
PubMed Link: 26974331
Variant Present in the following documents:
  • Main text
  • pone.0150818.pdf
View BVdb publication page



Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Nature
Wong, Terrence N TN; Ramsingh, Giridharan G; Young, Andrew L AL; Miller, Christopher A CA; Touma, Waseem W; Welch, John S JS; Lamprecht, Tamara L TL; Shen, Dong D; Hundal, Jasreet J; Fulton, Robert S RS; Heath, Sharon S; Baty, Jack D JD; Klco, Jeffery M JM; Ding, Li L; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Graubert, Timothy A TA; Ley, Timothy J TJ; Druley, Todd T; Link, Daniel C DC; Wilson, Richard K RK
Publication Date: 2015-02-26

Variant appearance in text: DMD: R195*
PubMed Link: 25487151
Variant Present in the following documents:
  • NIHMS635306-supplement-5.xlsx, sheet 1
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: R195X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Balkan Journal Of Medical Genetics : Bjmg
Chamova, T T; Guergueltcheva, V V; Raycheva, M M; Todorov, T T; Genova, J J; Bichev, S S; Bojinova, V V; Mitev, V V; Tournev, I I; Todorova, A A
Publication Date: 2013-06

Variant appearance in text: DMD: 583C>T
PubMed Link: 24265581
Variant Present in the following documents:
  • Main text
  • bjmg-16-01-21.pdf
View BVdb publication page



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: 583C>T; Arg195X
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
View BVdb publication page



One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01

Variant appearance in text: DMD: 583C>T; R195X
PubMed Link: 19959795
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: 583C>T
PubMed Link: 19074751
Variant Present in the following documents:
  • Main text
View BVdb publication page