Publications:

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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.

Bmc Medical Genomics

Tang, Feng F; Xiao, Yuanyuan Y; Zhou, Cong C; Zhang, Haixia H; Wang, Jing J; Zeng, Yang Y

Publication Date: 2023-05-30

Variant appearance in text: DMD: 8713C>T; R2905*

PubMed Link: 37254189

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1556.pdf

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Prime editing in hematopoietic stem cells-From ex vivo to in vivo CRISPR-based treatment of blood disorders.

Frontiers In Genome Editing

Wolff, Jonas Holst JH; Mikkelsen, Jacob Giehm JG

Publication Date: 2023

Variant appearance in text: DMD: 8713C>T

PubMed Link: 36969373

Variant Present in the following documents:

• fgeed-05-1148650.pdf

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Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.

Molecular Therapy. Nucleic Acids

Happi Mbakam, Cedric C; Rousseau, Joel J; Lu, Yaoyao Y; Bigot, Anne A; Mamchaoui, Kamel K; Mouly, Vincent V; Tremblay, Jacques P JP

Publication Date: 2022-12-13

Variant appearance in text: DMD: 8713C>T

PubMed Link: 36320324

Variant Present in the following documents:

• Main text
• main.pdf

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Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications

Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S

Publication Date: 2022-10-10

Variant appearance in text: rs128627256

PubMed Link: 36216793

Variant Present in the following documents:

• 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1

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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: R2905X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

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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: 8713C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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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: 8713C>T; Arg2905*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

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BETs inhibition attenuates oxidative stress and preserves muscle integrity in Duchenne muscular dystrophy.

Nature Communications

Segatto, Marco M; Szokoll, Roberta R; Fittipaldi, Raffaella R; Bottino, Cinzia C; Nevi, Lorenzo L; Mamchaoui, Kamel K; Filippakopoulos, Panagis P; Caretti, Giuseppina G

Publication Date: 2020-11-30

Variant appearance in text: DMD: 8713C>T; Arg2905X

PubMed Link: 33257646

Variant Present in the following documents:

• 41467_2020_19839_MOESM1_ESM.pdf
• 41467_2020_19839_MOESM2_ESM.pdf

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Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Scientific Reports

Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K

Publication Date: 2020-10-12

Variant appearance in text: DMD: 8713C>T; R2905X

PubMed Link: 33046751

Variant Present in the following documents:

• 41598_2020_73315_MOESM1_ESM.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: DMD: R2905*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Niu, Huan-Hong HH; Tao, Dong-Ying DY; Cheng, Sheng-Quan SQ

Publication Date: 2020-06

Variant appearance in text: DMD: 8713C>T; Arg2905Ter

PubMed Link: 32571459

Variant Present in the following documents:

• Main text

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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: R2905X

PubMed Link: 32559196

Variant Present in the following documents:

• Main text
• pone.0232654.pdf

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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: 8713C>T; Arg2905Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.

Frontiers In Genetics

Balicza, Péter P; Varga, Noémi Ágnes NÁ; Bolgár, Bence B; Pentelényi, Klára K; Bencsik, Renáta R; Gál, Anikó A; Gézsi, András A; Prekop, Csilla C; Molnár, Viktor V; Molnár, Mária Judit MJ

Publication Date: 2019

Variant appearance in text: DMD: 8713C>T; R2905X; rs128627256

PubMed Link: 31134136

Variant Present in the following documents:

• Main text

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Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Molecular Genetics & Genomic Medicine

Hong, Sha S; Wang, Li L; Zhao, Dongying D; Zhang, Yonghong Y; Chen, Yan Y; Tan, Jintong J; Liang, Lili L; Zhu, Tianwen T

Publication Date: 2019-06

Variant appearance in text: DMD: 8713C>T; R2905X

PubMed Link: 30968598

Variant Present in the following documents:

• Main text
• MGG3-7-e684.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: 8713C>T; Arg2905*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

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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: 8713C>T; Arg2905X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

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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: 8713C>T; Arg2905Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: DMD: R2905X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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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: 8713C>T; Arg2905Ter

PubMed Link: 25761239

Variant Present in the following documents:

• Main text
• ijms-16-05334.pdf

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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases

Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y

Publication Date: 2015-01-23

Variant appearance in text: DMD: 8713C>T; Arg2905X

PubMed Link: 25612904

Variant Present in the following documents:

• Main text

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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: R2905X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

European Journal Of Human Genetics : Ejhg

Wei, Xiaoming X; Dai, Yi Y; Yu, Ping P; Qu, Ning N; Lan, Zhangzhang Z; Hong, Xiafei X; Sun, Yan Y; Yang, Guanghui G; Xie, Shuqi S; Shi, Quan Q; Zhou, Hanlin H; Zhu, Qian Q; Chu, Yuxing Y; Yao, Fengxia F; Wang, Jinming J; He, Jingni J; Yang, Yun Y; Liang, Yu Y; Yang, Yi Y; Qi, Ming M; Yang, Ling L; Wang, Wei W; Wu, Haitao H; Duan, Jing J; Shen, Cheng C; Wang, Jun J; Cui, Liying L; Yi, Xin X

Publication Date: 2014-01

Variant appearance in text: DMD: 8713C>T; Arg2905X

PubMed Link: 23756440

Variant Present in the following documents:

• Main text

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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: 8713C>T; Arg2905X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

The Journal Of Molecular Diagnostics : Jmd

Kalman, Lisa L; Leonard, Jay J; Gerry, Norman N; Tarleton, Jack J; Bridges, Christina C; Gastier-Foster, Julie M JM; Pyatt, Robert E RE; Stonerock, Eileen E; Johnson, Monique A MA; Richards, C Sue CS; Schrijver, Iris I; Ma, Tianhui T; Miller, Vanessa Rangel VR; Adadevoh, Yetsa Y; Furlong, Pat P; Beiswanger, Christine C; Toji, Lorraine L

Publication Date: 2011-03

Variant appearance in text: DMD: 8713C>T; R2905X

PubMed Link: 21354051

Variant Present in the following documents:

• Main text

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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: 8713C>T; R2905X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Human Mutation

Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Gappmaier, Eduard E; Howard, Michael T MT; Sampson, Jacinda B JB; Mendell, Jerry R JR; Wall, Cheryl C; King, Wendy M WM; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Stephan, Carrie M CM; Laubenthal, Karla S KS; Wong, Brenda L BL; Morehart, Paula J PJ; Meyer, Amy A; Finkel, Richard S RS; Bonnemann, Carsten G CG; Medne, Livija L; Day, John W JW; Dalton, Joline C JC; Margolis, Marcia K MK; Hinton, Veronica J VJ; , ; Weiss, Robert B RB

Publication Date: 2009-12

Variant appearance in text: DMD: 8713C>T; R2905X

PubMed Link: 19937601

Variant Present in the following documents:

• Main text

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Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

American Journal Of Medical Genetics. Part A

Kesari, Akanchha A; Neel, Robert R; Wagoner, Lynne L; Harmon, Brennan B; Spurney, Christopher C; Hoffman, Eric P EP

Publication Date: 2009-07

Variant appearance in text: DMD: Arg2905X

PubMed Link: 19530190

Variant Present in the following documents:

• Main text
• ajmg149A-1499.pdf

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