Publications:

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Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells.

International Journal Of Molecular Sciences

Rugerio-Martínez, Claudia Ivette CI; Ramos, Daniel D; Segura-Olvera, Abel A; Murillo-Melo, Nadia Mireya NM; Tapia-Guerrero, Yessica Sarai YS; Argüello-García, Raúl R; Leyva-García, Norberto N; Hernández-Hernández, Oscar O; Cisneros, Bulmaro B; Suárez-Sánchez, Rocío R

Publication Date: 2022-10-06

Variant appearance in text: DMD: C3340Y

PubMed Link: 36233175

Variant Present in the following documents:

• Main text
• ijms-23-11876.pdf

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LncRNAs as a new regulator of chronic musculoskeletal disorder.

Cell Proliferation

Huang, Hesuyuan H; Xing, Dan D; Zhang, Qingxi Q; Li, Hui H; Lin, Jianjing J; He, Zihao Z; Lin, Jianhao J

Publication Date: 2021-10

Variant appearance in text: DMD: C3340Y

PubMed Link: 34498342

Variant Present in the following documents:

• Main text

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Functional significance of gain-of-function H19 lncRNA in skeletal muscle differentiation and anti-obesity effects.

Genome Medicine

Li, Yajuan Y; Zhang, Yaohua Y; Hu, Qingsong Q; Egranov, Sergey D SD; Xing, Zhen Z; Zhang, Zhao Z; Liang, Ke K; Ye, Youqiong Y; Pan, Yinghong Y; Chatterjee, Sujash S SS; Mistretta, Brandon B; Nguyen, Tina K TK; Hawke, David H DH; Gunaratne, Preethi H PH; Hung, Mien-Chie MC; Han, Leng L; Yang, Liuqing L; Lin, Chunru C

Publication Date: 2021-08-28

Variant appearance in text: DMD: C3340Y

PubMed Link: 34454586

Variant Present in the following documents:

• Main text
• 13073_2021_Article_937.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: 10019G>A

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: DMD: 10019G>A; C3340Y; rs104894788

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin.

Nature Cell Biology

Zhang, Yaohua Y; Li, Yajuan Y; Hu, Qingsong Q; Xi, Yutao Y; Xing, Zhen Z; Zhang, Zhao Z; Huang, Lisa L; Wu, Jianbo J; Liang, Ke K; Nguyen, Tina K TK; Egranov, Sergey D SD; Sun, Chengcao C; Zhao, Zilong Z; Hawke, David H DH; Li, Jin J; Sun, Deqiang D; Kim, Jean J JJ; Zhang, Ping P; Cheng, Jie J; Farida, Abid A; Hung, Mien-Chie MC; Han, Leng L; Darabi, Radbod R; Lin, Chunru C; Yang, Liuqing L

Publication Date: 2020-11

Variant appearance in text: DMD: C3340Y

PubMed Link: 33106653

Variant Present in the following documents:

• nihms-1630179.pdf
• NIHMS1630179-supplement-1630179_ExtSourceDataFig2.xlsx, sheet 1
• NIHMS1630179-supplement-1630179_SourceDataFig2.xlsx, sheet 2
• NIHMS1630179-supplement-1630179_SourceDataFig2.xlsx, sheet 3

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The ZZ domain of dystrophin in DMD: making sense of missense mutations.

Human Mutation

Vulin, Adeline A; Wein, Nicolas N; Strandjord, Dana M DM; Johnson, Eric K EK; Findlay, Andrew R AR; Maiti, Baijayanta B; Howard, Michael T MT; Kaminoh, Yuuki J YJ; Taylor, Laura E LE; Simmons, Tabatha R TR; Ray, Will C WC; Montanaro, Federica F; Ervasti, Jim M JM; Flanigan, Kevin M KM

Publication Date: 2014-02

Variant appearance in text: DMD: 10019G>A; Cys3340Tyr

PubMed Link: 24302611

Variant Present in the following documents:

• Main text

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Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Cirak, Sebahattin S; Feng, Lucy L; Anthony, Karen K; Arechavala-Gomeza, Virginia V; Torelli, Silvia S; Sewry, Caroline C; Morgan, Jennifer E JE; Muntoni, Francesco F

Publication Date: 2012-02

Variant appearance in text: DMD: C3340Y

PubMed Link: 22086232

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: C3340Y

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site.

The Biochemical Journal

Hnia, Karim K; Zouiten, Dora D; Cantel, Sonia S; Chazalette, Delphine D; Hugon, Gérald G; Fehrentz, Jean-Alain JA; Masmoudi, Ahmed A; Diment, Ann A; Bramham, Janice J; Mornet, Dominique D; Winder, Steve J SJ

Publication Date: 2007-02-01

Variant appearance in text: DMD: C3340Y

PubMed Link: 17009962

Variant Present in the following documents:

• Main text

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