Works matching DE "DYSTROPHIN genes"

Results: 366

Clinical and demographic characteristics of Becker muscular dystrophy cases.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2025, v. 19, n. 3, p. 123, doi. 10.12956/tchd.1557901

By:

Güzin, Yiğithan;
Doğan, Sevcan Deniz;
Uzan, Gamze Sarıkaya;
Doğan, Gizem;
Özyılmaz, Berk;
Tuncay, Bakiye;
Baydan, Figen

Publication type:

Article

A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in mdx Mice.

Published in:

Journal of Cardiovascular Pharmacology & Therapeutics, 2022, v. 27, p. 1, doi. 10.1177/10742484221088655

By:

Gartz, Melanie;
Haberman, Margaret;
Prom, Mariah J.;
Beatka, Margaret J.;
Strande, Jennifer L.;
Lawlor, Michael W.

Publication type:

Article

Molecular Analysis of Algerian Patients with Duchenne and Becker Muscular Dystrophy.

Published in:

South Asian Journal of Experimental Biology, 2020, v. 10, n. 3, p. 176, doi. 10.38150/sajeb.10(3).p176-182

By:

Nadira, Hamdouche;
Yamina, Sifi;
Djahida, Mahdi;
Imen, Dalichaouche;
Karima, Sifi;
Noureddine, Abadi;
Abderrahim, M' Zahem;
Dalila, Satta

Publication type:

Article

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2088

By:

Ulm, Elizabeth A.;
Nagaraj, Chinmayee B.;
Tian, Cuixia;
Smolarek, Teresa A.

Publication type:

Article

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1759

By:

Guevara‐Fujita, María Luisa;
Huaman‐Dianderas, Francia;
Obispo, Daisy;
Sánchez, Rodrigo;
Barrenechea, Victor;
Rojas‐Málaga, Diana;
Estrada‐Cuzcano, Alejandro;
Trubnykova, Milana;
Cornejo‐Olivas, Mario;
Marca, Victoria;
Gallardo, Bertha;
Dueñas‐Roque, Milagros;
Protzel, Ana;
Castañeda, Carlos;
Abarca, Hugo;
Celis, Luis;
La Serna‐Infantes, Jorge;
Fujita, Ricardo

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1633

By:

Shastry, Arun;
Aravind, Sankaramoorthy;
Sunil, Meeta;
Ramesh, Keerthi;
Ashley, Berty;
T., Nithyanandan;
Ramprasad, Vedam L.;
Gupta, Ravi;
Seshagiri, Somasekar;
Nongthomba, Upendra;
Phalke, Sameer

Publication type:

Article

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 539, doi. 10.1002/mgg3.108

By:

Baskin, Berivan;
Stavropoulos, Dimitri J.;
Rebeiro, Paige A.;
Orr, Jennifer;
Li, Martin;
Steele, Leslie;
Marshall, Christian R.;
Lemire, Edmond G.;
Boycott, Kym M.;
Gibson, William;
Ray, Peter N.

Publication type:

Article

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48982-w

By:

Sarker, Shaoli;
Eshaque, Tamannyat Binte;
Soorajkumar, Anjana;
Nassir, Nasna;
Zehra, Binte;
Kanta, Shayla Imam;
Rahaman, Md Atikur;
Islam, Amirul;
Akter, Shimu;
Ali, Mohammad Kawsar;
Mim, Rabeya Akter;
Uddin, K. M. Furkan;
Chowdhury, Mohammod Shah Jahan;
Shams, Nusrat;
Baqui, Md. Abdul;
Lim, Elaine T.;
Akter, Hosneara;
Woodbury-Smith, Marc;
Uddin, Mohammed

Publication type:

Article

Design of bacteriophage T4-based artificial viral vectors for human genome remodeling.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38364-1

By:

Zhu, Jingen;
Batra, Himanshu;
Ananthaswamy, Neeti;
Mahalingam, Marthandan;
Tao, Pan;
Wu, Xiaorong;
Guo, Wenzheng;
Fokine, Andrei;
Rao, Venigalla B.

Publication type:

Article

Studies Point Way to New Therapeutic Prospects for Muscular Dystrophy.

Published in:

JAMA: Journal of the American Medical Association, 2007, v. 298, n. 12, p. 1385, doi. 10.1001/jama.298.12.1385

By:

Kuehn, Bridget M.

Publication type:

Article

Muscular Dystrophy Advance.

Published in:

JAMA: Journal of the American Medical Association, 2006, v. 296, n. 23, p. 2791, doi. 10.1001/jama.296.23.2791-a

By:

Stephenson, Joan

Publication type:

Article

RISCALW: A Windows Program for Risk Calculation in Families with Duchenne Muscular Dystrophy.

Published in:

Annals of Human Genetics, 2006, v. 70, n. 2, p. 249, doi. 10.1111/j.1529-8817.2005.00227.x

By:

Fischer, C.;
Krüger, J.;
Gross, W.

Publication type:

Article

Analysis of Dystrophin Gene Deletions Indicates that the Hinge III Region of the Protein Correlates with Disease Severity.

Published in:

Annals of Human Genetics, 2005, v. 69, n. 3, p. 253, doi. 10.1046/J.1469-1809.2005.00160.x

By:

Carsana, A.;
Frisso, G.;
Tremolaterra, M. R.;
Lanzillo, R.;
Vitale, D. F.;
Santoro, L.;
Salvatore, F.

Publication type:

Article

Marked hemiatrophy caused by a nonsense mutation of the dystrophin gene in a female patient of Duchenne muscular dystrophy.

Published in:

Neurology Asia, 2020, v. 25, n. 4, p. 593

By:

Zhi-Jie Zhou;
Yu-Quan Shao;
Fei Xie;
Ping Xia

Publication type:

Article

Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.

Published in:

Neurology Asia, 2010, v. 15, n. 1, p. 19

By:

Tan, Jin-Ai Mary Anne;
Chan, James Hsian-Meng;
Kim-Lian Tan;
Annuar, Azlina Ahmad;
Moon-Keen Lee;
Khean-Jin Goh;
Kum-Thong Wong

Publication type:

Article

Fidelity of Gamma-Glutamyl Transferase (GGT) in Differentiating Skeletal Muscle From Liver Damage.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 7, p. 748, doi. 10.1177/0883073808314365

By:

Rosales, Xiomara Q.;
Chu, Mary-Lynn;
Shilling, Christopher;
Wall, Cheryl;
Pastores, Gregory M.;
Mendell, Jerry R.

Publication type:

Article

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 7, p. 901, doi. 10.1177/0883073807304705

By:

Kimura, Shigemi;
Ikezawa, Makoto;
Ozasa, Shiro;
Ito, Kaori;
Ueno, Hiroc;
Yoshioka, Kowashi;
Ijiri, Saki;
Nornura, Keiko;
Nakamura, Kyoko;
Matuskura, Makoto;
Miike, Teruhisa

Publication type:

Article

Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 2, p. 150, doi. 10.1177/08830738060210021101

By:

Kiat Hong Tay, Stacey;
Hwee Hoon Khng;
Poh Sim Low;
Poh San Lai

Publication type:

Article

Coexisting Muscular Dystrophies and Epilepsy in Children.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 2, p. 148, doi. 10.1177/08830738060210021601

By:

Chang-Yong Tsao;
Mendell, J.R.

Publication type:

Article

Dp71f Modulates GSK3-β Recruitment to the β1-Integrin Adhesion Complex.

Published in:

Neurochemical Research, 2009, v. 34, n. 3, p. 438, doi. 10.1007/s11064-008-9802-x

By:

Joel Cortés;
Eliud Montalvo;
Jesús Muñiz;
Dominique Mornet;
Efrain Garrido;
Federico Centeno;
Bulmaro Cisneros

Publication type:

Article

A 29-YEAR-OLD MAN WITH DIFFICULTY CLIMBING THE STAIRS.

Published in:

2014

By:

Brady, Stefen;
Barresi, Rita;
Charlton, Richard;
Turner, Christopher;
Holton, Janice L.

Publication type:

Case Study

Induction of revertant fibres in the mdx mouse using antisense oligonucleotides.

Published in:

Genetic Vaccines & Therapy, 2006, v. 4, p. 3, doi. 10.1186/1479-0556-4-3

By:

Fall, Abbie M.;
Johnsen, Russell;
Honeyman, Kaite;
Iversen, Pat;
Fletcher, Susan;
Wilton, Stephen D.

Publication type:

Article

The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03570-x

By:

Golli, Tanja;
Juříková, Lenka;
Sejersen, Thomas;
Dixon, Craig

Publication type:

Article

CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.

Published in:

BMC Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12915-024-02008-7

By:

Chey, Yu C. J.;
Corbett, Mark A.;
Arudkumar, Jayshen;
Piltz, Sandra G.;
Thomas, Paul Q.;
Adikusuma, Fatwa

Publication type:

Article

Prediction of Premature Termination Codon Suppressing Compounds for Treatment of Duchenne Muscular Dystrophy Using Machine Learning.

Published in:

Molecules, 2020, v. 25, n. 17, p. 3886, doi. 10.3390/molecules25173886

By:

Wang, Kate;
Romm, Eden L.;
Kouznetsova, Valentina L.;
Tsigelny, Igor F.;
Maigret, Bernard;
Gentili, Pier Luigi

Publication type:

Article

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Published in:

Molecules, 2015, v. 20, n. 10, p. 18168, doi. 10.3390/molecules201018168

By:

Falzarano, Maria Sofia;
Scotton, Chiara;
Passarelli, Chiara;
Ferlini, Alessandra

Publication type:

Article

Presence or Absence of Cardiac Disease in Duchenne Muscular Dystrophy.

Published in:

Cardiology, 2012, v. 121, n. 3, p. 184, doi. 10.1159/000336808

By:

Finsterer, Josef

Publication type:

Article

Recovery of Systolic Dysfunction in Duchenne Muscular Dystrophy due to the Point Mutation c.4213C>T.

Published in:

Cardiology, 2011, v. 117, n. 4, p. 265, doi. 10.1159/000323515

By:

Finsterer, Josef;
Stöllberger, Claudia;
Holinski-Feder, Elke

Publication type:

Article

The Heart in Human Dystrophinopathies.

Published in:

Cardiology, 2003, v. 99, n. 1, p. 1, doi. 10.1159/000068446

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy.

Published in:

2019

By:

Lester, Geoffrey;
Femia, Giuseppe;
Ayer, Julian;
Puranik, Rajesh

Publication type:

Case Study

Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2009, v. 19, n. 6, p. 830, doi. 10.1016/j.rbmo.2009.09.023

By:

Girardet, A.;
Fernandez, C.;
Claustres, M.

Publication type:

Article

Successful preimplantation genetic diagnosis for Duchenne muscular dystrophy using multiple displacement amplification.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-48

By:

Z., Ren;
C., Zhou;
Y., Xu;
H., Zeng;
C., Zhang;
G-I., Zhuang

Publication type:

Article

Proof of principle and first cases using preimplantation genetic haplotyping -- a paradigm shift for embryo diagnosis.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2006, v. 13, n. 1, p. 110, doi. 10.1016/S1472-6483(10)62024-X

By:

Renwick, Pamela J.;
Trussler, Jane;
Ostad-Saffari, Elham;
Fassihi, Hiva;
Black, Cheryl;
Braude, Peter;
Mackie Ogilvie, Caroline;
Abbs, Stephen

Publication type:

Article

Mechanisms of Chimeric Cell Therapy in Duchenne Muscular Dystrophy.

Published in:

Biomedicines, 2024, v. 12, n. 9, p. 1996, doi. 10.3390/biomedicines12091996

By:

Siemionow, Maria;
Ziemiecka, Anna;
Bożyk, Katarzyna;
Siemionow, Krzysztof

Publication type:

Article

Amelioration of Morphological Pathology in Cardiac, Respiratory, and Skeletal Muscles Following Intraosseous Administration of Human Dystrophin Expressing Chimeric (DEC) Cells in Duchenne Muscular Dystrophy Model.

Published in:

Biomedicines, 2024, v. 12, n. 3, p. 586, doi. 10.3390/biomedicines12030586

By:

Siemionow, Maria;
Budzynska, Katarzyna;
Zalants, Kristina;
Langa, Paulina;
Brodowska, Sonia;
Siemionow, Krzysztof;
Heydemann, Ahlke

Publication type:

Article

Does β-Hydroxy-β-Methylbutyrate Have Any Potential to Support the Treatment of Duchenne Muscular Dystrophy in Humans and Animals?

Published in:

Biomedicines, 2023, v. 11, n. 8, p. 2329, doi. 10.3390/biomedicines11082329

By:

Gorji, Abdolvahab Ebrahimpour;
Ostaszewski, Piotr;
Urbańska, Kaja;
Sadkowski, Tomasz

Publication type:

Article

When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes.

Published in:

Biomedicines, 2023, v. 11, n. 7, p. 2082, doi. 10.3390/biomedicines11072082

By:

Hildyard, John C. W.;
Piercy, Richard J.

Publication type:

Article

Next-Generation SINE Compound KPT−8602 Ameliorates Dystrophic Pathology in Zebrafish and Mouse Models of DMD.

Published in:

Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102400

By:

English, Katherine G.;
Reid, Andrea L.;
Samani, Adrienne;
Coulis, Gerald J. F.;
Villalta, S. Armando;
Walker, Christopher J.;
Tamir, Sharon;
Alexander, Matthew S.

Publication type:

Article

Inflammation in Duchenne Muscular Dystrophy–Exploring the Role of Neutrophils in Muscle Damage and Regeneration.

Published in:

Biomedicines, 2021, v. 9, n. 10, p. 1366, doi. 10.3390/biomedicines9101366

By:

Tulangekar, Ankita;
Sztal, Tamar E.

Publication type:

Article

Minidystrophin<sup>ΔH2-R19</sup> Improves Akt Expression and P70 S6 Kinase Activation During Dystrophin-Deficient Myoblasts Differentiation.

Published in:

Malaysian Journal of Medicine & Health Sciences, 2022, v. 18, p. 38

By:

Yazid, Muhammad Dain;
Chen Hung Chih

Publication type:

Article

Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.

Published in:

Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 111, doi. 10.3390/jpm10030111

By:

Sheikh, Omar;
Yokota, Toshifumi

Publication type:

Article

Applications of CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy.

Published in:

Journal of Personalized Medicine, 2018, v. 8, n. 4, p. 38, doi. 10.3390/jpm8040038

By:

Lim, Kenji Rowel Q.;
Yoon, Chantal;
Yokota, Toshifumi

Publication type:

Article

Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma.

Published in:

Frontiers in Psychology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01369

By:

Percival, Justin M.

Publication type:

Article

Characterization of Alzheimer's disease‐like neuropathology in Duchenne's muscular dystrophy using the DBA/2J mdx mouse model.

Published in:

FEBS Open Bio, 2022, v. 12, n. 1, p. 154, doi. 10.1002/2211-5463.13317

By:

Hayward, Grant C.;
Caceres, Daniela;
Copeland, Emily N.;
Baranowski, Bradley J.;
Mohammad, Ahmad;
Whitley, Kennedy C.;
Fajardo, Val A.;
MacPherson, Rebecca E. K.

Publication type:

Article

Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy.

Published in:

Nature Cell Biology, 2013, v. 15, n. 8, p. 895, doi. 10.1038/ncb2790

By:

Mourkioti, Foteini;
Kustan, Jackie;
Kraft, Peggy;
Day, John W.;
Zhao, Ming-Ming;
Kost-Alimova, Maria;
Protopopov, Alexei;
DePinho, Ronald A.;
Bernstein, Daniel;
Meeker, Alan K.;
Blau, Helen M.

Publication type:

Article

A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma.

Published in:

International Journal of Dermatology, 2011, v. 50, n. 1, p. 52, doi. 10.1111/j.1365-4632.2010.04642.x

By:

Lin Huang;
Yim-Ping Wong;
Burd, Andrew

Publication type:

Article

Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis.

Published in:

Acta Medica Iranica, 2011, v. 49, n. 3, p. 142

By:

Ali Malayeri, Fardeen;
Panjehpour, Mojtaba;
Movahedian, Ahmad;
Ghaffarpour, Majid;
Zamani, Gholam Reza;
Tabrizi, Mina Hajifaraj;
Zamani, Mahdi

Publication type:

Article

Absence of full-length dystrophin impairs normal maturation and contraction of cardiomyocytes derived from human-induced pluripotent stem cells.

Published in:

Cardiovascular Research, 2020, v. 116, n. 2, p. 368, doi. 10.1093/cvr/cvz109

By:

Pioner, J Manuel;
Guan, Xuan;
Klaiman, Jordan M;
Racca, Alice W;
Pabon, Lil;
Muskheli, Veronica;
Macadangdang, Jesse;
Ferrantini, Cecilia;
Hoopmann, Michael R;
Moritz, Robert L;
Kim, Deok-Ho;
Tesi, Chiara;
Poggesi, Corrado;
Murry, Charles E;
Childers, Martin K;
Mack, David L;
Regnier, Michael

Publication type:

Article

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03128-7

By:

Xie, Zhiying;
Liu, Chang;
Yu, Haiyan;
Xie, Zhihao;
Sun, Chengyue;
Zhu, Ying;
Hu, Xiaoyu;
Bai, Li;
Wei, Luhua;
Sun, Peng;
Lu, Yanyu;
Lu, Yunlong;
Zhao, Yawen;
Zhang, Wei;
Wang, Zhaoxia;
Meng, Lingchao;
Yuan, Yun

Publication type:

Article

Myocardial native T<sub>1</sub> mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02899-9

By:

Lucia, Masárová;
Roman, Panovský;
Martin, Pešl;
Luz, Mojica-Pisciotti Mary;
Tomáš, Holeček;
Vladimír, Kincl;
Lenka, Juříková;
Jan, Máchal;
Lukáš, Opatřil;
Věra, Feitová

Publication type:

Article