Works matching DE "DYSTROPHIN genes"

Results: 368

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Published in:

Neurogenetics, 2005, v. 6, n. 1, p. 29, doi. 10.1007/s10048-004-0204-1

By:

Janssen, B.;
Hartmann, C.;
Scholz, V.;
Jauch, A.;
Zschocke, J.

Publication type:

Article

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M

By:

Maksić, Jasmina;
Maksimović, Nela;
Rasulić, Lukas;
Milankov, Olgica;
Marjanović, Ana;
Cvetković, Dragana;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 4, p. 387, doi. 10.2298/VSP180226089M

By:

Maksić, Jasmina;
Dobričić, Valerija;
Rasulić, Lukas;
Maksimović, Nela;
Branković, Marija;
Rašić, Vedrana Milić;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Topoisomerase II Hypersensitive Sites in the 5"-Terminal Region of Human Dystrophin Gene.

Published in:

Doklady Biochemistry & Biophysics, 2001, v. 378, n. 1-6, p. 198, doi. 10.1023/A:1011565229893

By:

Bystritskii, A. A.;
Hancock, R.;
Razin, S. V.;
Yarovaya, O. V.

Publication type:

Article

Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.

Published in:

Pediatric Cardiology, 2022, v. 43, n. 4, p. 855, doi. 10.1007/s00246-021-02797-6

By:

Gambetta, Katheryn E.;
McCulloch, Michael A.;
Lal, Ashwin K.;
Knecht, Kenneth;
Butts, Ryan J.;
Villa, Chet R.;
Johnson, Jonathan N.;
Conway, Jennifer;
Bock, Matthew J.;
Schumacher, Kurt R.;
Law, Sabrina P.;
Friedland-Little, Joshua M.;
Deshpande, Shriprasad R.;
West, Shawn C.;
Lytrivi, Irene D.;
Wittlieb-Weber, Carol A.

Publication type:

Article

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283

By:

Robert M.W. Hofstra;
Inge M. Mulder;
Rolf Vossen;
Pia A. M. de Koning-Gans;
Marian Kraak;
Ieke B. Ginjaar;
Annemarie H. van der Hout;
Egbert Bakker;
Charles H.C.M. Buys;
Gert-Jan B. van Ommen;
Anthonie J. van Essen;
Johan T. den Dunnen

Publication type:

Article

SYSTEMATIC REVIEW OF GENETIC CAUSE IN DUCHENNE MUSCULAR DYSTROPHY.

Published in:

Genetics & Applications, 2023, p. 63

By:

Amina, Aleta;
Ahmed, Pupalović;
Faris, Hrvat

Publication type:

Article

Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients.

Published in:

Journal of Neurogenetics, 2013, v. 27, n. 4, p. 170, doi. 10.3109/01677063.2013.830616

By:

Tran, Van Khanh;
Ta, Van Thanh;
Vu, Dung Chi;
Nguyen, Suong Thi-Bang;
Do, Hai Ngoc;
Ta, Minh Hieu;
Tran, Thinh Huy;
Matsuo, Masafumi

Publication type:

Article

Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family.

Published in:

Journal of Neurogenetics, 2008, v. 22, n. 1, p. 93, doi. 10.1080/01677060701686184

By:

Fenollar-Cortés, M.;
Gallego-Merlo, J.;
Trujillo-Tiebas, M.J.;
Lorda-Sánchez, I.;
Ayuso, C.

Publication type:

Article

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235

By:

Komaki, Hirofumi;
Takeshima, Yasuhiro;
Matsumura, Tsuyoshi;
Ozasa, Shiro;
Funato, Michinori;
Takeshita, Eri;
Iwata, Yasuyuki;
Yajima, Hiroyuki;
Egawa, Yoichi;
Toramoto, Takuya;
Tajima, Masaya;
Takeda, Shinichi

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

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Published in:

2007

By:

Jakubiczka, Sibylle;
Bettecken, Thomas;
Mohnike, Klaus;
Schneppenheim, Reinhard;
Stumm, Markus;
Tönnies, Holger;
Volleth, Marianne;
Wieacker, Peter;
Tönnies, Holger

Publication type:

journal article

Molecular pathways involved in the control of contractile and metabolic properties of skeletal muscle fibers as potential therapeutic targets for Duchenne muscular dystrophy.

Published in:

2024

By:

Bonato, Agnese;
Raparelli, Giada;
Caruso, Maurizia

Publication type:

Literature Review

An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.

Published in:

Genes, 2024, v. 15, n. 11, p. 1489, doi. 10.3390/genes15111489

By:

Leckie, Jamie;
Zia, Abdullah;
Yokota, Toshifumi

Publication type:

Article

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Published in:

Genes, 2023, v. 14, n. 1, p. 214, doi. 10.3390/genes14010214

By:

Viggiano, Emanuela;
Picillo, Esther;
Passamano, Luigia;
Onore, Maria Elena;
Piluso, Giulio;
Scutifero, Marianna;
Torella, Annalaura;
Nigro, Vincenzo;
Politano, Luisa

Publication type:

Article

Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot.

Published in:

Genes, 2022, v. 13, n. 2, p. 257, doi. 10.3390/genes13020257

By:

Wilton-Clark, Harry;
Yokota, Toshifumi

Publication type:

Article

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.

Published in:

Genes, 2020, v. 11, n. 10, p. 1180, doi. 10.3390/genes11101180

By:

Xie, Zhiying;
Tang, Liuqin;
Xie, Zhihao;
Sun, Chengyue;
Shuai, Haoyue;
Zhou, Chao;
Liu, Yilin;
Yu, Meng;
Zheng, Yiming;
Meng, Lingchao;
Zhang, Wei;
Leal, Suzanne M.;
Wang, Zhaoxia;
Schrauwen, Isabelle;
Yuan, Yun

Publication type:

Article

Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update.

Published in:

Genes, 2020, v. 11, n. 8, p. 837, doi. 10.3390/genes11080837

By:

Sun, Chengmei;
Shen, Luoan;
Zhang, Zheng;
Xie, Xin

Publication type:

Article

Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.

Published in:

Genes, 2020, v. 11, n. 7, p. 765, doi. 10.3390/genes11070765

By:

Lim, Kenji Rowel Q.;
Sheri, Narin;
Nguyen, Quynh;
Yokota, Toshifumi

Publication type:

Article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Published in:

Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524

By:

Giugliano, Teresa;
Savarese, Marco;
Garofalo, Arcomaria;
Picillo, Esther;
Fiorillo, Chiara;
D'Amico, Adele;
Maggi, Lorenzo;
Ruggiero, Lucia;
Vercelli, Liliana;
Magri, Francesca;
Fattori, Fabiana;
Torella, Annalaura;
Ergoli, Manuela;
Rubegni, Anna;
Fanin, Marina;
Musumeci, Olimpia;
Bleecker, Jan De;
Peverelli, Lorenzo;
Moggio, Maurizio;
Mercuri, Eugenio

Publication type:

Article

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Published in:

Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253

By:

Gonçalves, Ana;
Oliveira, Jorge;
Coelho, Teresa;
Taipa, Ricardo;
Melo-Pires, Manuel;
Sousa, Mário;
Santos, Rosário

Publication type:

Article

Tranilast administration reduces fibrosis and improves fatigue resistance in muscles of mdx dystrophic mice.

Published in:

Fibrogenesis & Tissue Repair, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-1536-7-1

By:

Swiderski, Kristy;
Todorov, Michelle;
Gehrig, Stefan M.;
Naim, Timur;
Chee, Annabel;
Stapleton, David I.;
Koopman, René;
Lynch, Gordon S.

Publication type:

Article

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1254, doi. 10.1038/sj.ejhg.5201478

By:

Tuffery-Giraud, Sylvie;
Saquet, Céline;
Thorel, Delphine;
Disset, Antoine;
Rivier, François;
Malcolm, Sue;
Claustres, Mireille

Publication type:

Article

The 3'-untranslated region of the dystrophin gene--conservation and consequences of loss.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 7, p. 412, doi. 10.1038/sj.ejhg.5200822

By:

Greener, Marc J.;
Sewry, Caroline A.;
Muntoni, Francesco;
Roberts, Roland G.

Publication type:

Article

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 10, p. 793, doi. 10.1038/sj.ejhg.5200535

By:

Ginjaar, Ieke B;
Kneppers, Alexander LJ;
v d Meulen, Jan-Douwe M;
Anderson, Louise VB;
Bremmer-Bout, Mattie;
van Deutekom, Judith CT;
Weegenaar, Jitske;
den Dunnen, Johan T;
Bakker, Egbert

Publication type:

Article

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450

By:

Ligon, Azra H;
Kashork, Catherine D;
Richards, C Sue;
Shaffer, Lisa G

Publication type:

Article

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 179, doi. 10.1038/sj.ejhg.5200253

By:

Kekou, Kiriaki;
Mavrou, Ariadni;
Florentin, Lina;
Youroukos, Sotiris;
Zafiriou, Dimitrios I;
Skouteli, Helen N;
Metaxotou, Catherine

Publication type:

Article

Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 251, doi. 10.1038/sj.ejhg.5200263

By:

Vainzof, M;
Moreira, E S;
Ferraz, G;
Passos-Bueno, M R;
Marie, S K;
Zatz, M

Publication type:

Article

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197205

By:

Mohammed, Fawziah;
Elshafey, Alaa;
Al-balool, Haya;
Alaboud, Hayat;
Al Ben Ali, Mohammed;
Baqer, Adel;
Bastaki, Laila

Publication type:

Article

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Published in:

2024

By:

Shen, Fang;
Zhou, Hui

Publication type:

Case Study

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

Exon-skipping drug pulls ahead in muscular dystrophy field.

Published in:

Nature Medicine, 2012, v. 18, n. 9, p. 1314, doi. 10.1038/nm0912-1314

By:

Opar, Alisa

Publication type:

Article

Muscling in: Gene therapies for muscular dystrophy target RNA.

Published in:

Nature Medicine, 2010, v. 16, n. 2, p. 170, doi. 10.1038/nm0210-170

By:

Chamberlain, Joel R.;
Chamberlain, Jeffrey S.

Publication type:

Article

rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice.

Published in:

Nature Medicine, 2006, v. 12, n. 7, p. 787, doi. 10.1038/nm1439

By:

Gregorevic, Paul;
Allen, James M;
Minami, Elina;
Blankinship, Michael J;
Haraguchi, Miki;
Meuse, Leonard;
Finn, Eric;
Adams, Marvin E;
Froehner, Stanley C;
Murry, Charles E;
Chamberlain, Jeffrey S

Publication type:

Article

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology.

Published in:

Nature Medicine, 2006, v. 12, n. 2, p. 175, doi. 10.1038/nm1345

By:

Alter, Julia;
Fang Lou;
Rabinowitz, Adam;
HaiFang Yin;
Rosenfeld, Jeffrey;
Wilton, Steve D.;
Partridge, Terence A.;
Qi Long Lu

Publication type:

Article

Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: A genetic predisposition to viral heart disease.

Published in:

Nature Medicine, 2002, v. 8, n. 8, p. 872, doi. 10.1038/nm737

By:

Xiong, Dingding;
Lee, Gil-Hwan;
Badorff, Cornel;
Dorner, Andrea;
Lee, Sang;
Wolf, Paul;
Knowlton, Kirk U.

Publication type:

Article

Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3579, doi. 10.3390/ijms26083579

By:

Sarvutiene, Julija;
Ramanavicius, Arunas;
Ramanavicius, Simonas;
Prentice, Urte

Publication type:

Article

Plasma Microvesicles May Contribute to Muscle Damage in the mdx Mouse Model of Duchenne Muscular Dystrophy.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3499, doi. 10.3390/ijms26083499

By:

Cascabulho, Cynthia Machado;
Horita, Samuel Iwao Maia;
Beghini, Daniela Gois;
Menna-Barreto, Rubem Figueiredo Sadok;
Monsores, Ana Carolina Heber Max Guimarães;
Bertho, Alvaro Luiz;
Henriques-Pons, Andrea

Publication type:

Article

Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1685, doi. 10.3390/ijms26041685

By:

Lupu, Maria;
Pintilie, Iustina Mihaela;
Teleanu, Raluca Ioana;
Marin, Georgiana Gabriela;
Vladâcenco, Oana Aurelia;
Severin, Emilia Maria

Publication type:

Article

Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 158, doi. 10.3390/ijms26010158

By:

Baikova, Iuliia P.;
Ilchuk, Leonid A.;
Safonova, Polina D.;
Varlamova, Ekaterina A.;
Okulova, Yulia D.;
Kubekina, Marina V.;
Tvorogova, Anna V.;
Dolmatova, Daria M.;
Bakaeva, Zanda V.;
Kislukhina, Evgenia N.;
Lizunova, Natalia V.;
Bruter, Alexandra V.;
Silaeva, Yulia Yu.

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

Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractileapparatus organization.

Published in:

BMC Genomics, 2010, v. 11, p. 345, doi. 10.1186/1471-2164-11-345

By:

Seno, Mohammad M. Ghahramani;
Trollet, Capucine;
Athanasopoulos, Takis;
Graham, Ian R.;
Pingzhao Hu;
Dickson, George

Publication type:

Article

Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 1, p. 1, doi. 10.1080/15513815.2017.1369201

By:

Jiang, Jingjing;
Jiang, Tiejia;
Xu, Jialu;
Shen, Jue;
Gao, Feng

Publication type:

Article

Prednisolone in Duchenne muscular dystrophy with imminent loss of ambulation.

Published in:

Journal of Neurology, 2006, v. 253, n. 10, p. 1309, doi. 10.1007/s00415-006-0212-1

By:

Pradhan, Sunil;
Ghosh, Debabrata;
Srivastava, Niraj Kumar;
Kumar, Ashok;
Mittal, Balraj;
Pandey, Chandra Mani;
Singh, Uttam

Publication type:

Article

Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy.

Published in:

European Journal of Heart Failure, 2009, v. 11, n. 5, p. 463, doi. 10.1093/eurjhf/hfp028

By:

Bauer, Ralf;
Straub, Volker;
Blain, Alison;
Bushby, Kate;
MacGowan, Guy A.

Publication type:

Article

Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy.

Published in:

Molecular & Cellular Biochemistry, 2024, v. 479, n. 5, p. 1027, doi. 10.1007/s11010-023-04759-3

By:

Alizadeh, Farzaneh;
Abraghan, Yousef Jafari;
Farrokhi, Shima;
Yousefi, Yasamin;
Mirahmadi, Yeganeh;
Eslahi, Atieh;
Mojarrad, Majid

Publication type:

Article

Comparison of surgical and non-surgical treatment for scoliosis in Duchenne muscular dystrophy: a systematic review and meta-analysis.

Published in:

Archives of Orthopaedic & Trauma Surgery, 2025, v. 145, n. 1, p. 1, doi. 10.1007/s00402-025-05811-1

By:

Liang, Haibo;
Shao, Zhenxuan;
Shi, Yifeng;
Wang, Xiangyang

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

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

Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?

Published in:

2022

By:

Hosseini, Seyed Mohammad;
Alizadeh, Nosratollah;
Amini, Abolfazl;
Mohammadi‐Asl, Javad

Publication type:

Case Study