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Items: 1 to 20 of 440

1.

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.

Tang J, Song X, Ji G, Wu H, Sun S, Lu S, Li Y, Zhang C, Zhang H.

Medicine (Baltimore). 2018 Jun;97(24):e11074. doi: 10.1097/MD.0000000000011074.

2.

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

Mohammed F, Elshafey A, Al-Balool H, Alaboud H, Al Ben Ali M, Baqer A, Bastaki L.

PLoS One. 2018 May 30;13(5):e0197205. doi: 10.1371/journal.pone.0197205. eCollection 2018.

3.

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

Beekman C, Janson AA, Baghat A, van Deutekom JC, Datson NA.

PLoS One. 2018 Apr 11;13(4):e0195850. doi: 10.1371/journal.pone.0195850. eCollection 2018.

4.

[Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene].

Wang Y, Zhu Y, Yang J, Li Y, Sun J, Zhan Y, Zhang C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):14-17. doi: 10.3760/cma.j.issn.1003-9406.2018.01.003. Chinese.

PMID:
29419852
5.

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

Jiang J, Jiang T, Xu J, Shen J, Gao F.

Fetal Pediatr Pathol. 2018 Feb;37(1):1-6. doi: 10.1080/15513815.2017.1369201. Epub 2018 Jan 16.

PMID:
29336709
6.

Altered Biological Properties in Dp71 Over-Expressing HBE Cells.

Tan S, Zhao S, Chen Z, Ma Q, Wang W, Cheng S, Wen Q, Tan S, Xie J.

Cell Physiol Biochem. 2017;43(5):2022-2036. doi: 10.1159/000484181. Epub 2017 Oct 23.

7.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Gherardi S, Bovolenta M, Passarelli C, Falzarano MS, Pigini P, Scotton C, Neri M, Armaroli A, Osman H, Selvatici R, Gualandi F, Recchia A, Mora M, Bernasconi P, Maggi L, Morandi L, Ferlini A, Perini G.

Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1138-1147. doi: 10.1016/j.bbagrm.2017.08.010. Epub 2017 Sep 1.

PMID:
28867298
8.

[Unexpected discovery of a fetus with DMD gene deletion using single nucleotide polymorphism array].

Lin S, Zhou Y, Zhou B, Gu H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):563-566. doi: 10.3760/cma.j.issn.1003-9406.2017.04.021. Chinese.

PMID:
28777860
9.

Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.

Matsumoto M, Awano H, Lee T, Takeshima Y, Matsuo M, Iijima K.

Neuromuscul Disord. 2017 Nov;27(11):1023-1028. doi: 10.1016/j.nmd.2017.06.007. Epub 2017 Jun 19.

PMID:
28734761
10.

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

Zimowski JG, Pawelec M, Purzycka JK, Szirkowiec W, Zaremba J.

J Hum Genet. 2017 Oct;62(10):885-888. doi: 10.1038/jhg.2017.70. Epub 2017 Jul 6.

PMID:
28680110
11.

Normal and altered pre-mRNA processing in the DMD gene.

Tuffery-Giraud S, Miro J, Koenig M, Claustres M.

Hum Genet. 2017 Sep;136(9):1155-1172. doi: 10.1007/s00439-017-1820-9. Epub 2017 Jun 9. Review.

PMID:
28597072
12.

A transcriptome-based assessment of the astrocytic dystrophin-associated complex in the developing human brain.

Simon MJ, Murchison C, Iliff JJ.

J Neurosci Res. 2018 Feb;96(2):180-193. doi: 10.1002/jnr.24082. Epub 2017 May 16.

13.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

Zimowski JG, Pilch J, Pawelec M, Purzycka JK, Kubalska J, Ziora-Jakutowicz K, Dudzińska M, Zaremba J.

J Appl Genet. 2017 Aug;58(3):343-347. doi: 10.1007/s13353-017-0391-8. Epub 2017 Feb 28.

14.

Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells.

Farruggio AP, Bhakta MS, du Bois H, Ma J, P Calos M.

Biotechnol J. 2017 Apr;12(4). doi: 10.1002/biot.201600477. Epub 2017 Mar 15.

PMID:
28139886
15.

Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy.

Nakamura A, Shiba N, Miyazaki D, Nishizawa H, Inaba Y, Fueki N, Maruyama R, Echigoya Y, Yokota T.

J Hum Genet. 2017 Apr;62(4):459-463. doi: 10.1038/jhg.2016.152. Epub 2016 Dec 15.

PMID:
27974813
16.

Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot.

Suzuki H, Aoki Y, Kameyama T, Saito T, Masuda S, Tanihata J, Nagata T, Mayeda A, Takeda S, Tsukahara T.

Int J Mol Sci. 2016 Oct 13;17(10). pii: E1722.

17.

Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.

Zhong J, Xu T, Chen G, Liao H, Zhang J, Lan D.

Muscle Nerve. 2017 Jul;56(1):117-121. doi: 10.1002/mus.25435. Epub 2017 Feb 3.

PMID:
27750387
18.

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH.

Muscle Nerve. 2017 May;55(5):727-734. doi: 10.1002/mus.25396. Epub 2017 Jan 20.

PMID:
27593222
19.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Bello L, Campadello P, Barp A, Fanin M, Semplicini C, Sorarù G, Caumo L, Calore C, Angelini C, Pegoraro E.

Sci Rep. 2016 Sep 1;6:32439. doi: 10.1038/srep32439.

20.

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

Falzarano MS, D'Amario D, Siracusano A, Massetti M, Amodeo A, La Neve F, Maroni CR, Mercuri E, Osman H, Scotton C, Armaroli A, Rossi R, Selvatici R, Crea F, Ferlini A.

Hum Gene Ther. 2016 Oct;27(10):772-783. doi: 10.1089/hum.2016.079.

PMID:
27530229

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