DMD Antibody

1. Case Report: dystrophin mutation (p.1667 del Ala), resulting in Becker muscular dystrophy-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle. PMID: 30103083
2. DMD gene mutations involving the hinge 3 region, actin-binding domain, and exons 45-49, as well as the LTBP4 IAAM haplotype, were not associated with age of left ventricular dysfunction onset inDuchenne muscular dystrophy. PMID: 29766838
3. we found a new 9358-9359insA mutation of the dystrophy gene in a Chinese boy with muscular dystrophy and his mother PMID: 29336709
4. Mutation spectrum analysis of DMD gene causing Duchenne/Becker muscular dystrophy in 68 families in Kuwait has been reported. PMID: 29847600
5. Low dystrophin expression is associated with Becker and Duchenne muscular dystrophy. PMID: 29641567
6. This study characterize the developmental profile of dystrophin expression across human brain regions to define the temporal profile of astrocytic endfoot development. PMID: 28509351
7. A novel small mutation in the first exon-intron boundary splicing site of the DMD gene was found, in a patient with higher serum CK level in his family. This small mutation is responsible for X-linked dilated cardiomyopathy. PMID: 29901616
8. new mutations in Duchenne muscular dystrophy/Becker muscular dystrophy patients with deletions were significantly more frequent than in those with duplications and small mutations. PMID: 28680110
9. Ambulant and steroid naive Japanese Duchenne muscular dystrophy was shown significantly shorter than normal. In addition, Becker muscular dystrophy was slightly shorter than normal. This suggested that levels of dystrophin expression is associated with short stature. The fact that the higher incidence of the short stature was observed in Dp71 subgroup suggested a role of Dp71 in growth. PMID: 28734761
10. Data indicate that Becker muscular dystrophy (BMD) patients carrying deletions of the rod domain of the exons in dystrophin gene. PMID: 29419852
11. It has been concluded that patients with dystrophin "del x-51" or "del 48" mutations have mild or asymptomatic Becker muscular dystrophy, while "del 45-x" mutations cause comparatively severe weakness, and functional deterioration in 1 year. PMID: 27582364
12. The study and validation of DMD as a new player in tumor development and as a new prognostic factor for tumor progression and survival are warranted. PMID: 27391342
13. The entire DMD locus is dynamically transcribed by the RNA pol II; mechanisms involved in dystrophin gene expression control. PMID: 28867298
14. suggests that Dp71-lamin B1 protein complex plays an important role for the newly identified tumor suppressive function of Dp71 PMID: 27449096
15. Via increasing FAK in the cytoplasmic FAK-Dp71 , lamin B1 of nucleus laminB1-Dp71 complex, HBE-Dp71d and HBE-Dp71f cells alter their proliferation, migration, invasion, cell cycle and apoptosis rate induced by H2O2. PMID: 29059680
16. Hence MyoD-transformed cells may be a good myogenic model for studying dystrophin gene expression, and native urine stem cells could be used to study the dystrophin transcript, and both diagnostic procedures and splicing modulation therapies in both patients and control subjects, without invasive and costly collection methods PMID: 27530229
17. The de novo deletion of exons 17 to 29 of the DMD gene detected in the fetus may result in BMD or DMD. PMID: 28777860
18. recent work demonstrating that multi-step events are required for long DMD intron removal. The role of temporary intron retention in the occurrence of alternative splicing events is also discussed. PMID: 28597072
19. Study provides evidence that dystrophin contains multiple independent membrane-binding domains. These structurally and functionally distinctive membrane-binding domains provide a molecular framework for dystrophin to function as a shock absorber and signaling hub. PMID: 27378693
20. ultiplex ligation-dependent probe amplification combined with next-generation sequencing was effective for detection of the mutations in dystrophin gene exons in patient with Duchenne and Becker muscular dystrophies. PMID: 27750387
21. a very infrequently reported deletion of a single exon 48 of the dystrophin gene caused a subclinical or very mild form of Becker muscular dystrophy in nine non-consanguineous families PMID: 28247318
22. This study describe a series of patients of Greek origin who carry a c.5068_5070delCAC mutation in the DMD gene. PMID: 27178005
23. These data support the hypothesis that skewed XCI is involved in the onset of phenotype in DMD carriers, the X chromosome carrying the normal DMD gene being preferentially inactivated and leading to a moderate-severe muscle involvement. PMID: 27098336
24. DMD reversion leads to somatic mosaicism in DMD patient. PMID: 26956251
25. In this study, we focused on the phenotype of patients with BMD, who had in-frame deletion starting at exon 45 of the DMD gene, to investigate the appropriate restoration of the reading frame by exon skipping therapy PMID: 27974813
26. It concluded that Dp71, comprising Dp71b and Dp71ab, was expressed exclusively in HEK293 cells and that Dp71ab was specifically localized to the nucleus. Our findings suggest that Dp71ab in the nucleus contributes to the diverse functions of HEK293 cells. PMID: 27109495
27. This study aimed to provide in vitro quantitative evidence of the ability of human mesoangioblasts to restore dystrophin, in terms of protein accumulation and distribution, within myotubes derived from patients with Duchenne muscular dystrophy. PMID: 27502519
28. In TMD patients, a novel locus at genome-wide level of significance (rs73460075, OR = 0.56, P = 3.8 x 10(-8)) in the intron of the dystrophin gene DMD (X chromosome), and a suggestive locus on chromosome 7 (rs73271865, P = 2.9 x 10(-7)) upstream of the Sp4 Transcription Factor ( SP4) gene were identified in the discovery cohort, but neither of these was replicated. PMID: 28081371
29. As exon 44 skipping-amenable DMD has a later loss of ambulation, mutation-specific randomization and selection of placebo groups are essential for the success of clinical trials PMID: 27343068
30. We focused on four prevalent mutated proteins deleted in RDelta45-47, RDelta45-48, RDelta45-49, and RDelta45-51, analyzing protein/membrane interactions. Mutants RDelta45-48 and RDelta45-51 led to mild pathologies and displayed a similar triple coiled-coil structure as the full-length DYS R16-21, whereas the two others, RDelta45-47 and RDelta45-49, induced more severe pathologies and showed "fractional" structures unre... PMID: 27367833
31. The dystrophin expression plasmids described here will be useful in cell and gene therapy studies aimed at ameliorating Duchenne muscular dystrophy PMID: 28139886
32. In Korean boys, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. PMID: 27593222
33. Detected are the expression of endogenous exons 44-56 connected mRNA transcript of the DMD using total RNAs derived from human normal skeletal muscle by reverse transcription polymerase chain reaction and identified are a total of eight types of multiple exon skipping products around the mutation hotspot. PMID: 27754374
34. Multiplex Ligation Probe Amplification identified 56 mutations (45 deletions, 9 duplications and 2 point mutations), confirmed the clinical diagnosis in 63% (51/81) of patients and symptomatic females, established the carrier status of 54% (20/37) of females at-risk and 3 male villus samples, established an association between the most frequent deletion intron breakpoints and the abundance of dinucleotide microsatellites PMID: 27206868
35. Thus using NGS we have identified a pathogenic DMD mutation from degraded DNA and low-level somatic mosaicism, which would have been overlooked using Sanger sequencing. PMID: 26740235
36. Four nonsense, one frameshift and two splice site mutations as well as two missense variants have been found in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients. PMID: 27350676
37. Four missense mutations (p.Arg2937Gln, p.Asp882Gly, p.Lys2366Gln, and p.Arg1745His) that are known multiple-polymorphic sites were found in the coding region of the DMD gene. A hemizygous splicing mutation IVS44ds +1G-A (c.6438 +1G>A) was located in intron 44. PMID: 27421007
38. Results provide evidence for recursive splicing in the dystrophin transcript and that the order at which introns are removed is not consecutive. PMID: 26670121
39. DMD mutations affecting different DMD isoforms associate with characteristically abnormal scotopic ERGs and severe neurodevelopmental problems in Duchenne muscular dystrophy patients. PMID: 26081639
40. DMD gene mutations may be suspected in girls child with persistently elevated levels of creatine kinase and scoliosis, calf hypertrophy, or myopathic pattern at electromyography. PMID: 26718981
41. the deletion patterns and distribution characteristics of the dystrophin gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy, are reported. PMID: 26786758
42. The range of phenotypes associated with the region Xp21 has been expanding. Mild end of the spectrum includes phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, at the severe end, there are progressive muscle diseases. PMID: 25416089
43. attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy PMID: 26631896
44. Males with mutations at the 3' end of the DMD gene affecting all protein isoforms have higher rates of intellectual disability and clusters of neurodevelopmental, emotional, and behavioural symptoms in Duchenne muscular dystrophy. PMID: 26365034
45. Study determined the frequency of dystrophin gene alterations in Iranian Duchenne and Becker muscular dystrophies patients using two new proposed sets of primer pairs of M-PCR to facilitate further mutation detection in patients and their families PMID: 26081009
46. Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PMID: 26974331
47. Mutations of Dystrophin and Duchenne and Becker muscular dystrophies (review). PMID: 26295289
48. Data show that viral vector-mediated transient designer nuclease expression leads to permanent and regulated dystrophin synthesis from corrected native Duchenne muscular dystrophy (DMD) alleles. PMID: 26762977
49. microRNAs contribute to variable dystrophin levels in muscular dystrophy. PMID: 26321630
50. Knocking down Dp71 expression can significantly inhibit the A549 xenograft tumor growth in nude mice. PMID: 26691328

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HGNC: 2928

OMIM: 300376

KEGG: hsa:1756

STRING: 9606.ENSP00000354923

UniGene: Hs.495912