Schwann cell-specific Dp116 is expressed in glioblastoma cells, revealing two novel DMD gene splicing patterns
Sign Up to like & getrecommendations! Published in 2019 at "Biochemistry and Biophysics Reports"
DOI: 10.1016/j.bbrep.2019.100703
Abstract: Background The DMD gene is one of the largest human genes, being composed of 79 exons. Dystrophin Dp116 expressed from the promoter in intron 55 is a Schwann cell-specific isoform. The pathophysiological roles of Dp116… read more here.
Keywords: dmd gene; glioblastoma; dp116 expressed; splicing patterns ... See more keywords
Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2020.04.065
Abstract: Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness,… read more here.
Keywords: dmd gene; duchenne muscle; mutation; muscle dystrophy ... See more keywords
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.08.012
Abstract: Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates… read more here.
Keywords: dmd gene; exome sequencing; small mutation; whole exome ... See more keywords
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of human genetics"
DOI: 10.1038/s10038-022-01035-y
Abstract: Duchenne muscular dystrophy (DMD, MIM #310200) and Becker muscular dystrophy (BMD, MIM #300376) are X-linked recessive hereditary diseases caused by pathogenic variants in the DMD gene. Genetic testing of DMD identifies a certain number of… read more here.
Keywords: variants dmd; dmd gene; dmd; exon intron ... See more keywords
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0564-4
Abstract: PurposeNoninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are… read more here.
Keywords: dmd gene; prenatal screening; copy number; maternal copy ... See more keywords
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000436
Abstract: Abstract The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading… read more here.
Keywords: dmd gene; gene dystrophinopathy; severity; systematic review ... See more keywords
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.01350
Abstract: The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese pedigree. Chromosome karyotype G-banding analysis of the… read more here.
Keywords: dmd gene; diagnosis; sex; integrated analyses ... See more keywords
Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23116160
Abstract: The Prime editing technique derived from the CRISPR/Cas9 discovery permits the modification of selected nucleotides in a specific gene. We used it to insert specific point mutations in exons 9, 20, 35, 43, 55 and… read more here.
Keywords: duchenne muscular; dmd gene; prime editing; muscular dystrophy ... See more keywords
Specificities of the DMD Gene Mutation Spectrum in Russian Patients
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232112710
Abstract: Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which… read more here.
Keywords: russian patients; dmd gene; gene; mutation spectrum ... See more keywords
The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka
Sign Up to like & getrecommendations! Published in 2019 at "Neurology India"
DOI: 10.4103/0028-3886.263235
Abstract: Background: Duchenne muscular dystrophy (DMD), which affects 1 in 3500 newborn males, is the most common fatal neurodegenerative disorder in children. Deletions and duplications in the DMD gene are the most common underlying etiological factors.… read more here.
Keywords: exon involvement; dmd gene; deletion; deletions duplications ... See more keywords