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   Articles with "dmd gene" as a keyword



Schwann cell-specific Dp116 is expressed in glioblastoma cells, revealing two novel DMD gene splicing patterns

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recommendations! 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
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Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene

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recommendations! 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
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Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort

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recommendations! 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
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Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.

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recommendations! 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

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recommendations! 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

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recommendations! 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

A de novo nonsense variant in the DMD gene associated with X‐linked dystrophin‐deficient muscular dystrophy in a cat

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recommendations! Published in 2024 at "Journal of Veterinary Internal Medicine"

DOI: 10.1111/jvim.17078

Abstract: X‐linked dystrophin‐deficient muscular dystrophy (MD) is a form of MD caused by variants in the DMD gene. It is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles. read more here.

Keywords: dystrophin deficient; dmd gene; muscular dystrophy; linked dystrophin ... See more keywords

Disruption of DMD gene leads to altered calcium homeostasis and metabolic shift impacting gastric Cancer cell proliferation and migration

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recommendations! Published in 2025 at "Cancer Cell International"

DOI: 10.1186/s12935-025-03829-4

Abstract: DMD gene has been implicated in the progression and development of several tumors, but its specific contribution to gastric cancer (GC) has not been fully elucidated. We validated DMD gene expression levels in the TIMER2.0… read more here.

Keywords: gene; dmd gene; gastric cancer; cell ... See more keywords

A Novel Mutation (Lys31Arg) in the DMD Gene Impacts on Neuromuscular Dysfunctions found by Whole Exome Sequencing and In Silico Analyses in an Iranian Family.

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recommendations! Published in 2024 at "Current aging science"

DOI: 10.2174/0118746098280408240112112414

Abstract: BACKGROUND Duchene Muscular Disorder (DMD) is a severe X-linked recessive neuromuscular disease. Previous reports predicted that one-third of cases with a fatal X-linked recessive disease will be caused by a novel mutation, and the mutation… read more here.

Keywords: dmd; dmd gene; silico analyses; mutation ... See more keywords

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

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recommendations! 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

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recommendations! 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