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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

28 August 24 Articles ، Volker Straub ، Peter Meinke ، Alastair R.W. Kerr ، Rafal Czapiewski ، Jose I. de las Heras ، Benedikt Schoser ، Heike Kolbel ، Eric C. Schirmer Emery-Dreifuss muscular dystrophy genetics ، Gene misregulation in EDMD ، Multistage sequencing for neuromuscular disorders ، Nuclear envelope proteins and muscular dystrophy ، Pathomechanisms of Emery-Dreifuss dystrophy ، Exome sequencing for dystrophy diagnosis ، Genetic heterogeneity in muscular dystrophies
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
This study utilizes a multistage sequencing strategy to uncover novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as a key pathomechanism.
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MitoNEET preserves muscle insulin sensitivity during ironoverload by regulating mitochondrial iron, reactive oxygenspecies and fission

27 August 24 Articles ، Gary Sweeney MitoNEET and insulin sensitivity ، Iron overload and muscle metabolism ، Mitochondrial iron regulation in diabetes ، Reactive oxygen species (ROS) and insulin resistance ، MitoNEET as a metabolic protector ، Mitochondrial fission and insulin resistance ، Iron toxicity and glucose metabolism
MitoNEET preserves muscle insulin sensitivity during ironoverload by regulating mitochondrial iron, reactive oxygenspecies and fission
Explore how MitoNEET preserves muscle insulin sensitivity during iron overload by regulating mitochondrial iron, ROS levels, and mitochondrial fission.
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An update on Becker muscular dystrophy

26 August 24 Articles ، Volker Straub ، Michela Guglieri Becker muscular dystrophy research updates ، BMD natural history and clinical trials ، New treatments for Becker muscular dystrophy ، Gene therapy for BMD patients ، Exon skipping therapies in Becker dystrophy ، HDAC inhibitors for muscular dystrophy ، Clinical trial challenges in BMD
An update on Becker muscular dystrophy
This article provides an update on Becker muscular dystrophy research, highlighting advances in diagnosis, natural history studies, and emerging treatment approaches.
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High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy

25 August 24 Articles ، Kanneboyina Nagaraju ، Michael W Lawlor ، David L Mack ، Allison D Ebert HMGB1 biomarker for Duchenne dystrophy ، DMD progression and gene therapy markers ، Microdystrophin therapy monitoring ، High mobility group box 1 in muscular dystrophy ، VCAM1 vs HMGB1 in DMD diagnostics ، RNA sequencing in Duchenne dystrophy research ، Biomarkers for muscle degeneration in DMD
High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy
Explore the role of HMGB1 as a potential biomarker for Duchenne muscular dystrophy, monitoring disease progression and gene therapy efficacy.
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Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings

13 August 24 Articles ، Antoni Borrell Prenatal exome sequencing for genetic disorders ، Ultrasound findings and genetic diagnosis ، Chromosomal microarray vs exome sequencing ، Monogenic disorders in prenatal screening ، Copy number variants (CNVs) in fetal diagnostics ، Exome sequencing in high-risk pregnancies ، Genetic testing for developmental disorders in fetuses
Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
This study evaluates the role of prenatal exome sequencing in detecting genetic disorders in fetuses with ultrasound findings, comparing its utility to chromosomal microarray analysis.
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Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy

12 August 24 Articles Autophagy dysregulation in DMD ، FoxO and TFEB in Duchenne dystrophy ، mTORC1 pathway and muscle degeneration ، Resveratrol therapy for muscular dystrophy ، Transcriptional regulation of autophagy ، SIRT1 activators and DMD treatment ، Phosphorylation-mediated suppression of FoxOs
Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy
This study explores autophagy dysregulation in Duchenne muscular dystrophy, highlighting FoxO and TFEB inactivation and resveratrol's role in restoring autophagy.
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REST/NRSF preserves muscle stem cell identity and survival by repressing alternate cell fates

11 August 24 Articles ، Michael A. Rudnicki ، Vahab Soleimani ، Guillaume Bourque ، Arezu Jahani-Asl ، Yasuhiro Yamada ، Tony Kwan REST/NRSF and muscle stem cells ، Regulation of muscle stem cell fate ، Epigenetic control in muscle regeneration ، Stem cell identity and REST function ، REST deletion and muscle atrophy ، Apoptosis in muscle stem cells ، Regenerative capacity of MuSCs
REST/NRSF preserves muscle stem cell identity and survival by repressing alternate cell fates
This study explores the role of REST/NRSF in preserving muscle stem cell identity by repressing non-muscle genes, ensuring proper regeneration and self-renewal.
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Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges

10 August 24 Articles ، Toshifumi Yokota Gene therapy for spinal muscular atrophy ، SMA gene-targeting treatments ، Antisense oligonucleotide therapy for SMA ، Onasemnogene abeparvovec gene replacement ، Risdiplam small molecule treatment ، Challenges in SMA therapies ، SMN1 and SMN2 gene therapy
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges
This review discusses gene-targeting therapies for spinal muscular atrophy, covering antisense oligonucleotides, gene replacement, small molecules, and treatment challenges.
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Glucose Metabolism as a Pre-clinical Biomarker for the Golden Retriever Model of Duchenne Muscular Dystrophy

22 May 24 Articles Glucose metabolism in muscular dystrophy ، GRMD biomarker for Duchenne dystrophy ، PET/CT imaging in DMD research ، GLUT4 expression in dystrophic muscle ، Metabolic dysfunction in Duchenne muscular dystrophy ، Pre-clinical biomarkers for DMD ، Insulin response in muscular dystrophy models
Glucose Metabolism as a Pre-clinical Biomarker for the Golden Retriever Model of Duchenne Muscular Dystrophy
This study evaluates glucose metabolism as a biomarker in the GRMD model of Duchenne muscular dystrophy, analyzing GLUT4 expression, PET/CT imaging, and metabolic regulation.
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Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy

22 May 24 Articles DuchenneMuscularDystrophy ، BeckerMuscularDystrophy ، PatientCare ، DMDResearch ، MedicalResearch ، دیستروفی_عضلانی_بکر ، بیماری‌های_نادر ، GeneticDisorders ، MuscleResearch ، GlucoseTolerance ، MetabolicHealth ، BMDResearch ، ClinicalStudy ، DiabetesAwareness ، HealthScience ، ImpairedGlucoseTolerance ، Metabolism ، تحمل_گلوکز ، اختلالات_ژنتیکی ، مقاومت_انسولینی
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy
  Abstract This study aimed to evaluate glucose tolerance in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) using an oral glucose tolerance test (OGTT). The study investigated whether body composition influences glucose response. Participants: 28 adults with dystrophinopathy (13 BMD, 15 DMD) and 12 non-dystrophic controls. Method: 75g glucose ingestion with fingertip blood sampling every 30 minutes for 2 hours. Results: Higher glucose levels in …
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