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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

15 September 24 Articles ، Hanns Lochmuller ، Theodore Perkins GNE myopathy prevalence estimation ، Population genetic databases and rare diseases ، Underdiagnosed neuromuscular disorders ، Hardy-Weinberg equilibrium in genetic studies ، GNE gene mutations and muscle atrophy ، Regional prevalence differences in GNE myopathy ، Genetic screening for neuromuscular diseases
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases
This research estimates the global prevalence of GNE myopathy using allele frequencies from population genetic databases, highlighting potential underdiagnosis and regional differences.
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Open-label, Blinded, and Double-Blind

11 September 24 Useful information ، Terminology Open-label vs blinded clinical trials ، Single-blind vs double-blind study design ، Types of clinical trial methodologies ، Double-blind study as the gold standard ، Reducing bias in clinical research ، How blinding improves clinical trial accuracy ، Placebo-controlled studies in medicine
This article explains the key differences between open-label, single-blind, and double-blind clinical trial designs, highlighting their impact on research reliability and bias reduction.
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

10 September 24 Articles ، Francesco Muntoni Eteplirsen safety in young boys with DMD ، Exon 51 skipping therapy for Duchenne ، Tolerability and pharmacokinetics of eteplirsen ، DMD exon-skipping treatments ، Pediatric clinical trials in Duchenne dystrophy ، Eteplirsen early intervention studies ، Morpholino oligomer therapy for DMD
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
This open-label trial assesses eteplirsen’s safety in young boys with DMD, confirming its tolerability and predictable pharmacokinetics, but further efficacy studies are needed.
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Duchenne Muscular Dystrophy Awareness Day - A Personal Journey

07 September 24 Duchenne Awareness Day 2024 ، Personal journey in neuromuscular research ، Duchenne muscular dystrophy advocacy ، Hope for DMD patients and families ، Scientific communication for Duchenne ، Biochemistry and neuromuscular disease research ، Duchenne science simplified for families
Duchenne Muscular Dystrophy Awareness Day - A Personal Journey
This article shares a personal journey in Duchenne muscular dystrophy research, from studying biochemistry to creating a website that simplifies scientific findings for families.
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Mitochondrial Function in Muscle Stem Cell Fates

05 September 24 Articles ، Anthony Scimè Mitochondrial function in muscle stem cells ، Satellite cell metabolism and energy production ، Oxidative phosphorylation in muscle regeneration ، Mitochondrial dynamics in stem cell fate ، Reactive oxygen species (ROS) and muscle repair ، Aging and muscle stem cell function ، Mitochondrial interventions in muscle regeneration
Mitochondrial Function in Muscle Stem Cell Fates
This study examines mitochondrial function in muscle stem cells, detailing their role in energy metabolism, differentiation, and regeneration under aging and disease conditions.
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Revised threshold & Historical threshold

03 September 24 Useful information Revised vs historical threshold in medicine ، Medical diagnostic thresholds ، Updated clinical guidelines for drug dosage ، Historical diagnostic criteria vs new standards ، Changes in medical practice thresholds ، Revised cutoff values in pharmacology ، Impact of new research on medical thresholds ، Treatment Guidelines
Revised threshold & Historical threshold
This article explains the differences between revised and historical thresholds in medicine and pharmacology, highlighting their impact on diagnostics, treatment criteria, and drug dosage adjustments.
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Adrenal Suppression From Vamorolone and Prednisone in Duchenne Muscular Dystrophy: Results From the Phase 2b Clinical Trial

03 September 24 Articles ، Utkarsh J. Dang ، Eric P. Hoffman ، Michela Guglieri ، Leanne Ward ، Paula R. Clemens Adrenal suppression in Duchenne dystrophy ، Vamorolone vs prednisone in DMD treatment ، Cortisol thresholds in adrenal function ، Steroid therapy side effects in DMD ، Hydrocortisone for stress dosing in DMD ، ACTH-stimulated cortisol in muscular dystrophy ، Phase 2b clinical trial on vamorolone
Adrenal Suppression From Vamorolone and Prednisone in Duchenne Muscular Dystrophy: Results From the Phase 2b Clinical Trial
This study examines adrenal suppression in Duchenne muscular dystrophy patients treated with vamorolone and prednisone, emphasizing cortisol thresholds and management strategies.
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Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape

29 August 24 Articles ، Toshifumi Yokota Oligonucleotide therapies for FSHD ، DUX4-targeting treatments in muscular dystrophy ، RNA interference for FSHD therapy ، Antisense oligonucleotides in FSHD research ، CRISPR-based gene silencing in FSHD ، Epigenetic therapies for muscular dystrophy ، D4Z4 array repression in FSHD
Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape
This article reviews oligonucleotide-based therapies for facioscapulohumeral muscular dystrophy, highlighting antisense oligonucleotides, RNAi, and CRISPR-based approaches targeting DUX4.
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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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