FSHD NEWS over the world.
Research and patients networks
#FSHD #FacioScapuloHumeral #CureFSHD
#WorldFSHDDay = June 20th
👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD
💡The history of DUX4, fromgenetic linkage studies in the early 1990s, through to identificationof the DUX4 gene in 1999
📰https://pubmed.ncbi.nlm.nih.gov/40855454/
Alexandra Belayew , Alberto L Rosa & Peter S Zammit
👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD
💡The history of DUX4, fromgenetic linkage studies in the early 1990s, through to identificationof the DUX4 gene in 1999
📰https://pubmed.ncbi.nlm.nih.gov/40855454/
Alexandra Belayew , Alberto L Rosa & Peter S Zammit
👉Iron supplementation alleviates pathologies in a mouse model of #FSHD
💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway
📰https://jci.org/articles/view/181881
(pdf) jci.org/articles/vie...
👉Iron supplementation alleviates pathologies in a mouse model of #FSHD
💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway
📰https://jci.org/articles/view/181881
(pdf) jci.org/articles/vie...
@Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on #FSHD using universal #iPS cells
www.prnewswire.com/news-release...
@Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on #FSHD using universal #iPS cells
www.prnewswire.com/news-release...
👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis
💡Automatic pipeline for muscle ultrasound analysis, leveraging machine for segmentation, classification, and quantitative Heckmatt grading
📰https://pubmed.ncbi.nlm.nih.gov/40020544/
👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis
💡Automatic pipeline for muscle ultrasound analysis, leveraging machine for segmentation, classification, and quantitative Heckmatt grading
📰https://pubmed.ncbi.nlm.nih.gov/40020544/
👉Strength and functional correlates of reachable workspace in #FSHD
Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing
pubmed.ncbi.nlm.nih.gov/39978161/
👉Strength and functional correlates of reachable workspace in #FSHD
Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing
pubmed.ncbi.nlm.nih.gov/39978161/
👉Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature
💡#FSHD:
#Incidence rate 0.3
#Prevalence rate-Mean /100,000: 5
Prevalence rate-Range/100,000: 0.79–12
📰https://journals.sagepub.com/doi/abs/10.1177/22143602241313118
👉Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature
💡#FSHD:
#Incidence rate 0.3
#Prevalence rate-Mean /100,000: 5
Prevalence rate-Range/100,000: 0.79–12
📰https://journals.sagepub.com/doi/abs/10.1177/22143602241313118
💡mice recapitulates characteristics of FSHD, ; alterations to mitochondria, RNA metabolism, oxidative stress, and apoptosis.
📰 www.biorxiv.org/content/10.1...
💡mice recapitulates characteristics of FSHD, ; alterations to mitochondria, RNA metabolism, oxidative stress, and apoptosis.
📰 www.biorxiv.org/content/10.1...
👉Sarcolemmal dysfunction in #FSHD: An assessment using muscle velocity recovery cycles
💡The study suggests that functional changes in muscle membrane properties occur early in FSHD
📑https://pubmed.ncbi.nlm.nih.gov/40085998/
👉Sarcolemmal dysfunction in #FSHD: An assessment using muscle velocity recovery cycles
💡The study suggests that functional changes in muscle membrane properties occur early in FSHD
📑https://pubmed.ncbi.nlm.nih.gov/40085998/
👉Muscle imaging in #FSHD research: A scoping review and expert recommendations
💡A specific muscle ultrasound protocol is suitable for diagnosis and has potential as both a prognostic and monitoring biomarker in FSHD research.
📑 www.nmd-journal.com/article/S096...
👉Muscle imaging in #FSHD research: A scoping review and expert recommendations
💡A specific muscle ultrasound protocol is suitable for diagnosis and has potential as both a prognostic and monitoring biomarker in FSHD research.
📑 www.nmd-journal.com/article/S096...
👉High prevalence of #FSHD and inflammatory myopathies association: Is there an interplay ?
💡Prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40
📰https://pubmed.ncbi.nlm.nih.gov/39855012/
👉High prevalence of #FSHD and inflammatory myopathies association: Is there an interplay ?
💡Prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40
📰https://pubmed.ncbi.nlm.nih.gov/39855012/
👉Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with #FSHD
💡These findings suggest that such training supports muscle regeneration without accelerating cellular aging.
t.co/yLMeTn0rsy
👉Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with #FSHD
💡These findings suggest that such training supports muscle regeneration without accelerating cellular aging.
t.co/yLMeTn0rsy
👉The Unexplored Role of Connexin Hemichannels in Promoting #FSHD Progression
💡FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function
pmc.ncbi.nlm.nih.gov/articles/PMC...
👉The Unexplored Role of Connexin Hemichannels in Promoting #FSHD Progression
💡FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function
pmc.ncbi.nlm.nih.gov/articles/PMC...
👉The distribution of #D4Z4 repeats in #China and direct prenatal diagnosis of #FSHD by optical genome mapping
💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis
t.co/1mpXs68lxp
👉The distribution of #D4Z4 repeats in #China and direct prenatal diagnosis of #FSHD by optical genome mapping
💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis
t.co/1mpXs68lxp
👉Bilateral foot drop as presenting feature of #FSHD 1
💡The relevance of a thorough clinical examination, accompanied by conventional diagnostic applications to obtain a correct #genetic #diagnosis
📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11722158/
👉Bilateral foot drop as presenting feature of #FSHD 1
💡The relevance of a thorough clinical examination, accompanied by conventional diagnostic applications to obtain a correct #genetic #diagnosis
📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11722158/
👉Sternal Reconstruction for Refractory Pectus Excavatum From #FSHD
💡Successful implantation of a customized sternal plate in the treatment of a patient with refractory pectus excavatum
t.co/rvqXQzECCh
👉Sternal Reconstruction for Refractory Pectus Excavatum From #FSHD
💡Successful implantation of a customized sternal plate in the treatment of a patient with refractory pectus excavatum
t.co/rvqXQzECCh
💡In 14/18 patients, we identified FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders.
📰https://pubmed.ncbi.nlm.nih.gov/39775061/
💡In 14/18 patients, we identified FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders.
📰https://pubmed.ncbi.nlm.nih.gov/39775061/
👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways
💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD.
pmc.ncbi.nlm.nih.gov/articles/PMC...
👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways
💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD.
pmc.ncbi.nlm.nih.gov/articles/PMC...
The phase angle of FSHD patients is lower than healthy controls.
onlinelibrary.wiley.com/doi/10.1002/...
The phase angle of FSHD patients is lower than healthy controls.
onlinelibrary.wiley.com/doi/10.1002/...
👉SMCHD1 genetic variants in type 2 #FSHD & challenges in predicting pathogenicity & disease penetrance
💡The intriguing relationship between D4Z4 methylation, SMCHD1 variants with SMCHD1 protein structure-function in FSHD
www.nature.com/articles/s41...
👉SMCHD1 genetic variants in type 2 #FSHD & challenges in predicting pathogenicity & disease penetrance
💡The intriguing relationship between D4Z4 methylation, SMCHD1 variants with SMCHD1 protein structure-function in FSHD
www.nature.com/articles/s41...
👉Age at onset mediates genetic impact on disease severity in #FSHD
💡Independent contributions from D4Z4 repeat units, D4Z4 methylation levels, mosaic mutation and inheritance pattern on age at onset variation
📰 pubmed.ncbi.nlm.nih.gov/39711249/
👉Age at onset mediates genetic impact on disease severity in #FSHD
💡Independent contributions from D4Z4 repeat units, D4Z4 methylation levels, mosaic mutation and inheritance pattern on age at onset variation
📰 pubmed.ncbi.nlm.nih.gov/39711249/
👉Longitudinal Insights Into Childhood Onset #FSHD: A 5-Year Natural History Study
💡This study contributes to improved counseling for children and their parents
📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11655134/
👉Longitudinal Insights Into Childhood Onset #FSHD: A 5-Year Natural History Study
💡This study contributes to improved counseling for children and their parents
📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11655134/
👉Identifica0tion of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne MD FSHD
💡Circulating extracellular vesicle content disease-specific protein biomarkers for DBMD & FSHD
📰 pubmed.ncbi.nlm.nih.gov/39649602/
👉Identifica0tion of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne MD FSHD
💡Circulating extracellular vesicle content disease-specific protein biomarkers for DBMD & FSHD
📰 pubmed.ncbi.nlm.nih.gov/39649602/
👉SOLVE FSHD, a venture philanthropy organization dedicated to accelerate new therapies, is calling on innovators worldwide to compete for the USD$10 million #FSHD Bonus Prize
📰 www.businesswire.com/news/home/20...
👉SOLVE FSHD, a venture philanthropy organization dedicated to accelerate new therapies, is calling on innovators worldwide to compete for the USD$10 million #FSHD Bonus Prize
📰 www.businesswire.com/news/home/20...
💡Involvement of SIX transcription factors in the promotion of #DUX4 expression epigenetic derepression of the #D4Z4 repeats.
📰https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-024-00361-3
👉Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset #FSHD
💡Confirmation of #D4Z4 repeat reduction, particularly in cases involving parental #mosaicism
📰https://www.sciencedirect.com/science/article/abs/pii/S0009898124023155?via%3Dihub
👉Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset #FSHD
💡Confirmation of #D4Z4 repeat reduction, particularly in cases involving parental #mosaicism
📰https://www.sciencedirect.com/science/article/abs/pii/S0009898124023155?via%3Dihub