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Discussions demonstrate strong interest and engagement through expressions like 'impact of micronuclei on immune activation' and mentions of specific mechanisms such as the cGAS sensor, emphasizing the article’s importance in understanding immune responses to DNA damage. The tone is analytical and curious, with examples like praise for the research's role in cancer and infection processes, indicating a solid appreciation of its scientific impact.
Many discussions acknowledge the significance of the research, with some explicitly praising its findings or implications related to immune responses and micronuclei.
Posts repeatedly reference the complexity of genetic and cellular mechanisms, indicating a high level of curiosity and engagement with the topic.
Several comments cite specific techniques, findings, or potential applications, showing deep interaction with the material.
Some discussions highlight the potential for this research to influence disease understanding and future therapies, though most focus on advancing scientific knowledge rather than immediate clinical change.
Our latest review on macrophages Macrophages: sentinels, warriors, and healers url:https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddaf087/8158008 academic.oup.com/hmg/advance-...
Three papers used the same data, two papers were corrected and the third has an Expression of Concern (due to the data). Does this make sense? The PI was mentioned in the book "Doctored" by Charles Piller. https://t.co/fw83WYOJF4 ➡️ The correction (10.1093/hmg/ddad040) to the https://t.co/4B9PDLPcP8
Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
Genetic dissection of Huntington’s disease modification by variation at RRM2B https://t.co/whoAEX2hGM https://t.co/ywDcT9LzNv
New work with ChIP-seq and behavioral roles for Williams Syndrome locus genes Gtf2i and Gtf2ird1 is out today! Great work by lab alum Nathan Kopp, Kayla Nygaard, and the team! https://t.co/Dti7KHUv23
Latest Issue: https://t.co/4HGtZuJUfG Cover article: https://t.co/iCxzx0Paiy https://t.co/qRMPRSXlmm
This video discusses how the environment influences gene expression and the development of chronic diseases, emphasizing that we are not victims of our genes. We have the power to change through conscious choices and…
Up to 80% of women experience uterine fibroids during their lives. Often, there's uncertainty whether these are potentially cancerous. However, fibroids and malignant sarcomas are entirely different conditions…
Explores how FLNA deficiency impacts human health, highlighting its role in disease mechanisms and recent research findings.
The human brain is always working, coordinating various areas for tasks like talking or walking. Contrary to myths, we use all of our brain at different times. Recent research suggests that creatine supplementation may…
Huge win this fatal disease in infants could be tackled with an already FDA-approved drug. Sandhoff Disease is a neurodegenerative genetic disease that can lead to early deaths in infants typically by the age of 3 or 4…
In the Biofotonics laboratory at CIO, we study the neurodegenerative disease HABC, applying nonlinear microscopy methods like second harmonic generation to exploit the optical and molecular properties of nervous system…
Mitochondrial disease affects approximately 1 in 4300 adults due to mutations in mitochondrial and nuclear DNA. Advances in genetic testing have improved diagnosis and understanding of these inherited neurological…
This video discusses research on statistical inference of causal genomic variants underlying neurodegenerative conditions like Parkinsons, Alzheimers, and ALS, highlighting the cell type-specific mechanisms involved.
This video discusses the influence of mitophagy on amyloid-β and tau pathology, revealing its potential to reverse cognitive deficits in Alzheimer's disease models. It features insights from various scientific studies…
Explore the phenomenon of absolute pitch, its prevalence among different cultures, and how early language exposure influences this rare musical ability, primarily studied among Chinese and American conservatory students.
Micronuclei, small extranuclear bodies containing damaged DNA, play a crucial role in activating the immune response triggered by DNA damage through the cytoplasmic DNA sensor cGAS, influencing responses in infections…
This video explores the origins of absolute pitch, analyzing innate and behaviorist arguments and their implications, especially in relation to linguistic and cultural influences on pitch perception and acquisition.
This week, Dr. John Mandrola discusses new research on left atrial appendage closure outcomes and the potential benefits of DNA statins in the elderly, highlighting recent studies and their clinical implications for…
Micronuclei, small extranuclear bodies containing damaged DNA, are crucial in activating immune responses triggered by DNA damage. Recent studies highlight their role as platforms for immune activation via the cGAS…
This week we look to deunk myths about rising autism rates and explain the genetic and environmental factors at play while exploring the resurrection of dire wolves through genetic engineering and how puppy cognition…
Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa https://t.co/aOfQ7l9r5Z
RT @hmg_journal: Impact of somatic XIST deletions on ongoing XIST expression and inactive X silencing and heterochromatin https://t.co/3wmj…
Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations https://t.co/B2aGqyHN2J
RT @Matt_Muscle_Guy: Congrats to Alan Beggs & colleagues for their new @hmg_journal paper: Loss of adenylosuccinate synthetase 1 in mice re…
Congrats to Alan Beggs & colleagues for their new @hmg_journal paper: Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy. https://t.co/r4clYlVav1
N-Lactoyl amino acids: insights from metabolite genome-wide association studies and phenome-wide association analysis https://t.co/dvy9qV8YWh
RT @ScienceofPD: Interesting - Researcher extend previous studies indicating that inhibition or genetic reduction of ASAH1/acid ceramidase…
Haploinsufficiency of Runx2 restores the cranial sutures in a mouse model of Pdgfrb-related craniosynostosis https://t.co/CspZ0ufF2o
Breast cancer genetic testing uptake in the Midwest, USA: a systematic review of barriers and facilitators among minority populations https://t.co/y2t09HTFxS
Impact of somatic XIST deletions on ongoing XIST expression and inactive X silencing and heterochromatin https://t.co/3wmjv0hvZR https://t.co/ZjUQv9CoGF
Interesting - Researcher extend previous studies indicating that inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from #Parkinsons, via rescue of TFEB-dependent lysosomal functions https://t.co/kp8gh208Pn https://t.co/RuSKbDcYat
RT @hmg_journal: Genetic dissection of Huntington’s disease modification by variation at RRM2B https://t.co/whoAEX2hGM https://t.co/ywDcT9L…
Genetic dissection of Huntington’s disease modification by variation at RRM2B https://t.co/whoAEX2hGM https://t.co/ywDcT9LzNv
WDR45 deficiency shortens axon length in dopaminergic neurons from patient-derived iPSCs https://t.co/ExdNelKVL9 https://t.co/PBeqKXoHth
Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family https://t.co/lGioDJqQYr https://t.co/LgBUVPgFaB
Diagnostic, prognostic, and immune-related roles of G3BP1 in pan-cancer https://t.co/KPrt6Z1nhB https://t.co/ExbY2BTSIV
RT @hmg_journal: Three decades of caspases and RIPKs in life and death https://t.co/VxlVKQRU0w https://t.co/QpKkY7WPMR
RT @hmg_journal: Recent insights into the role of innate immunity in lupus https://t.co/5fxOsDRjvV https://t.co/f9dfULPota
RT @FranMartinezGr: Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans #RareDisease #Genetics https://t.co/AOOtmUQ…
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice https://t.co/oNieMo9LTs https://t.co/Ls57HAYrcw
ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation https://t.co/BDMJWcFvLF https://t.co/Get8ZueJ0m
Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts https://t.co/vSgYiNBavq https://t.co/WL851PCtoD
RT @hmg_journal: New: Volume 34, Issue 21, 1 November 2025 Cover: Isogenic embryonic stem cell (ESC) line development, differentiation, an…
New: Volume 34, Issue 21, 1 November 2025 Cover: Isogenic embryonic stem cell (ESC) line development, differentiation, and transcriptomic analysis to model the NACC1 neurodevelopmental disorder https://t.co/BDMJWcFvLF https://t.co/VUi8tjmMCy
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans #RareDisease #Genetics https://t.co/AOOtmUQOSh https://t.co/zP6WWVPU8s
RT @STITCHESMed: Lower levels of the MRE11-ATLD1 variant cause severe disease symptoms, while higher expression mitigates phenotype severit…
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect https://t.co/K1xHgkDA8E https://t.co/8xwidAeceU
RT @hmg_journal: Recent insights into the role of innate immunity in lupus https://t.co/5fxOsDRjvV https://t.co/f9dfULPota
Recent insights into the role of innate immunity in lupus https://t.co/5fxOsDRjvV https://t.co/f9dfULPota
Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles https://t.co/ZKfwBisLvP https://t.co/aRZLBSFlQ3
RT @hmg_journal: Three decades of caspases and RIPKs in life and death https://t.co/VxlVKQRU0w https://t.co/QpKkY7WPMR
Three decades of caspases and RIPKs in life and death https://t.co/VxlVKQRU0w https://t.co/QpKkY7WPMR
RT @hmg_journal: A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome https://t.co/TX9BAD7DjL https:/…
A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome https://t.co/TX9BAD7DjL https://t.co/4u0639Msj8
RT @hmg_journal: Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function https://t.co/9jvC0a…
Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function https://t.co/9jvC0aXtQZ https://t.co/rUxdQ6VdlX
RT @hmg_journal: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 https://t.co/TTs…
RT @hmg_journal: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 https://t.co/TTs…
Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 https://t.co/TTsGiELEvj https://t.co/UHr8nFWksn
RT @hmg_journal: Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship infere…
RT @hmg_journal: Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship infere…
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data https://t.co/5kyLbahs9p https://t.co/cQrm7UkWoP
Astrocytes from Smith-Lemli-Opitz syndrome patients display disrupted lipid metabolism and mitochondrial function, impairing neuroprotection and synaptic integrity. by Kawatani K, Baker SK (...) Kanekiyo T et 7 al. in Hum Mol Genet https://t.co/lHxFTjUlWg #MedX #MedResearch
RT @hmg_journal: Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice https://t.co/BAPZ6666Gb https://t.co/CdloOgY…
Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice https://t.co/BAPZ6666Gb https://t.co/CdloOgYFOr
Novel genetic loci linked to orofacial cleft subtypes reveal subtype-specific variations and underscore the need for inclusive GWAS approaches. by Dack K, Ludwig KU (...) Lewis SJ et 12 al. in Hum Mol Genet https://t.co/H4IBmgqfP4 #MedX #MedResearch
Lower levels of the MRE11-ATLD1 variant cause severe disease symptoms, while higher expression mitigates phenotype severity in mouse models. by DeFoer MB, Mostafa AM (...) Sekiguchi JM et 6 al. in Hum Mol Genet https://t.co/g1jLmA69aq #MedX #MedResearch
Genome-wide study uncovers 13 genetic loci linked to gout, highlighting gender differences and promising pathways for tailored interventions. by Tao Y, Cai T (...) Meng W et 6 al. in Hum Mol Genet https://t.co/JH1psvTxm9 #MedX #MedResearch
#Apaperaday from Budapest ASO themed for the #OTS2026 meeting. Yesterday I was gifted N1C logo origami paper. Today's pick is from Human Molecular Genetics on RNAseq to asses off target effects of ASOs by Kuijper and Van Roon-Mom and Buijsen et al. See also poster 237 at OTS! Doi 10.1093/hmg/ddaf153
RT @hmg_journal: Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in L…
RT @hmg_journal: Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in L…
Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts https://t.co/g0O0mT7Jev https://t.co/4AGwTXpF2Y
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice https://t.co/91b3G1xhhi https://t.co/gnwdepGLbx
ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation https://t.co/FQJ5dMgEWB https://t.co/wmS1tLm7vf
Diagnostic, prognostic, and immune-related roles of G3BP1 in pan-cancer https://t.co/ZtySOYxD4R https://t.co/AAMMcwGe4q
RT @hmg_journal: Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family https://t.co/NWG2uB9pEc htt…
Tracing neuropathological signatures: TARDBP and C9orf72 double mutations in a Sicilian family https://t.co/NWG2uB9pEc https://t.co/pp5KoSQv5y
RT @hmg_journal: WDR45 deficiency shortens axon length in dopaminergic neurons from patient-derived iPSCs https://t.co/qNkIlSeYRL https://t…
WDR45 deficiency shortens axon length in dopaminergic neurons from patient-derived iPSCs https://t.co/qNkIlSeYRL https://t.co/QpKH9CODXG
RT @hmg_journal: SPECIAL: 2025 REVIEWS ISSUE 1 https://t.co/jiXRPsHzL4 COVER: STING: a multifaced player in cellular homeostasis https://t…
RT @hmg_journal: SPECIAL: 2025 REVIEWS ISSUE 1 https://t.co/jiXRPsHzL4 COVER: STING: a multifaced player in cellular homeostasis https://t…
SPECIAL: 2025 REVIEWS ISSUE 1 https://t.co/jiXRPsHzL4 COVER: STING: a multifaced player in cellular homeostasis https://t.co/2l1waDBYOe https://t.co/oy7CmT3Lxv
RT @STITCHESMed: N-Lactoyl amino acids, driven by metabolic states, reveal links to inflammation and energy metabolism, suggesting novel bi…
A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment https://t.co/Hwjtm8TN5v https://t.co/vT9rKTlPQy
RT @hmg_journal: Huntingtin reduction results in altered nuclear structure and heterochromatic instability https://t.co/diiusk5nVX https://…
Huntingtin reduction results in altered nuclear structure and heterochromatic instability https://t.co/diiusk5nVX https://t.co/l0irtjEfjq
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1 https://t.co/XSJkaRE8Ko https://t.co/3ILqB8SySQ
N-Lactoyl amino acids, driven by metabolic states, reveal links to inflammation and energy metabolism, suggesting novel biomarkers for disease. by Elashi AA, Razzaq A (...) Elrayess MA et 5 al. in Hum Mol Genet https://t.co/d6XsdpQSeK #MedX #MedResearch
RT @hmg_journal: Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population…
Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population validation https://t.co/Hxn0US0LSJ https://t.co/Ion4WV6ayD
Novel compound heterozygous variants in NBAS underlying fever-dependent infantile liver failure syndrome type 2: potential implications of protein thermostability https://t.co/FtY79dw0jI https://t.co/XoCyTsueQ8
Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1 https://t.co/Gm1Lar9DbA https://t.co/xmMK9711tL
NEW ISSUE: 1 October 2025 https://t.co/hLSN2WM4Z1 COVER: Silencing of SOD1 sensitises ATRX-deficient cells to camptothecin treatment through increased activity of the alternative lengthening of telomeres pathway https://t.co/tEuJjbhiJz https://t.co/gbUnoUWr5A
Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type https://t.co/SnkJyUXiWf
Functional analysis of novel MMP21 gene compound heterozygous mutations in a prenatal case with heterotaxy https://t.co/xRZjXCjS3w https://t.co/BADiAQ8TMH
A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly https://t.co/7Ce5OaHmmI https://t.co/L7lgUWgJUp
RT @hmg_journal: Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate https://…
Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate https://t.co/6lX2a5LptL
#apaperaday Today's pick is from Human Molecular Genetics by Banks et al on the role desmin and costamers play in the integrity of skeletal muscles that lack dystrophin in type 2 fibers of mice. Not my core expertise so I hope I can do it justice doi: 10.1093/hmg/ddaf127.
RT @STITCHESMed: G3BP1 emerges as a pivotal biomarker for cancer diagnostics and prognosis, linked to poor outcomes and immune evasion. by…
Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions https://t.co/RWVjLqCDjD
G3BP1 emerges as a pivotal biomarker for cancer diagnostics and prognosis, linked to poor outcomes and immune evasion. by Lu S, Du T (...) Liu W et 4 al. in Hum Mol Genet https://t.co/k2dqTkSzYX #MedX #MedResearch
Novel neurofilament light (Nefl) E397K mouse models of Charcot–Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy https://t.co/GFvstUWfcl
RT @mumumouse2: Three papers used the same data, two papers were corrected and the third has an Expression of Concern (due to the data). Do…
A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing https://t.co/563B2iAFQf
@mAVtmuP34HML9dm @BioProtocol
@zsljt @BioProtocol
@Kiiiiim14 @BioProtocol
@B6iYZird5Ag2uXk @BioProtocol
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
Novel PNLDC1 mutations underlie nonobstructive azoospermia in humans and mice https://t.co/BRpI8EsFhd
@AshleyW62906095 @BioProtocol
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
@Elizabe87759412 @BioProtocol
Statistically significant DGE estimates for the three traits - height, BMI and BMD - across ages six, nine and thirteen. Nurture has limited influence on anthropometric traits during formative years https://t.co/72xrjdUPI5
Source: https://t.co/A0OPLeQwki
@KristaL02941621 @BioProtocol
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
RT @hmg_journal: Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
Genetic nurture: estimating the direct genetic effects of pediatric anthropometric traits https://t.co/mwbS07iP7g
RT @hmg_journal: NEW ISSUE: 15 SEPT 2025 https://t.co/KFfaMsOiPY Cover: A discrete region of the D4Z4 is sufficient to initiate epigenetic…
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect https://t.co/wNSrX5YPTw https://t.co/gvVR5iCZga
RT @mumumouse2: Three papers used the same data, two papers were corrected and the third has an Expression of Concern (due to the data). Do…
Three papers used the same data, two papers were corrected and the third has an Expression of Concern (due to the data). Does this make sense? The PI was mentioned in the book "Doctored" by Charles Piller. https://t.co/fw83WYOJF4 ➡️ The correction (10.1093/hmg/ddad040) to the https://t.co/4B9PDLPcP8
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice https://t.co/oNieMo9LTs
@ivvannnnnnn1
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism https://t.co/AHSq1qVm15
The RNA-binding protein DDX39B promotes colorectal adenocarcinoma progression by stabilizing DCLK1 https://t.co/7mxo8lp3zK https://t.co/GKZb8JToE1
@Mm33890934
Familial ALS/FTD-associated RNA-binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitro https://t.co/gclYcTk527 https://t.co/MjAhU2f260
NEW ISSUE: 15 SEPT 2025 https://t.co/KFfaMsOiPY Cover: A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing https://t.co/dMVfWNRdBk https://t.co/kkBnmOOXuh
@vanpaiafran @BioProtocol Fascinating combo, but we're working blind here. Schwartz et al. (DOI: 10.1093/hmg/ddt327) showed mtDNA deletions vanish when muscle satellite cells activate—but that's muscle, not brain. No studies yet combine mitochondrial editing + NAD+ for neural rejuvenation. The logic is
@mishan41kkk @BioProtocol Rapamycin's mTOR inhibition drives mitophagy to clear mutant mtDNA and restore ATP (doi:10.1093/hmg/ddt450), but urolithin A + NAD booster synergy across tissues remains untested. The mechanistic logic is compelling - urolithin triggers mitophagy while NAD+ fuels the clearance
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy https://t.co/WUmbMgH6yE https://t.co/ibl5berM2P
Direct single cell-type gene expression analysis in peripheral blood: novel ratio-based gene expression biomarkers using 2 novel monocyte reference genes (PSAP and CTSS) for detection of bacterial infection https://t.co/a2onPViKSq https://t.co/ax4arNteRR
RT @hmg_journal: Single cell analysis of pan-cancer tumor microenvironment in immunotherapy https://t.co/kgNoOVYKET https://t.co/GTPWDZD3kL
Single cell analysis of pan-cancer tumor microenvironment in immunotherapy https://t.co/kgNoOVYKET https://t.co/GTPWDZD3kL
RT @hmg_journal: Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci assoc…
Alpha-synuclein modulates the positioning of endolysosomes in melanoma cells https://t.co/XfH0LZbxoN https://t.co/gcJVEGBeAH
@davidasinclair Satellite cell depletion is the smoking gun. Baris et al. showed transient mtDNA damage decimates the satellite pool and neuromuscular junctions (DOI: 10.1093/hmg/ddt251). Iron pumping helps, but we need to repair the root damage - restore satellite cells, fix mitochondria. Why
@NemeremIgweze Deferiprone plus Lactobacillus plantarum 299v could reverse 60+ age-linked CpG methylation sites (DOI: 10.1093/hmg/ddt531). Iron chelation blocks ferroptosis while probiotics modulate epigenetic marks. Decentralized validation: dried blood spots biweekly, measure methylation
RT @hmg_journal: Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci assoc…
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels https://t.co/UMdprbvDMQ https://t.co/6KIJW8UXoK
RT @hmg_journal: Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5 https…
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5 https://t.co/SwoWFGqoeR https://t.co/jipwuDKtDQ
RT @hmg_journal: The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/HV4XIYSq38 https://t.co/05L4…
The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/HV4XIYSq38 https://t.co/05L4wIXBWL
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function https://t.co/VEbzn1yrfr https://t.co/p4bijDdvoN
Unraveling the genetics of gulf war illness in diverse participants enrolled in the million veteran program https://t.co/s92gCL6IaU https://t.co/H4rwVqncF4
@MJk9656 @BioProtocol We've identified over 60 age-associated CpG sites that track biological aging precisely (DOI: 10.1093/hmg/ddt531) - perfect biomarkers for testing rejuvenation! Yet nobody's run the experiment: skin biopsies before/after rapamycin+senolytics+exercise, then profile those exact
@MJk9656 @BioProtocol Absolutely brilliant strategy! Wilson et al. (DOI: 10.1093/hmg/ddu352) shows mitochondrial poly(A) polymerase controls transcript stability - the epigenetic-mitochondrial crosstalk we need. Every third cycle OSK pulses could reset nuclear-mitochondrial coordination while D+Q/NAD+
@ianmorris_ @BioProtocol Brilliant intuition! The Ghezzi data (DOI: 10.1093/hmg/ddt067) shows supercomplex integrity drives bioenergetics more than individual complexes. SIRT3-targeted acetylation could restore these supramolecular interactions that OSK alone misses. NAD+ is a sledgehammer; SIRT3+OSK is
RT @hmg_journal: Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and…
@pvt_eth
@0xArsy
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants https://t.co/nd6I2EYB6w https://t.co/JGcGUoLxx5
#ACGHTeInforma Un estudio realizado en Boyacá, exploró cómo mejorar el diagnóstico genético de enfermedades raras en comunidades donde la consanguinidad y los efectos fundadores juegan un papel clave https://t.co/T4UO29PQgd https://t.co/3kRZTRE2Qz
Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder https://t.co/iQh4sPOcOz https://t.co/LSPW9Lm50y
Diverse effects of coexpression of human SOD1 variants on motor neuron disease https://t.co/ZedSCiS627 https://t.co/eCRBWfgetL
Recent insights into the role of innate immunity in lupus https://t.co/5fxOsDQLGn https://t.co/ih6LsSOPw9
RT @hmg_journal: Macrophages: sentinels, warriors, and healers https://t.co/JDGDi5RW3G https://t.co/R9VBKBYpnB
RT @FranMartinezGr: Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function #RareDisease #Ge…
Macrophages: sentinels, warriors, and healers https://t.co/JDGDi5RW3G https://t.co/R9VBKBYpnB
RT @IBCSinica:
RT @22Q11_Ireland: These findings highlight that genetic testing ascertaining the presence of neurodevelopmental CNVs might be helpful in e…
RT @FranMartinezGr: Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function #RareDisease #Ge…
RT @DM1research: Japanese study: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1…
Second-hit CDH1 gene mechanisms in hereditary diffuse gastric and lobular breast cancer syndrome: frequency and impact on tumorigenesis https://t.co/3SuCdJQG7r https://t.co/GjuTcxqR8q
Old vs. new local ancestry inference in HCHS/SOL: a comparative study https://t.co/sBE2DFgPKS https://t.co/hc5qJhqgqE
Japanese study: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 https://t.co/v9eW998RCg
Alpha-synuclein modulates the positioning of endolysosomes in melanoma cells https://t.co/CBY6zMLvNu https://t.co/gxVdy9D1Ry
RT @Matt_Muscle_Guy: New @hmg_journal paper: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystr…
New @hmg_journal paper: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1. https://t.co/dudJ4DhiWD
Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function #RareDisease #Genetics #morbidgene https://t.co/cDB8GRqaB1 https://t.co/E08C6iJvOi
Direct single cell-type gene expression analysis in peripheral blood: novel ratio-based gene expression biomarkers using 2 novel monocyte reference genes (PSAP and CTSS) for detection of bacterial infection https://t.co/pxLcpzMIVi https://t.co/vPH7I5IDqo
@jimmy_soot_ @GGGG246081 @Ke_Arturo @Oriana_RSA Coloured people have much higher "Khoisan" ancestry (20–40%) compared to Bantu groups (5–15%). The "Khoisan" genetic contribution is highest in groups like the Nama (up to 80–90%), but much lower in Bantu groups. Journal: Human Molecular Genetics Link: DOI: 10.1093/hmg/ddq176
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy https://t.co/yudJWDaY60 https://t.co/VVKbEEOLVC
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect https://t.co/K1xHgkD2j6 https://t.co/KXXOjQfMjJ
The RNA-binding protein DDX39B promotes colorectal adenocarcinoma progression by stabilizing DCLK1 https://t.co/eVSZYoZdzl https://t.co/WzpQwluUyO
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism https://t.co/OO1MLKTzVX https://t.co/hMaO5d90Z1
https://t.co/lHrf0FFc9l
H3Africa: a model for implementing biobank-based genomic research in resource-constrained settings https://t.co/PPiIqf0jYU https://t.co/Ph07g2ovV1
A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing https://t.co/dMVfWNRdBk https://t.co/WZ2MtI7B34
RT @hmg_journal: A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing https://t.co/563B2iA80H https://t.co/sb8pkUtw…
Novel neurofilament light (Nefl) E397K mouse models of Charcot–Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy https://t.co/zzdytihqAq https://t.co/DbxSqwOaSx
RT @boris_ctcf:
Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions https://t.co/XPpgtWUnwN https://t.co/F1ds8MeRbU
Interesting new @hmg_journal paper: Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles. https://t.co/0kvEkmQnk0
RT @hmg_journal: Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate https://…
Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate https://t.co/jpxD9bCcQT https://t.co/fOXTLQW8Zi
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism https://t.co/AHSq1qVTQD https://t.co/xnaRc1BaDA
H3Africa: a model for implementing biobank-based genomic research in resource-constrained settings https://t.co/ByfxCtf6KK https://t.co/yJbMUmoOt0
A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing https://t.co/563B2iA80H https://t.co/sb8pkUtwwU
RT @Kamal_M_Khanna: Macrophages: sentinels, warriors, and healers. Our latest review on macrophages @EricBartnicki and Eduardo! @lab_khanna…
RT @HSS_PIC: Dr. Lauren Robinson reported on innate immunity in lupus, emphasizing toll-like receptor signaling, NLRP3 inflammasome activa…
Dr. Lauren Robinson reported on innate immunity in lupus, emphasizing toll-like receptor signaling, NLRP3 inflammasome activation, myeloid cell dysregulation, and microbiome-immune interactions. #HSSRheum https://t.co/YoliTCTopo
Novel neurofilament light (Nefl) E397K mouse models of Charcot–Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy https://t.co/GFvstUWfcl https://t.co/rZGVRAsFnD
Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis https://t.co/d9qL5pisml https://t.co/Yy43nVsW4M
RT @hmg_journal: Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci https://t.co/C68Tb…
Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci https://t.co/C68Tbo0uUc https://t.co/VPjLHx9Sfm
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function https://t.co/O9e3QTndUN https://t.co/Sg4GHSt0gA
RT @hmg_journal: A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defec…
RT @hmg_journal: Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis https://t.co/kT6XyRTsvV…
RT @boris_ctcf:
Synaptic defects in adult drosophila motor neurons in a model of amyotrophic lateral sclerosis https://t.co/vRzwBGcpQA https://t.co/7n3YzjPIGz
The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/ZcJLY9okac https://t.co/l7wY0HFqXX
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5 https://t.co/W1XnnCFVEI https://t.co/BDB6NtsFBr
RT @hmg_journal: Latest Issue: https://t.co/4HGtZuJUfG Cover article: https://t.co/iCxzx0Paiy https://t.co/qRMPRSXlmm
Latest Issue: https://t.co/4HGtZuJUfG Cover article: https://t.co/iCxzx0Paiy https://t.co/qRMPRSXlmm
New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model https://t.co/khb81vEZO1 https://t.co/tAHVwfplqS
RT @hmg_journal: Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome https://t.co/4iIDc0TrPP https://t.co/71oqhpXbnv
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome https://t.co/4iIDc0TrPP https://t.co/71oqhpXbnv
RT @IBCSinica:
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression https://t.co/AokOmrsesI https://t.co/OuZxxpD5e6
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis https://t.co/5WoAmvMqvI https://t.co/SocKZPqxnc
RT @hmg_journal: 1 July 2025 Issue: https://t.co/9phlntaVKZ Cover: Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific…
Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific Nup160 knockout mice https://t.co/MpymB0BJ9K https://t.co/gSGnln20Av
Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling https://t.co/wJPtzN2Jcl https://t.co/8efh8Q7UAh
RT @hmg_journal: Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Hunting…
RT @hmg_journal: Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Hunting…
Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease https://t.co/mugnWOk5ln https://t.co/go2pYobix2
Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profiling https://t.co/vVQLnAYPn1 https://t.co/lGrd1L94Gq
@UCSDHealth @UCSDJacobs LabScribbles/ ALS, (DOI typo) “ Genetic pharmacological PARP inhibition reduces axonal degeneration in C. elegans models of ALS” https://t.co/lttgeEIOZE Enjoy
1 July 2025 Issue: https://t.co/9phlntaVKZ Cover: Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific Nup160 knockout mice https://t.co/MpymB0Bbkc https://t.co/I9EtNJsgnV
RT @hmg_journal: The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/HV4XIYSXSG https://t.co/IFcf…
RT @hmg_journal: The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/HV4XIYSXSG https://t.co/IFcf…
Driving Global Health equity and precision medicine through African genomic data https://t.co/O9hMLcqzZE https://t.co/zdZsvNyL7M
https://t.co/FXFerRmrms #AntimicrobialResistance #Infection
Inborn errors of canonical autophagy in neurodegenerative diseases https://t.co/J4Jz7Qzw74 https://t.co/oy1jyQOncp
RT @hmg_journal: Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis https://t.co/B9O4gqn2tV https://t.co/iZ3UDRC…
Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis https://t.co/B9O4gqn2tV https://t.co/iZ3UDRCzi3
The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease https://t.co/HV4XIYSXSG https://t.co/IFcfklJi8H
RT @hmg_journal: Diverse landscape of genomic research within the Estonian Biobank https://t.co/vNc0BnJjGi https://t.co/0j6sTCbU6F
Diverse landscape of genomic research within the Estonian Biobank https://t.co/vNc0BnJjGi https://t.co/0j6sTCbU6F
This analysis of #DNAme follows on from @nicl2.bsky.social’s detailed study of the effects of Setd1a haploinsufficiency on the transcriptome and synaptosome in the frontal cortex
Our latest review on macrophages Macrophages: sentinels, warriors, and healers url:https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddaf087/8158008 academic.oup.com/hmg/advance-...
Cell Biology @munromit.bs(Deoxynucleosides/ RRM2B/ Supplementation) https://doi.org/10.1093/hmg/ddaf047 #DeSantisLab (Dynein/ Centrosome/ Endosome trafficking) https://doi.org/10.1083/jcb.202406153 (9/36)
Latest paper by Munro et al. using Zantiks systems to aid research on deoxynucleoside & mitochondrial DNA depletion syndromes (MDDS). They show, for the first time in vivo, that deoxynucleoside supplementation can mitigate effects of RRM2B mutations. #BehaviourSimply doi.org/10.1093/hmg/...
Mí bisabuelo era Ranquel, no hay nada más lindo que descubrir que no sos tan de afuera...igual dejo un estudio de la UNC de Córdoba para el que quiera leer y descubrir que la mayoría somos marrones de ascendencia doi.org/10.1093/hmg/...
ACTN-3 deficiency (common in ~20% of people) weakens muscles, especially during forceful contractions. If you have the R577x mutation (deficiency) you may have weakened muscles and lack contraction ability but it comes with a trade off of increased slow fiber ACTN-2 doi.org/10.1093/hmg/...
New targets for hip OA!
New study reevaluates the splice-altering variant in #TECTA linked to hearing loss DFNA8/12 in a Chinese family via RNA analysis, revealing crucial insights for genetic screening. #Genetics PMID:38676628, Hum Mol Genet 2024, @hmg_journal doi.org/10.1093/hmg/...
TTC7A missense mutations impact intestinal disease severity. This study analyzed 11 variants, revealing diverse phenotypic effects. #Genetics #Research #Science PMID:39675053, Hum Mol Genet 2024, @hmg_journal doi.org/10.1093/hmg/...
Study reveals biallelic missense #C2CD3 variants causing partial ciliogenesis & SHH signaling disruption in a nephronophthisis case. Unique insights into cis-trans hypomorphism Ⓒ
Dysregulated alternative splicing is a key transcriptomic feature in spinocerebellar ataxias (SCAs) with CAG repeat expansions, observed presymptomatically in SCAs 1, 3, & 7 fibroblast models. PMID:39589088, Hum Mol Genet 2024, doi.org/10.1093/hmg/...
Exploring SCZ's genetics: GWAS reveals key RNA editing, splicing, and gene expression links. Unveiling functional roles in disease traits enriches understanding. PMID:39656777, Hum Mol Genet 2024, doi.org/10.1093/hmg/...
12/ One possibility is that different prion glycosylation levels occur in the thalamus. B/c glycosylation affects prion intracellular trafficking and PrPc-to-PrPsc conversion, this could alter the behavior of thalamic prions. doi.org/10.1093/hmg/... doi.org/10.1034/j.16...
RT @CarpeRibosomam: New work with ChIP-seq and behavioral roles for Williams Syndrome locus genes Gtf2i and Gtf2ird1 is out today! Great wo…
RT @CarpeRibosomam: New work with ChIP-seq and behavioral roles for Williams Syndrome locus genes Gtf2i and Gtf2ird1 is out today! Great wo…
New work with ChIP-seq and behavioral roles for Williams Syndrome locus genes Gtf2i and Gtf2ird1 is out today! Great work by lab alum Nathan Kopp, Kayla Nygaard, and the team! https://t.co/Dti7KHUv23
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica published as: https://t.co/O1NqWPgib4 @oxfordjournals #biorxiv
Functional crosstalk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddz250/5599812
De Novo Mutations Implicate Novel Genes With Burden Of Rare Variants In Systemic Lupus Erythematosus published as: https://t.co/LIRI6QsiFU @oxfordjournals #biorxiv
RT @UoDLifeSciences: Critical role of the SPAK protein kinase CCT domain in controlling blood pressure http://t.co/F7wNg3JA5f @oxfordjourna…
The value of DNA methylation profiling in characterizing preeclampsia and intrauterine growth restriction published as: https://t.co/GJN0AvSVsZ @oxfordjournals #biorxiv
RT @biorxiv_pubd: Consortium genome-wide meta-analysis for childhood dental caries traits published as: https://t.co/90xKChmeY2 @oxfordjour…
Consortium genome-wide meta-analysis for childhood dental caries traits published as: https://t.co/90xKChmeY2 @oxfordjournals #biorxiv
Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddz101/5492384#.XOS5FbxrLKU.twitter
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype published as: https://t.co/oMMAlsvrIy @oxfordjournals #biorxiv
Tripolar mitosis drives the association between maternal genotypes of PLK4 and aneuploidy in human preimplantation embryos published as: https://t.co/zGDWtXpRP9 @oxfordjournals #biorxiv
A mutation-led search for novel functional domains in MeCP2 published as: https://t.co/omaxMlTcbN @oxfordjournals #biorxiv
Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects published as: https://t.co/HoxZtgFHQS @oxfordjournals #biorxiv
Big data and single cell transcriptomics: implications for ontological representation published as: https://t.co/iO7hot3AhE @oxfordjournals #biorxiv
African genetic diversity provides novel insights into evolutionary history and local adaptations cc @srama23 https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddy161/4993963
New review: The potential impact of #nanopore sequencing on human genetics https://academic.oup.com/hmg/article/doi/10.1093/hmg/ddx287/4036434/The-potential-impact-of-nanopore-sequencing-on
‘Genomic landscape of African populations in health and disease’ https://academic.oup.com/hmg/article/doi/10.1093/hmg/ddx253/3916726/The-genomic-landscape-of-African-populations-in
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