🔔 Wednesday reading recommendations & Latest online!-Vol. 16 No.1 📌 A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations ✒ By Jude M. Abadie 🖇 https://lnkd.in/gsfydtZS 🔑 Keywords: mitochondrial disorders;maternal inheritance mitochondrial genome 😎Welcome to your reading! #MitochondrialDisorders #MaternalInheritance #MitochondrialGenome #Genetics #Heredity
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🔔 Wednesday reading recommendations & Latest online!-Vol. 16 No.1 📌 A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations ✒ By Jude M. Abadie 🖇 https://lnkd.in/gsfydtZS 🔑 Keywords: mitochondrial disorders;maternal inheritance mitochondrial genome 😎Welcome to your reading! #MitochondrialDisorders #MaternalInheritance #MitochondrialGenome #Genetics #Heredity
A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations
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Decoding Neuromuscular Disorders at Their Genetic Core! Neuromuscular disorders often arise from inherited genetic factors, impacting the nerves that control muscle function. MedGenome offers CAP-accredited, NGS- and MLPA-based genetic testing for a wide range of conditions, including Congenital Myopathies, Muscular Dystrophy, Motor Neuron Diseases, and more. Complemented by expert pre- and post-test genetic counseling, our comprehensive services provide precise insights to empower informed, confident decisions in managing neuromuscular health. #MedGenome #Genetics #NeuromuscularDisorders
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World Heart Day: Understanding the Genetics of Cardiovascular Conditions Genetics plays a significant role in your heart's destiny. Your family history, specific gene variants, and conditions like hypertension, hypertrophic cardiomyopathy, cardiac arrhythmias, and sudden cardiac arrest can all impact your cardiovascular health. Learn more: https://lnkd.in/d5qAFvsZ #worldheartday #Mapmygenome #Knowyourself #Cardiomap #Heartdisease #genetics #hypertension #cardiacarrest #genes #dna #athomednatest #hargharDNA
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Consolidating the Role of Mutated ATP2B2in Neurodevelopmental and Cerebellar Pathologies #RareDisease #Genetics A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals. Here, they provided additional evidence for a causal role of missense and C-terminally located LoF variants in ATP2B2 in neurodevelopmental syndromes with movement abnormalities and cerebellar involvement. They described six additional ATP2B2-mutated individuals from five unrelated families with heterogenous developmental, cognitive, epileptic, and motor phenotype presentations. https://lnkd.in/dKYYxydn
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Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed https://bit.ly/4cQyrCY #smallmolecules
Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed
pubmed.ncbi.nlm.nih.gov
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Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed https://bit.ly/4cQyrCY #smallmolecules
Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed
pubmed.ncbi.nlm.nih.gov
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Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed https://bit.ly/4cQyrCY #smallmolecules
Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy - PubMed
pubmed.ncbi.nlm.nih.gov
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Our latest blog explores how the data provided by #MITOMAP can significantly aid researchers, clinicians, and genetic counselors in analyzing mitochondrial variants, improving diagnosis, and advancing personalized medicine. Read more here: https://bit.ly/3AR5loP #VariantAnalysis #NGS #PrecisionMedicine
Don't Miss MITOMAP for Mitochondrial Variant Analysis in VarSeq
https://www.goldenhelix.com/blog
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Aggregation of the RNA-binding protein TDP-43 is central to TDP-proteinopathies such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Scientists discovered that TDP-43 co-aggregates with the dual-function protein RGNEF in ALS patients. An N-terminal fragment of RGNEF (NF242) interacts directly with the RNA recognition motifs of TDP-43, competing with RNA. The IPT/TIG domain of NF242 is crucial for this interaction. In a fruit fly, the ALS model overexpressed TDP-43, and the genetic expression of NF242 suppressed neuropathology, increased lifespan, eliminated motor defects, and prevented neurodegeneration. Intracerebroventricular injections of AAV9/NF242 in a severe TDP-43 murine model (rNLS8) improved lifespan, motor function, and reduced neuroinflammation markers. Their findings highlight a novel therapeutic approach for TDP-43 proteinopathies using a protein fragment that competes with RNA sequestration. Visit us at https://treventis.com/ #TDP43 #proteinopathies #ALS #FTD #RNA https://lnkd.in/g_SveEQN
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MITOMAP is an indispensable tool for mitochondrial variant analysis, offering a wealth of data on mtDNA variants, and you can find this resource curated for your use within VarSeq! #bioinformatics #support #VarSeq #genomics #genetics #enablingpersonalizedmedicine #annotations #analysis #variantanalysis
Our latest blog explores how the data provided by #MITOMAP can significantly aid researchers, clinicians, and genetic counselors in analyzing mitochondrial variants, improving diagnosis, and advancing personalized medicine. Read more here: https://bit.ly/3AR5loP #VariantAnalysis #NGS #PrecisionMedicine
Don't Miss MITOMAP for Mitochondrial Variant Analysis in VarSeq
https://www.goldenhelix.com/blog
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