Ichilov Genetics
@IchilovG
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The Genetics Institute and Genomics Center; the Translational Genetics and Genomics Research Lab, Tel Aviv Sourasky Medical Center
Ichilov, Israel
Joined March 2022
היום התחיל קורס להכשרת variant analysts בהובלת המכון הגנטי שלנו. בהרצאה הראשונה, פרופ' חגית בריס פלדמן, מנהלת המכון, נתנה סקירה מרתקת של ההתפתחויות בעולם הגנטי בשנים האחרונות. בהצלחה לכולם!!!
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition #RareDisease #Genetics #morbidgene
https://t.co/gpK57ZqZkW
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As James Watson, co - discoverer of the DNA double helix structure, has passed today (RIP), I want to address an important issue: most modern visualizations of the DNA double helix are actually WRONG. The original Watson-Crick "bands wrapped around a rod" picture depiction is
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Deficiency of SCAMP5 causes Parkinson’s disease due to loss of dopamine neurons #RareDisease #Genetics #morbidgene
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New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! https://t.co/LqG7SlFkcc
nature.com
Nature Communications - Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation...
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CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly #RareDisease #Genetics #morbidgene
https://t.co/Jkgp3vwV9X
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Complex de novo structural variants are an underestimated cause of rare disorders #RareDisease #Genetics
https://t.co/3BTTOksi5H
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Nascent proteins may be phosphorylated during translation, and the phosphosite buried in the protein’s inner core. Such buried phosphosites are found in ~ 1/3 of the phosphorylated human proteins. Buried phosphosites can influence protein abundance (👇), providing another
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Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene
https://t.co/3FvuZfWZ9j
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NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis #RareDisease #Genetics #morbigene
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Has anyone's cell culture ever get possessed by these round things? Any idea what they might be? It seems as though something is moving inside, but we're not sure... #cellbiology #cellculture #whatisthis #help
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EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling #RareDisease #Genetics #morbidgene
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So apparently, the "inactive" X chromosome in females actually has an important job in regulating gene expression by its "active" partner. Very interesting!
The ‘‘inactive’’ X chromosome (Xi) is active. Xi regulates gene expression from the active X. 1/n
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Thrilled to finally see BoltzGen, our new state-of-the-art all-atom binder design model, coming out fully open-source after a very extensive experimental validation with many top academic and industry labs! 🧬 The diversity of the experiments is unprecedented, spanning binder
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Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes #RareDisease #Genetics #morbidgene
https://t.co/RYnRKqEfIR
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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models #RareDisease #Genetics #morbidgene
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Cool mechanism: C. elegans telomerase RNA hitchhikes on introns of germline–up-regulated genes
science.org
Telomerase is a ribonucleoprotein complex that elongates telomeric DNA, ensuring germline immortality. In this study, we identified the Caenorhabditis elegans telomerase RNA component 1 (terc-1), as...
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function #RareDisease #Genetics #morbidgene
https://t.co/4QMmiDs5GT
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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder #RareDisease #Genetics #morbidgene
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מחקרים בגנטיקה יכולים לגעת בכל תחום רפואי. היום ד"ר חופית גדות הציגה את המחקר שלנו בכנס הישראלי לעור ומין.
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