Zuzana Musilova’s Post

Genetic sequences inserted into a cell do not usually cause excess burden; but when they do, it is often for reasons we don’t fully understand... In this latest piece from the Asimov blog, Niko McCarty discusses the effect of commandeering cells for expressing our gene (or genes) of interest - and what we're doing at to minimize the burden on the cell. Visit our blog to read more! https://lnkd.in/eu2JYbrA

Have you see our new Direction of Effect assessments? 👀 Bioinformatician Juan María Roldán Romero walks you through this new feature of the Open Targets Platform Introduced in our Spring release, 8 data sources now highlight the functional consequence of the perturbation on the gene, and how this affects the manifestation of the trait This is a useful indication of how modulating a target could affect a disease 👇 Let us know what you think of these assessments in the comments! #targetidentification #drugdiscovery

Could THIS Rare Gene Be the Cause of Hypermobile EDS? The Norris Lab at the Medical University of South Carolina has identified rare genetic variants in the kallikrein gene family that may be linked to hypermobile Ehlers-Danlos Syndrome, a discovery that could lead to new diagnostic and treatment approaches. So what does this mean for those of us with hEDS? Great question! You can find the answer in my latest blog post. https://lnkd.in/gV49A6Q3 #RareGene #HypermobileEDS #NorrisLab #MedicalResearch @cortneygensemer

Collagen plays an important role in giving structure to and strengthening the skin. Mutations in the COL7A1 gene cause both dominant and recessive forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that forms subunits of type VII collagen. Without it, skin is fragile and blisters easily. Learn more about #DEB: https://krys.bio/ya6  #DEB

Familial hypercholesterolemia (FH) is a dominant hereditary metabolic disorder usually related to pathogenic variants in the LDLR, APOB or PCSK9 genes. This is a case study on an Italian patient with a personal and familial history of hypercholesterolemia, a carrier of a novel large-scale variant (exons 4_18 loss) in the LDLR gene: t.ly/nqGLw #RBCBioscience #Research #diagnostics #DNA #CNVs #NGS #gene #LDL #cholesterol

A new frontier for combatting aging and extending our lifespan? Sounds exciting! Read Flavie Prevost's article (https://lnkd.in/gpBMk6um) to learn about the possibility of solving aging with allotopic gene expression by fixing damages in mitochondrial DNA (mtDNA) 🧬 🧬

From MBoC Mapping Stress-Responsive Signaling Pathways Induced by Mitochondrial Proteostasis Perturbations Wiseman et al. employed gene sets that report on the activity of distinct stress-signaling pathways to monitor the activity of different stress pathways in published Perturb-seq datasets where cells were CRISPRi-depleted of individual mitochondrial proteins. https://lnkd.in/e2-XjvAK

Excited to share that our recent bioinformatics article was cited in a study on how L-cysteine boosts the expression of the CYP11A1 gene in Leydig cells. As we stated in our paper, this gene plays a key role in testosterone production. The research suggests that this effect might explain why L-cysteine supplementation can help improve testosterone levels in infertile men, which, as a result, leads to an improvement in their spermogram profile. #gene_expression #NGS #IPM #Institut_Pasteur_du_Maroc

Development of a gene isoform atlas across perinatal and pediatric tissues using PacBio Iso-Seq (this is pre-Kinnex/pre-Revio). Analyzed using isoseq3 + TALON. #bioinformatics https://lnkd.in/g5Myrur8

Nucleic acids are building blocks of #DNA or #RNA of any cellular organisms or #viruses. A mutation is a change in the nucleotide sequence of a gene, which may occur due to errors in DNA replication during cell division, #viralinfection, & exposure to mutagens.