Robuta

https://elifesciences.org/articles/08469v1 A genetic toolkit for tagging intronic MiMIC containing genes | eLife genetictoolkittaggingintronicmimic https://elifesciences.org/articles/05449/peer-reviews Peer review in A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity | eLife A cell-surface receptor called Gpr52 is able to lower the levels of the disease-causing protein mutant huntingtin and suppress its toxicity when knocked-down,... https://www.wikidata.org/wiki/Q52192434 Imprinted expression of the Igf2r gene depends on an intronic CpG island - Wikidata scientific article published in October 1997 https://www.ncbi.nlm.nih.gov/gene/101241892 NPTN-IT1 NPTN intronic transcript 1 [Homo sapiens (human)] - Gene - NCBI homo sapienshuman genenptnit1intronic https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1536000/full Frontiers | Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G T)... BackgroundCongenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we re... https://www.bas.ac.uk/data/our-data/publication/intronic-primers-reveal-unexpectedly-high-major-histocompatibility-complex-diversity-in-antarctic-fur-seals/ Intronic primers reveal unexpectedly high major histocompatibility complex diversity in Antarctic... The major histocompatibility complex (MHC) is a group of genes comprising one of the most important components of the vertebrate immune system. Consequently,... high majorintronicprimersrevealunexpectedly https://www.rti.org/publication/association-allele-intronic-single-nucleotide-polymorphism-colony-stimulating-factor-1-receptor-croh Association of the T allele of an intronic single nucleotide polymorphism in the colony stimulating... BACKGROUND: Polymorphisms in several genes (NOD2, MDR1, SLC22A4) have been associated with susceptibility to Crohn's disease. Identification of the remaining... https://intronic.ca/ Intronic Intronic specializes in cutting-edge robotic solutions, industrial automation, and seamless system integration to optimize business operations and drive... intronic https://pmc.ncbi.nlm.nih.gov/articles/PMC10998186/ A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and... Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant... https://elifesciences.org/articles/65161 Intronic enhancer region governs transcript-specific Bdnf expression in rodent neurons | eLife An evolutionarily conserved neuron-specific and stimulus-dependent enhancer region downstream of the Bdnf exon III regulates the expression of Bdnf transcripts... https://pmc.ncbi.nlm.nih.gov/articles/PMC12266137/ Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult... Adult polyglucosan body disease (APBD) is a rare, adult-onset neurodegenerative disorder caused by loss-of-function variants in the glycogen branching enzyme... antisense oligonucleotidessplicemodulatingtargeting https://elifesciences.org/articles/05449/figures Figures and data in A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity |... A cell-surface receptor called Gpr52 is able to lower the levels of the disease-causing protein mutant huntingtin and suppress its toxicity when knocked-down,... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.701076/full Frontiers | IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants... Prediction of the effect of a single nucleotide variant (SNV) in an intronic region on aberrant pre-mRNA splicing is challenging except for an SNV affecting ... of thefrontiersprediction https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.890147/full Frontiers | Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G A in... Proximal renal tubular acidosis with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4(SLC4A4... https://elifesciences.org/articles/08469v1/peer-reviews Peer review in A genetic toolkit for tagging intronic MiMIC containing genes | eLife