Variations in U4 and U6 snRNA genes lead to retinitis pigmentosa.
🧬 153 RP cases found with RNU4-2 and RNU6 variants in 67 families
🧬 Variants located in U4/U6 duplex's vital junction
🧬 ~1.4% of undiagnosed RP cases explained by these variants
🧬 Potential impact on tri-snRNP splicing factors
#Genomics #Spliceosome #RetinitisPigmentosa #NoncodingRNA #Pub2Post
"We call CHD2 a ‘Goldilocks Gene,’ because both too little is bad and too much is also bad. There's no reason at all to think that this is an isolated case, but more likely that these long non-coding RNAs and non-coding regions are implicated more broadly across human disorders,” said corresponding study author Gemma Carvill, an assistant professor at Northwestern University.
#genetics #research #science #biology #NonCodingRNA #autism #epilepsy
https://www.labroots.com/trending/genetics-and-genomics/28190/errors-non-coding-rna-cause-disease
Expanding and Enriching the LncRNA Gene–Disease Landscape Using the GeneCaRNA Database. https://doi.org/10.3390/biomedicines12061305 #NonCodingRna #LongNonCodingRna #HumanNoncodingRna #Ncrna #Lncrna
As part of a FlyBase and GO consortium project focused on ncRNAs, we have created GO terms to annotate primary GO:0140990 and secondary GO:0140965 piRNA processing, piRNA-mediated retrotransposon silencing by heterochromatin formation GO:0141006 and piRNA-mediated retrotransposon silencing by mRNA destabilization GO:0141009. We welcome any feedback to improve the coverage and accuracy of these annotations.
Interesting benefit of including #noncodingRNA. #NetworkMedicine #NetworkScience
Two new Collaborative Research Centers for which we were an applicant university have been approved by the German Research Foundation. Also the funding for our project "#NonCodingRNA in the #cardiovascularsystem" has been extended: http://go.tum.de/585307
📷A. Heddergott
@CellReports
by Llorca Lab (cniostopcancer ), The Moreno-Herrero Lab (CNB_CSIC), Fortes Lab (CIMA Universidad de Navarra)
Very nicely explained here ⬇️
https://cnio.es/en/news/one-of-the-causes-of-aggressive-liver-cancer-discovered-a-molecular-staple-that-helps-repair-broken-dna/
#cnio #cniostopcancer
#scicomm #cancer #genetics #sketchnote #yourscienceinasketch #hepatocellularcarcinoma #noncodingRNA #dnadamage #DNArepair #biophysics #magnetictweezers #comunicaciencia
