RT @isletbiologylab
Armenteros et al. used Multi-Omics Factor Analysis to identify molecular signatures correlating with post-diagnosis decline in β-cell mass measured as fasting C-peptide.
#type1diabetes
https://www.medrxiv.org/content/10.1101/2023.03.22.23287261v1.full
RT @vizbi
Interested to join next week's @EMBO workshop on Visualizing Biological Data, hosted by @EMBLEvents?
The deadline for online registration is Tomorrow, March 21.
So, register now at https://vizbi.org/2023/Registration.
Virtual participation will be engaging and memorable because..
1/2
RT @LSAjournal
This study shows that de novo mutations from probands with intellectual disability are selectively enriched in distal regulatory elements of the fetal brain. @ReviewCommons
https://www.life-science-alliance.org/content/6/5/e202201843
The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory DNMs is still poorly understood. We sequenced 63 whole genomes from 21 ID probands and their unaffected parents. In addition, we analysed 30 previously sequenced genomes from exome-negative ID probands. We found that regulatory DNMs were selectively enriched in fetal brain-specific enhancers as compared with adult brain enhancers. DNM-containing enhancers were associated with genes that show preferential expression in the prefrontal cortex. Furthermore, we identified recurrently mutated enhancer clusters that regulate genes involved in nervous system development ( CSMD1 , OLFM1 , and POU3F3 ). Most of the DNMs from ID probands showed allele-specific enhancer activity when tested using luciferase assay. Using CRISPR-mediated mutation and editing of epigenomic marks, we show that DNMs at regulatory elements affect the expression of putative target genes. Our results, therefore, provide new evidence to indicate that DNMs in fetal brain-specific enhancers play an essential role in the aetiology of ID.
RT @JDRFUK
Exciting #research funding news! 🔬
The Type 1 Diabetes Grand Challenge is opening two new #funding calls into the root causes of #T1D or treatments to replace insulin-making beta cells in the race to find new treatments and cures for #Type1Diabetes.
More info in 🧵👇
“SAVE THE DATE: We are delighted to announce the date for the 9th meeting of the Study Group on Genetics of Diabetes is the 17-19 April 2024, and it will be held at the University of Exeter, UK. @athattersley, @flanagan_se, @timfrayling, @inesbarroso4: https://t.co/dpyhPTlYxW”
RT @mamartirenom
We are looking for a lab technician to continue expanding our capabilities in the wet lab.
Friends, please retweet! 🔄 #3DGenomics #4DNucleomics #GenomeStructure #jobopening
RT @mirimiam
The peer-reviewed reviewed version of our study of pancreatic #islet #microexons is out in @NatMetabolism ! ⛱️
https://www.nature.com/articles/s42255-022-00734-2
Congratulations to @jonas_mateu and everyone involved @CRGenomica! 😀 https://twitter.com/mirimiam/status/1511018474998484993
In this study, Juan-Mateu et al. discover microexons that modulate insulin secretion in the pancreas in response to glucose levels in beta cell lines and mouse islets. Human genetic variants modulating these islet microexons are associated with type 2 diabetes risk.