Twitter Beğeni Hilesi

The Atlas of Variant Effects (AVE) Alliance is an international community of researchers, analysts, clinicians, patients and funders working with and alongside major genomics and genetics initiatives and consortia.. ℹ️varianteffect.org (1/3)

Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with ... biorxiv.org/cgi/content/sh… #biorxiv_genomic

High-throughput functional data can help solve Variants of Uncertain Significance. Learn how in this video "MaveDB: discovery and interpretation of high-throughput functional assay data" by Dr Alan Rubin #Problem #Solution #FunctionalGenomics tinyurl.com/AlanRubinMAVEDB

Today in @nature, we discover a new enzyme in mammalian taurine metabolism- and uncover a chemical connection between diet, genetics, and body weight. Congrats Wei Wei (魏伟) Sarafan ChEM-H Stanford Pathology Michael Fischbach Cholsoon Jang SvenssonLab Lingyin Li Lab nature.com/articles/s4158…

Stunning new discovery from Sarafan ChEM-H Institute Scholar Long Lab and coworkers, led by first author Wei Wei (魏伟)!

I'm super excited to share this recent preprint from Weston Elison and I 🎉🎉🎉 We characterize how variation in both phenotype and genotype impact gene regulation in pancreatic islets, and then use these findings to predict non-coding diabetes risk mechanisms!

Our review in Nat Metab discussing functional beta cell hierarchy and connectivity. We focus on experimental systems and analytical tools, providing links. Richard Benninger Luis Delgadillo Anne Gresch Centre de recherche du CHUM Metabolism, Digestion & Reproduction HIRN the(sugar)science Canadian Islet Research and Training Network nature.com/articles/s4225…

"Multiplexed assays of variant effect can characterise massive numbers of variants simultaneously, yielding variant effect maps that reveal the function of every possible single nucleotide change in a gene or regulatory element"? Learn more! tinyurl.com/FowlerEtAl

Today in Nature Communications we describe the role of SLC17A1/3 in urine Lac-Phe efflux. The surprisingly insight that unlocked this pathway? Lac-Phe mis-assignment to “1-carboxyethyl phenylalanine” Metabolon, Inc.. Congratulations Veronica Li Sarafan ChEM-H nature.com/articles/s4146…

Our paper describing variability in cell type-specific gene regulatory programs in the pancreas in physiology and relationship to diabetes risk using single cell multiome profiling multiome.isletgenomics.org Hannah Mummey Weston Elison biorxiv.org/content/10.110…

How lovely to be back in Medical Sciences for a EASD meeting Keble College, Oxford . With my own parking space too!! 🚙 Looking forward to 3 days of cross-cutting science on insulin resistance from “heads shoulders knees to toes”. Thanks so much for the invite Anna Krook 🧫🧬🧪

What a wonderful few days Keble College, Oxford for the 27th EASD - Oxford Symposium. A very special meeting format - focused topic, one PI brings one fellow and they split their talks with the PI giving a brief intro and the fellow delivering the main science. 🧬🧫🧪 🙌👏👍

📢New today! 📰Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits 🧑‍🤝‍🧑Karen Mohlke Michael Love & co cell.com/ajhg/abstract/…

Francis Lynn and team present a new INS2A-EGFP/+;IAPP2A-mScarlet/+ hESC line providing a useful tool for tracking populations of maturing glucose-responsive hESC-derived β cells in vitro #stemcells #islets #diabetes sciencedirect.com/science/articl…

Recently Curated #HIRN Resources Various HPAP tissues used in a study to show how CD4+ T cells from individuals with #T1D respond to a novel class of de-amidated peptides formed in pancreatic islets. PMID38387030. Click link in comments below for direct access to resources

Spread the word, the Innovative Medicines Accelerator ⁦Stanford Medicine⁩ ⁦Sarafan ChEM-H⁩ is searching for a Director of Computational Drug Discovery, please repost! Director of Computational Drug Discovery - Stanford University Careers careersearch.stanford.edu/jobs/director-…

Funding Opportunity with DiabDocs-K12 Mentored career development program from early career physician scientists engaged in research relevant to diabetes Due Jan 13, 2025 Learn more at: med.stanford.edu/pedsendo/physi…

Congratulations to all of this years Stanford Maternal & Child Health Research Inst. #DRIVE students - but especially to our very own Esmeralda Matis. Tamadher | تماضر you are a terrific mentor! Stanford Pediatrics Stanford Diabetes Research StanfordPedsEndo

Check out this months Diabetes Care, a research journal of the ADA 🌟 featuring the amazing artwork of Pamela Kirton! Diagnosed with type 1 diabetes at 14, Pamela’s "Pine Grosbeak" graces the cover. Discover her inspiring journey from fashion illustrator to celebrated artist. doi.org/10.2337/dci24-…

Last chance to register for the the 5th BAMM Bay Area Metabolism Meeting on September 19th, 2024!! This year our keynote speaker is Kivanc Birsoy from Rockefeller University Stanford Diabetes Research Stanford Pathology bayareametabolismmeeting.com Registration link: docs.google.com/forms/d/e/1FAI…