Discover and read the best of Twitter Threads about #LDLR
Most recents (2)
1/19 Saturday Morning Class #19: Lp(a) and receptors
First principles: What is a receptor? One can think of it as a toll gate, you need a code to get into the cell, and the code is done by “facial" recognition software. If the toll does not recognize you, you stay out
First principles: What is a receptor? One can think of it as a toll gate, you need a code to get into the cell, and the code is done by “facial" recognition software. If the toll does not recognize you, you stay out
2/19 Why do we need receptors? For complex systems like mammals (as opposed to bacteria where most things they need can be done by one cell) eukaryotic cells have needs that have to be supplied by other cells- they need to let in the Amazon trucks with the goods.
3/19 LDL particles made in liver are a good example taken up by LDL receptors by rest of the body. Receptors in the immune system have other functions- they recognize things that are not “self” and remove them to prevent damage, i.e. SARS-Cov-2, bacteria....
@my_helix @uk_biobank @my_helix took a look at 1,317 @uk_biobank phenotypes w/ 50,000 exomes released last week. Going beyond #GWAS, used gene-based collapsing analysis. Thanks @bmneale Pheasant pipeline for clean phenotypes, @hailgenetics for the tooling.
@my_helix @uk_biobank @bmneale @hailgenetics Found some stuff that we expected, #LDLR for #cholesterol, #MC1R for red hair; but counts too small for other known conditions like HBOC/#BRCA2 @ATorkmani @RobertCGreen @atulbutte @gabecasis
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Some interesting findings: #GP1BB associated with mean platelet volume. #GP1BB variants have been implicated in bleeding and platelet disorders. 
