Article
A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling.
Journal of thrombosis and haemostasis : JTH - 1 Dec 2015
Brooks M B, Catalfamo J L, MacNguyen R, Tim D, Fancher S, McCardle J A
Abstract excerpt
BACKGROUND: TMEM16F is an ion channel and calcium-dependent lipid scramblase that mediates phosphatidylserine (PS) exposure on the plasma membrane. Two disparate disease phenotypes are associated with TMEM16F loss-of-function mutations: a rare bleeding disorder (Scott syndrome) and skeletal malformations due to aberrant bone mineralization in a TMEM16F knockout mouse. We therefore undertook comparative studies of...
Topics
- Animals
- Apoptosis
- Base Sequence
- Blood Coagulation Disorders
- Blood Platelets
- DNA Mutational Analysis
- Dog Diseases
- Dogs
- Flow Cytometry
- Genetic Predisposition to Disease
- Molecular Sequence Data
- Pedigree
- Phenotype
- Phosphatidylserines