‼️ PUBLISHED ONLINE @NatureGenet
📰 Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
🧑🏿🤝🧑🏻 @reversade and team
👇🏿
<https://t.co/FZGHEpGnde>
@jbwallingford A thought: maybe homo sapiens has supplanted traditional animal models (frog, chicken, mouse) inevitably squeezing out superb Dev Bio to peripheral journals. The advent of deep sequencing has introduced a paradigm shift, placing humans at the center of attention.
Check out our latest preprint! We describe the first human condition from the loss-of-function of the proto-oncogene RAF, that results in a neonatal lethal progeroid syndrome (1/3)
https://t.co/DBcY7eGcjg
@sethmasters@ReversadeLab@CassHarapas@KimSamirah It will be known as Hatipoglu Syndrome.
Thank you all for this fruitful collaboration and compelling disease modeling in mice.
Next DPP8 Deficiency syndrome.....
Heureuse d’annoncer la parution de notre dernier article décrivant l’identification du gène responsable d’une nouvelle maladie rare, le syndrome “MADaM” (Dysplasie Acromandibulaire associée à MTX2”) dans Nature Communications.
https://t.co/GKDKmHoiRH
@ReversadeLab@NatureComms A unifying model: what if progeroid mitochondrapathies such as mutant PYCR1, P5CS , Leigh syndrome was in part explained by impaired mitochondrial import of nuclear-encoded proteins by MTX1/MTX2 ?