The Activation of the Fibrodysplasia Ossificans Progressiva-Inducing ALK2-R206H Mutant Depends on the Distinct Homo-Oligomerization Patterns of ACVR2B and …
SS Szilágyi, W Burdzinski, J Jatzlau, M Ehrlich… - Cells, 2024 - mdpi.com
Mutations in activin-like kinase 2 (ALK2), eg, ALK2-R206H, induce aberrant signaling to
SMAD1/5/8, leading to Fibrodysplasia Ossificans Progressiva (FOP). In spite of extensive …
SMAD1/5/8, leading to Fibrodysplasia Ossificans Progressiva (FOP). In spite of extensive …
The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a …
K Liu, J Fu, K Guo, M Maghsoudloo, J Cheng, J Fu - Genes, 2024 - mdpi.com
Hereditary hemorrhagic telangiectasia (HHT), also called Rendu–Osler syndrome, is a
group of rare genetic diseases characterized by autosomal dominance, multisystemic …
group of rare genetic diseases characterized by autosomal dominance, multisystemic …