Ontology highlight
ABSTRACT:
SUBMITTER: Racacho L
PROVIDER: S-EPMC4795202 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Racacho Lemuel L Byrnes Ashley M AM MacDonald Heather H Dranse Helen J HJ Nikkel Sarah M SM Allanson Judith J Rosser Elisabeth E Underhill T Michael TM Bulman Dennis E DE
European journal of human genetics : EJHG 20150311 12
Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. Human and mouse genetic perturbations in the BMP-SMAD signaling pathway have been associated with many brachymesophalangies, including BDA1, as causative mutations in IHH and GDF5 have been previously identified. GDF5 interacts directly as the preferred ligand for the BMP type-1 receptor BMPR1B and is important for both chondrogenesis and digit formation. W ...[more]