Article
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.
Human mutation - 1 Jul 2010
Wyatt Alexander W, Osborne Robert J, Stewart Helen, Ragge Nicola K
Abstract excerpt
Bone morphogenetic protein (BMP) signaling regulates a range of cellular processes and plays an important role in the specification and patterning of the early embryo. However, due to the functional redundancy of BMP ligands and receptors in tissues where they are coexpressed, relatively little is known about the role of individual BMP ligands in human disease. Here we report heterozygous variations in BMP7,...
Topics
- Amino Acid Sequence
- Base Sequence
- Bone Morphogenetic Protein 7
- Bone and Bones
- Brain
- Congenital Abnormalities
- DNA Mutational Analysis
- Ear
- Ear Diseases
- Eye Abnormalities
- Genetic Predisposition to Disease
- In Situ Hybridization
- Molecular Sequence Data
- Mutation
- Palate
- Sequence Homology, Amino Acid