Associated Papers
Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.
Malinauskas T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family.
Leonidou A et al.
World Journal of Orthopedics, 2016
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE et al.
European Journal of Medical Genetics, 2012
The effect of two point mutations in GDF-5 on ectopic bone formation in a beta-tricalciumphosphate scaffold.
Kasten P et al.
Biomaterials, 2010
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.
Guo S et al.
Cellular & Molecular Biology Letters, 2010
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P et al.
Plos Genetics, 2009
Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.
Kotzsch A et al.
The Embo Journal, 2009
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
Douzgou S et al.
American Journal of Medical Genetics. Part A, 2008
Brachydactyly type A2 associated with a defect in proGDF5 processing.
Plöger F et al.
Human Molecular Genetics, 2008
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
Yang W et al.
Journal of Human Genetics, 2008
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
Masuya H et al.
Human Molecular Genetics, 2007
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
Wang X et al.
American Journal of Medical Genetics. Part A, 2006
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K et al.
American Journal of Human Genetics, 2006
Monomeric and dimeric GDF-5 show equal type I receptor binding and oligomerization capability and have the same biological activity.
Sieber C et al.
Biological Chemistry, 2006
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
Seemann P et al.
The Journal of Clinical Investigation, 2005