Associated Papers
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU et al.
Clinical Genetics, 2024
A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni S et al.
Bone, 2023
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
Turgut GT et al.
Molecular Syndromology, 2023
TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.
Wu M et al.
Bone Research, 2016
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E et al.
Plos Genetics, 2013
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
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Schwaerzer GK et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
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
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Faiyaz-Ul-Haque M et al.
Journal of Bone and Mineral Metabolism, 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
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Kjaer KW et al.
Journal of Medical Genetics, 2006
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
Szczaluba K et al.
American Journal of Medical Genetics. Part A, 2005
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
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
Schwabe GC et al.
American Journal of Medical Genetics. Part A, 2004
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2002