Associated Papers
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.
Drage Berentsen R et al.
Molecular Syndromology, 2019
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
Mutant GDF5 enhances ameloblast differentiation via accelerated BMP2-induced Smad1/5/8 phosphorylation.
Liu J et al.
Scientific Reports, 2016
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
TGF-β and BMP signaling in osteoblast differentiation and bone formation.
Chen G et al.
International Journal of Biological Sciences, 2012
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P et al.
Plos Genetics, 2009
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