Jorge H Martin Selected Research

Achondroplasia

1/2018

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

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Jorge H Martin Research Topics

Disease

2	Spondylocarpotarsal synostosis 04/2022 - 01/2017
2	Facioscapulohumeral Muscular Dystrophy 04/2010 - 05/2003
1	Intervertebral Disc Degeneration 04/2022
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2022
1	Developmental Bone Diseases (Bone Dysplasia) 12/2020
1	Thanatophoric Dysplasia (Dwarfism, Thanatophoric) 01/2018
1	Ciliopathies 01/2018
1	Achondroplasia 01/2018
1	Short Rib-Polydactyly Syndrome 01/2016
1	Muscular Dystrophies (Muscular Dystrophy) 11/2003

Drug/Important Bio-Agent (IBA)

1	mouse FLNB proteinIBA 04/2022
1	Nonsense Codon (Nonsense Mutation)IBA 04/2022
1	FilaminsIBA 04/2022
1	alpha2 Subunit Collagen Type IIBA 01/2022
1	4-phenylbutylamineIBA 01/2022
1	Procollagen Type IIBA 01/2022
1	Laminin (Merosin)IBA 12/2020
1	Proteins (Proteins, Gene)FDA Link 12/2020
1	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 01/2018
1	Myosins (Myosin)IBA 01/2017
1	Phosphotransferases (Kinase)IBA 01/2016
1	ChromatinIBA 04/2010
1	OligonucleotidesIBA 11/2003
1	LumicanIBA 05/2003
1	ElastinIBA 05/2003
1	ParaquatIBA 05/2003
1	DecorinIBA 05/2003
1	Cyclin-Dependent Kinase Inhibitor p21IBA 05/2003