Daniel H Cohn Selected Research

Spondylocarpotarsal synostosis

4/2022	Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.
1/2017	A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
3/2016	TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.
4/2004	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

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Daniel H Cohn Research Topics

Disease

7	Osteogenesis Imperfecta (Lobstein Disease) 01/2022 - 03/2007
4	Spondylocarpotarsal synostosis 04/2022 - 04/2004
4	Metatropic dwarfism 12/2016 - 03/2009
2	Intervertebral Disc Degeneration 04/2022 - 03/2016
2	Dysostoses 12/2016 - 01/2016
2	Short Rib-Polydactyly Syndrome 01/2016 - 04/2009
2	Ciliopathies 01/2016 - 01/2016
2	Brachyolmia 06/2014 - 03/2009
2	Fibrochondrogenesis 02/2012 - 11/2010
2	Larsen Syndrome 02/2007 - 04/2004
2	Atelosteogenesis Type 3 07/2006 - 04/2004
2	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 07/2006 - 05/2003
1	Developmental Bone Diseases (Bone Dysplasia) 12/2020
1	sponastrime type Spondyloepimetaphyseal dysplasia 01/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	Strudwick syndrome 01/2019
1	type 1 Stickler syndrome 12/2018
1	Desbuquois syndrome 09/2017
1	Peripheral Nervous System Diseases (PNS Diseases) 12/2016
1	Nager type Acrofacial dysostosis 01/2016
1	Schneckenbecken dysplasia 10/2015
1	Channelopathies 06/2014
1	Congenital Abnormalities (Deformity) 06/2014
1	Joint Diseases (Joint Disease) 06/2014
1	Opsismodysplasia 01/2013
1	Acrodysostosis 04/2012
1	Joint Instability (Joint Laxity) 12/2011
1	type 6 Osteogenesis imperfecta 12/2011
1	Segmental glomerulosclerosis 05/2010
1	Multiple Abnormalities 05/2010
1	Brittle Bone Disorder 04/2010
1	Kozlowski type Spondylometaphyseal dysplasia 03/2009
1	Aggrecan Type Spondyloepimetaphyseal Dysplasia 01/2009
1	Neutropenia 04/2007
1	type 1 Atelosteogenesis 07/2006
1	Brachydactyly 02/2005
1	Diastrophic dysplasia 02/2005
1	Micrognathism 03/2003
1	Cleft Palate (Palate, Cleft) 03/2003
1	Pierre Robin Syndrome (Syndrome, Pierre Robin) 03/2003
1	Grebe type Chondrodysplasia 07/2002

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 12/2020 - 07/2006
4	FilaminsIBA 04/2022 - 07/2006
4	CalciumIBA 09/2017 - 03/2009
3	Calcium Channels (Calcium Channel)IBA 12/2016 - 03/2009
3	Messenger RNA (mRNA)IBA 12/2016 - 06/2014
3	Ion Channels (Ion Channel)IBA 06/2014 - 03/2009
3	CollagenIBA 05/2010 - 03/2003
3	Collagen Type I (Type I Collagen)IBA 05/2010 - 03/2007
2	Nonsense Codon (Nonsense Mutation)IBA 04/2022 - 05/2013
2	alpha2 Subunit Collagen Type IIBA 01/2022 - 12/2008
2	Procollagen Type IIBA 01/2022 - 04/2010
2	Collagen Type IXIBA 12/2018 - 02/2005
2	PolyphosphatesIBA 10/2015 - 01/2013
2	Phosphoric Monoester Hydrolases (Phosphatases)IBA 10/2015 - 01/2013
2	Inositol (Myoinositol)IBA 10/2015 - 01/2013
2	Collagen Type XIIBA 02/2012 - 11/2010
2	Codon (Codons)IBA 04/2004 - 03/2003
1	mouse FLNB proteinIBA 04/2022
1	4-phenylbutylamineIBA 01/2022
1	Laminin (Merosin)IBA 12/2020
1	CamptothecinIBA 01/2019
1	2- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA 01/2019
1	nucleotidaseIBA 09/2017
1	Myosins (Myosin)IBA 01/2017
1	Transient Receptor Potential ChannelsIBA 12/2016
1	DNA (Deoxyribonucleic Acid)IBA 12/2016
1	U2 Small Nuclear RibonucleoproteinIBA 01/2016
1	Phosphotransferases (Kinase)IBA 01/2016
1	FollistatinIBA 06/2014
1	Phosphates (Orthophosphate)IBA 01/2013
1	Hormones (Hormone)IBA 04/2012
1	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 04/2012
1	EnzymesIBA 03/2012
1	KinesinsIBA 12/2011
1	pigment epithelium-derived factorIBA 12/2011
1	SerpinsIBA 12/2011
1	Protease Inhibitors (Protease Inhibitor)IBA 12/2011
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/2010
1	cyclophilin BIBA 05/2010
1	Mixed Function Oxygenases (Monooxygenases)IBA 05/2010
1	Carrier Proteins (Binding Protein)IBA 04/2009
1	C-Type Lectins (C-Type Lectin)IBA 01/2009
1	Aggrecans (Aggrecan)IBA 01/2009
1	Amylases FDA Link 04/2007
1	IntegrinsIBA 03/2007
1	Proteoglycans (Proteoglycan)IBA 03/2007
1	Matrilin ProteinsIBA 02/2005
1	Cartilage Oligomeric Matrix ProteinIBA 02/2005
1	Complementary DNA (cDNA)IBA 05/2003
1	Growth Differentiation Factor 5IBA 07/2002