Judith A Goodship Selected Research

Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)

1/2012	Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.
12/2009	Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
11/2009	Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
8/2007	Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

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Judith A Goodship Research Topics

Disease

6	Atypical Hemolytic Uremic Syndrome 11/2013 - 07/2005
4	Congenital Heart Defects (Congenital Heart Defect) 01/2016 - 06/2012
4	Tetralogy of Fallot (Fallot Tetralogy) 01/2014 - 01/2009
4	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia) 01/2012 - 08/2007
3	Hemolytic-Uremic Syndrome 01/2008 - 09/2003
2	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2006 - 04/2003
1	Bicuspid Aortic Valve Disease 01/2017
1	Complement Factor H Deficiency 11/2013
1	Glomerulonephritis 11/2013
1	Chronic Kidney Failure (Chronic Renal Failure) 08/2013
1	Proteinuria 08/2013
1	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2013
1	Acrocephalopolysyndactyly Type II 11/2012
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 06/2012
1	Hypertrophy 01/2012
1	Renal Insufficiency (Renal Failure) 01/2010
1	Weyers acrofacial dysostosis 11/2009
1	Tooth Abnormalities 11/2009
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 06/2005
1	Perinatal Death 07/2004
1	Vesico-Ureteral Reflux (Vesicoureteral Reflux) 07/2004
1	Hydronephrosis 07/2004
1	Thrombotic Microangiopathies 10/2003
1	Situs Inversus 12/2002
1	Thrombotic Thrombocytopenic Purpura 07/2002
1	Solitary Kidney 04/2002

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2017 - 12/2002
6	Complement Factor H (Factor H)IBA 11/2013 - 09/2003
4	Complement System Proteins (Complement)IBA 01/2008 - 10/2003
2	Transcription Factors (Transcription Factor)IBA 01/2014 - 10/2010
2	Complement Factor I (C3b Inactivator)IBA 01/2008 - 07/2005
1	Biological ProductsIBA 01/2016
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 08/2013
1	dimemorfan (AT 17)IBA 08/2013
1	Nonsense Codon (Nonsense Mutation)IBA 01/2013
1	Epidermal Growth Factor (EGF)IBA 11/2012
1	Mitogen-Activated Protein KinasesIBA 06/2012
1	Parathyroid Hormone-Related ProteinIBA 01/2012
1	Amino Acids FDA Link 11/2009
1	LigandsIBA 11/2009
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2009
1	Complement C4b-Binding ProteinIBA 05/2008
1	Fibrinogen (Factor I)FDA Link 01/2008
1	chemotactic factor inactivatorIBA 01/2008
1	Retinal Pigments (Pigments, Visual)IBA 06/2005
1	Membrane Proteins (Integral Membrane Proteins)IBA 07/2004
1	UroplakinsIBA 07/2004
1	Membrane Cofactor ProteinIBA 10/2003
1	AntibodiesIBA 07/2002
1	Peptide Hydrolases (Proteases)FDA Link 07/2002
1	Metalloproteases (Metalloproteinases)IBA 07/2002
1	von Willebrand FactorIBA 07/2002
1	Hepatocyte Nuclear Factor 1-betaIBA 04/2002

Therapy/Procedure

1	Therapeutics 11/2013
1	Ligation 04/2012
1	Transplantation 01/2010