Joan C Marini Selected Research

2-oxoglutarate 3-dioxygenase proline

1/2020	Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
1/2016	Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
8/2014	Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
5/2012	A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
1/2010	Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
3/2007	Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

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Joan C Marini Research Topics

Disease

55	Osteogenesis Imperfecta (Lobstein Disease) 01/2022 - 02/2003
8	Developmental Bone Diseases (Bone Dysplasia) 01/2022 - 01/2010
6	Osteoporosis 01/2020 - 06/2005
3	Type V Osteogenesis Imperfecta 01/2022 - 02/2015
3	Inborn Genetic Diseases (Disease, Hereditary) 03/2012 - 06/2007
3	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 04/2007 - 05/2005
2	type 6 Osteogenesis imperfecta 01/2022 - 06/2014
2	Melorheostosis 01/2020 - 08/2019
2	Pain (Aches) 08/2019 - 06/2005
2	Bone Diseases (Bone Disease) 01/2019 - 03/2007
2	Bone Fractures (Bone Fracture) 02/2015 - 01/2013
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2020
1	Contracture 01/2020
1	Sclerosteosis 12/2019
1	Type IX Osteogenesis Imperfecta 01/2017
1	type VIII Osteogenesis imperfecta 01/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2015
1	Alzheimer Disease (Alzheimer's Disease) 11/2015
1	Dehydration (Water Stress) 12/2012
1	Pulmonary Hypertension 08/2012
1	Pneumonia (Pneumonitis) 08/2012
1	Hypertrophy 08/2012
1	Hypoxia (Hypoxemia) 08/2012
1	Metabolic Bone Diseases (Osteopenia) 08/2010
1	Connective Tissue Diseases (Connective Tissue Disease) 07/2008
1	Autosomal Dominant Type VII Ehlers-Danlos Syndrome 03/2006

Drug/Important Bio-Agent (IBA)

33	Collagen Type I (Type I Collagen)IBA 01/2022 - 03/2003
29	CollagenIBA 01/2022 - 03/2003
19	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2006
9	Diphosphonates (Bisphosphonates)IBA 01/2018 - 06/2005
7	alpha2 Subunit Collagen Type IIBA 01/2020 - 01/2010
6	2-oxoglutarate 3-dioxygenase prolineIBA 01/2020 - 03/2007
5	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2021 - 03/2003
4	InterferonsIBA 01/2020 - 08/2014
4	Procollagen Type IIBA 01/2019 - 02/2003
4	cyclophilin BIBA 04/2016 - 02/2010
3	pigment epithelium-derived factorIBA 01/2022 - 06/2014
2	MineralsIBA 09/2017 - 01/2016
2	Pamidronate (Aredia)FDA LinkGeneric 09/2017 - 06/2005
2	CalciumIBA 01/2017 - 01/2016
2	CationsIBA 01/2016 - 08/2014
2	HSP47 Heat-Shock Proteins (Heat Shock Protein 47)IBA 08/2014 - 06/2011
2	IntegrinsIBA 07/2008 - 03/2007
1	4-phenylbutylamineIBA 05/2018
1	Lysine (L-Lysine)FDA Link 04/2016
1	NucleotidesIBA 01/2016
1	Codon (Codons)IBA 01/2016
1	PrionsIBA 11/2015
1	Flavin-Adenine Dinucleotide (FAD)IBA 11/2015
1	Prion ProteinsIBA 11/2015
1	Proline (L-Proline)FDA Link 11/2015
1	Presenilin-1IBA 11/2015
1	Cyclophilins (Cyclophilin)IBA 11/2015
1	Bone Morphogenetic Protein 1IBA 08/2014
1	Sp7 Transcription FactorIBA 08/2014
1	Biological ProductsIBA 12/2012
1	N-propionylprocainamideIBA 08/2012
1	Human Growth Hormone (Saizen)FDA LinkGeneric 06/2011
1	OsteocalcinIBA 08/2010
1	Peptides (Polypeptides)IBA 08/2010
1	Peptide Hormones (Polypeptide Hormones)IBA 08/2010
1	Carboxypeptidase H (Carboxypeptidase E)IBA 08/2010
1	Mixed Function Oxygenases (Monooxygenases)IBA 02/2010
1	Alendronate (Alendronate Sodium)FDA LinkGeneric 05/2009
1	Cysteine (L-Cysteine)FDA Link 04/2007
1	Amino Acids FDA Link 04/2007
1	Proteoglycans (Proteoglycan)IBA 03/2007
1	Bone Density Conservation AgentsIBA 06/2005
1	Growth Hormone (Somatotropin)IBA 02/2003

Therapy/Procedure

9	Therapeutics 01/2020 - 02/2003
1	Palliative Care (Palliative Therapy) 08/2019
1	Operative Surgical Procedures 06/2011
1	Transplantation 07/2009