Steven Mumm Selected Research

Hyperostosis corticalis deformans juvenilis

1/2020	Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
4/2016	Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
6/2013	Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.
6/2007	Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.
7/2002	Osteoprotegerin deficiency and juvenile Paget's disease.

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Steven Mumm Research Topics

Disease

19	Hypophosphatasia 01/2020 - 02/2002
10	Rickets (Rachitis) 01/2020 - 04/2003
9	Osteoporosis 01/2020 - 02/2005
9	Osteomalacia 01/2020 - 11/2006
5	Hyperostosis corticalis deformans juvenilis 01/2020 - 07/2002
5	Pain (Aches) 01/2020 - 08/2009
5	Metabolic Bone Diseases (Osteopenia) 01/2020 - 08/2007
5	Osteopetrosis 11/2018 - 07/2003
5	Bone Diseases (Bone Disease) 06/2015 - 09/2008
5	Infantile Hypophosphatasia 08/2007 - 02/2002
4	Hypercalcemia (Milk Alkali Syndrome) 11/2018 - 06/2007
4	Adult Hypophosphatasia 08/2016 - 04/2007
3	Osteosclerosis 01/2020 - 01/2016
3	Hyperphosphatemia 01/2020 - 04/2007
3	Arterial calcification of infancy 01/2020 - 02/2013
3	Congenital Abnormalities (Deformity) 01/2020 - 09/2008
3	Tooth Loss 01/2020 - 04/2014
3	Neoplasms (Cancer) 04/2014 - 02/2005
3	Femoral Fractures (Femoral Fracture) 05/2012 - 11/2006
3	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 03/2008 - 04/2004
2	Hepatitis C 01/2021 - 01/2016
2	Camurati-Engelmann Syndrome (Progressive Diaphyseal Dysplasia) 07/2020 - 05/2011
2	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 01/2020 - 01/2020
2	Hyperostosis 01/2020 - 05/2007
2	Enthesopathy 01/2020 - 01/2019
2	Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome) 01/2020 - 01/2019
2	Contracture 01/2020 - 02/2013
2	Periarthritis 01/2019 - 04/2014
2	Nephrocalcinosis 11/2018 - 06/2007
2	Craniosynostoses (Craniosynostosis) 01/2017 - 06/2015
2	Wounds and Injuries (Trauma) 08/2016 - 03/2010
2	Joint Diseases (Joint Disease) 06/2015 - 04/2014
2	hereditary expansile Polyostotic osteolytic dysplasia 11/2014 - 04/2014
2	Osteitis Deformans (Paget's Disease of Bone) 11/2014 - 04/2004
2	Bone Resorption 02/2013 - 02/2005
2	Disease Progression 09/2008 - 06/2007
2	Muscular Diseases (Myopathy) 03/2008 - 04/2004
2	Frontotemporal Dementia (Semantic Dementia) 03/2008 - 04/2004
1	Pica (Geophagia) 01/2021
1	Secondary Hyperparathyroidism 01/2021
1	Musculoskeletal Pain 01/2021
1	Bone Fractures (Bone Fracture) 01/2021
1	Hypocalcemia 01/2021
1	Developmental Bone Diseases (Bone Dysplasia) 07/2020
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2020
1	Failure to Thrive 01/2020
1	Vitamin D Deficiency 01/2020
1	Chronic Renal Insufficiency 01/2020
1	Vascular Calcification 01/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019

Drug/Important Bio-Agent (IBA)

25	Alkaline PhosphataseIBA 01/2020 - 02/2002
17	IsoenzymesIBA 01/2020 - 02/2002
16	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2020 - 06/2006
6	diphosphoric acid (pyrophosphoric acid)IBA 01/2020 - 06/2007
5	CalciumIBA 01/2020 - 12/2013
4	Alendronate (Alendronate Sodium)FDA LinkGeneric 01/2020 - 05/2007
4	Phosphates (Orthophosphate)IBA 01/2020 - 01/2016
4	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2002
4	PyridoxalIBA 01/2020 - 11/2006
4	MineralsIBA 01/2020 - 12/2013
4	Vitamin D FDA LinkGeneric 01/2020 - 05/2011
4	Durapatite (Hydroxylapatite)IBA 01/2019 - 08/2009
4	OsteoprotegerinIBA 04/2016 - 07/2002
4	Diphosphonates (Bisphosphonates)IBA 02/2013 - 07/2003
3	Biomarkers (Surrogate Marker)IBA 11/2018 - 04/2007
3	DNA (Deoxyribonucleic Acid)IBA 08/2017 - 02/2002
3	Teriparatide (Parathar)FDA Link 08/2016 - 04/2007
3	EnzymesIBA 05/2012 - 02/2005
2	Transforming Growth Factor beta (TGF-beta)IBA 07/2020 - 05/2011
2	Fibroblast Growth Factor-23IBA 01/2020 - 12/2005
2	Parathyroid Hormone (Parathormone)IBA 01/2020 - 08/2016
2	Protein Isoforms (Isoforms)IBA 01/2020 - 02/2013
2	alpha2 Subunit Collagen Type IIBA 01/2020 - 06/2011
2	Tetracycline (Achromycin)FDA LinkGeneric 01/2017 - 01/2016
2	phosphorylethanolamine (phosphoethanolamine)IBA 08/2016 - 06/2007
2	Pamidronate (Aredia)FDA LinkGeneric 12/2014 - 11/2014
2	Protein Sorting Signals (Signal Peptide)IBA 11/2014 - 04/2014
2	OsteocalcinIBA 02/2013 - 02/2005
2	RANK LigandIBA 05/2011 - 07/2002
2	Estrogens (Estrogen)FDA Link 03/2009 - 02/2005
2	Hormones (Hormone)IBA 03/2009 - 02/2005
2	CollagenIBA 02/2007 - 02/2005
2	Valosin Containing ProteinIBA 02/2006 - 04/2004
1	TeaIBA 01/2021
1	ToothpastesIBA 01/2021
1	Prostate-Specific Antigen (Semenogelase)IBA 01/2021
1	fluorapatite (fluoroapatite)IBA 01/2021
1	Anabolic AgentsIBA 01/2021
1	Opiate AlkaloidsIBA 01/2021
1	Cholecalciferol (Vitamin D3)FDA Link 01/2020
1	hydroxide ionIBA 01/2020
1	WD repeat containing planar cell polarity effectorIBA 01/2020
1	Sp7 Transcription FactorIBA 01/2020
1	Phosphorus (Red Phosphorus)IBA 01/2020
1	Thymidine Monophosphate (TMP)IBA 01/2020
1	25-Hydroxyvitamin D3 1-alpha-Hydroxylase (25 Hydroxyvitamin D3 1 alpha Hydroxylase)IBA 01/2020
1	Fibroblast Growth Factor 7 FDA Link 01/2020
1	OsteopontinIBA 01/2020
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2019

Therapy/Procedure

9	Therapeutics 01/2020 - 11/2006