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James P Simmer Selected Research

Amelogenesis Imperfecta

4/2021Translational Attenuation by an Intron Retention in the 5' UTR of ENAM Causes Amelogenesis Imperfecta.
1/2021Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in OdaphC41*/C41* mice.
1/2019AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
1/2019Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
11/2016Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
10/2016Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
7/2015Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation.
2/2015Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
1/2014Enamelin is critical for ameloblast integrity and enamel ultrastructure formation.
7/2009Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice.
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James P Simmer Research Topics

Disease

16Amelogenesis Imperfecta
04/2021 - 05/2002
7Dentinogenesis Imperfecta
12/2022 - 05/2007
5Dental Pulp Calcification (Denticle)
12/2022 - 01/2011
3Dentin Dysplasia
01/2016 - 05/2007
2Osteogenesis Imperfecta (Lobstein Disease)
12/2022 - 01/2012
2Dental Enamel Hypoplasia
01/2019 - 12/2002
1Type III Amelogenesis Imperfecta
01/2019
1Infections
01/2019
1Hyperphosphatemia
12/2015
1Familial Hyperphosphatemic Tumoral Calcinosis
12/2015
1Root Resorption
01/2013
1Hypercementosis
01/2013
1Anodontia (Hypodontia)
01/2012
1Oral Manifestations
01/2012
1Unerupted Tooth
04/2008
1Mucopolysaccharidosis IV (Morquio Syndrome)
01/2002

Drug/Important Bio-Agent (IBA)

7dentin sialophosphoproteinIBA
12/2022 - 12/2008
6Proteins (Proteins, Gene)FDA Link
01/2019 - 04/2008
3alpha2 Subunit Collagen Type IIBA
12/2022 - 05/2007
3tuftelin (enamelin)IBA
01/2014 - 05/2002
2Amino AcidsFDA Link
10/2021 - 01/2019
2MineralsIBA
01/2013 - 04/2008
1DNA (Deoxyribonucleic Acid)IBA
12/2022
1NucleotidesIBA
10/2021
15' Untranslated Regions (5' UTR)IBA
04/2021
1PhosphoproteinsIBA
01/2021
1RELTIBA
01/2019
1Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
01/2019
1azobisisoamylonitrileIBA
01/2019
1Acid PhosphataseIBA
11/2016
1G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
10/2016
1calcium phosphateIBA
12/2015
1Polypeptide N-acetylgalactosaminyltransferaseIBA
12/2015
1OligosaccharidesIBA
12/2015
1Phosphates (Orthophosphate)IBA
12/2015
1Uridine Diphosphate (UDP)IBA
12/2015
1potassium-dependent sodium-calcium exchangerIBA
02/2015
1CarbohydratesIBA
02/2011
1Proteoglycans (Proteoglycan)IBA
02/2011
1Peptide Hydrolases (Proteases)FDA Link
01/2011
1kallikrein 4IBA
07/2009
1RNA Splice SitesIBA
12/2008
1Matrix Metalloproteinase 20IBA
12/2002
1AmelogeninIBA
12/2002
1Nonsense Codon (Nonsense Mutation)IBA
05/2002
1AcetylgalactosamineIBA
01/2002
1Chondroitin Sulfates (Chondroitin Sulfate)IBA
01/2002
1HydrolasesIBA
01/2002
1Keratan SulfateIBA
01/2002