James A Poulter Selected Research

Amelogenesis Imperfecta

1/2020	A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
1/2017	Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
1/2017	Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
1/2017	Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
10/2016	Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
10/2015	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
2/2013	Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
9/2012	Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

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James A Poulter Research Topics

Disease

8	Amelogenesis Imperfecta 01/2020 - 09/2012
2	Alzheimer Disease (Alzheimer's Disease) 01/2021 - 01/2020
2	Parkinson Disease (Parkinson's Disease) 01/2021 - 01/2020
2	Retinal Dystrophies 01/2017 - 01/2017
1	Pharyngitis (Sore Throat) 01/2022
1	Pelizaeus-Merzbacher Disease 01/2022
1	Oral Ulcer (Mouth Ulcer) 01/2022
1	VEXAS syndrome 01/2022
1	Breast Neoplasms (Breast Cancer) 11/2021
1	Neoplasms (Cancer) 11/2021
1	Huntington Disease (Huntington's Disease) 01/2021
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 01/2021
1	Oguchi disease 01/2021
1	congenital stationary Night blindness 01/2021
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Infections 01/2021
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Inflammation (Inflammations) 01/2020
1	Myocardial Infarction 01/2020
1	Ocular Albinism 03/2018
1	Cysts 01/2018
1	Atrophy 01/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2017
1	Malformed Nails (Pachyonychia) 10/2015
1	Sensorineural Hearing Loss 10/2015
1	Deafness enamel hypoplasia nail defects 10/2015
1	Albinism 12/2013
1	Wallerian Degeneration 09/2012
1	Ganglion Cysts (Ganglion) 02/2012
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 09/2011
1	Leber Congenital Amaurosis 09/2011
1	Cataract (Cataracts) 09/2011
1	Corneal Opacity 09/2011
1	Glaucoma 09/2011
1	Familial Exudative Vitreoretinopathies 12/2010

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2012
6	Retinaldehyde (Retinal)IBA 03/2018 - 12/2010
2	InflammasomesIBA 01/2021 - 01/2020
1	Ubiquitin-Activating Enzymes (Ubiquitin-Activating Enzyme)IBA 01/2022
1	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 01/2022
1	Codon (Codons)IBA 01/2022
1	Phosphodiesterase 4 InhibitorsIBA 01/2022
1	apremilastIBA 01/2022
1	NucleotidesIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	MicroRNAs (MicroRNA)IBA 11/2021
1	Messenger RNA (mRNA)IBA 11/2021
1	Estrogen ReceptorsIBA 11/2021
1	Epirubicin (Ellence)FDA LinkGeneric 11/2021
1	Cyclophosphamide (Cytoxan)FDA LinkGeneric 11/2021
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/2021
1	CytokinesIBA 01/2020
1	N-acetyltalosaminuronic acid (NAT)IBA 01/2020
1	Interleukin-18 (Interleukin 18)IBA 01/2020
1	tuftelin (enamelin)IBA 01/2017
1	Acid PhosphataseIBA 01/2017
1	SteroidsIBA 01/2017
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 10/2016
1	Melanins (Melanin)IBA 12/2013
1	Glutamine (L-Glutamine)FDA Link 12/2013
1	potassium-dependent sodium-calcium exchangerIBA 02/2013
1	Peptides (Polypeptides)IBA 09/2012
1	Durapatite (Hydroxylapatite)IBA 09/2012
1	Transcription Factors (Transcription Factor)IBA 02/2012
1	DNA (Deoxyribonucleic Acid)IBA 09/2011
1	PeroxidasinIBA 09/2011
1	5'- O- (9- phenylxanthen- 9- yl)- 2'- deoxynebularineIBA 09/2011

Therapy/Procedure

2	Therapeutics 11/2021 - 01/2021
1	Lasers (Laser) 11/2021
1	Drug Therapy (Chemotherapy) 11/2021