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Alan J Mighell Selected Research

Amelogenesis Imperfecta

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

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Alan J Mighell Research Topics

Disease

9Amelogenesis Imperfecta
01/2020 - 09/2012
2Neoplasms (Cancer)
03/2006 - 10/2003
1Ovarian Neoplasms (Ovarian Cancer)
11/2020
1Necrosis
01/2020
1Infections
01/2020
1Sensorineural Hearing Loss
10/2015
1Deafness enamel hypoplasia nail defects
10/2015
1Malformed Nails (Pachyonychia)
10/2015
1Jalili syndrome
02/2009
1Osteosarcoma (Osteogenic Sarcoma)
03/2006
1Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
10/2003
1Microcephaly
07/2002

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2020 - 07/2002
2G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
11/2020 - 10/2016
1Protons (Proton)IBA
11/2020
1Type C PhospholipasesIBA
11/2020
1RELTIBA
01/2020
1Acid PhosphataseIBA
01/2017
1tuftelin (enamelin)IBA
01/2017
1Retinaldehyde (Retinal)IBA
10/2015
1potassium-dependent sodium-calcium exchangerIBA
02/2013
1Durapatite (Hydroxylapatite)IBA
09/2012
1Peptides (Polypeptides)IBA
09/2012
1MetalsIBA
02/2009
1Dynactin ComplexIBA
03/2006
1T-Cell Antigen Receptors (T-Cell Receptor)IBA
10/2003