Alan J. Mighell

Burden of hereditary enamel disorders

Geneviève Dupont, Timothy Wright, Guilherme Henrique Souza Bomfim, Alan J. Mighell et autres

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ACP4 Variants in Hypoplastic Amelogenesis Imperfecta

Lu Liu, Cheuk Wang Au, Ummey Hany, Alice L. Rigby et autres

Amelogenesis imperfecta (AI) is a group of rare inherited conditions causing tooth enamel defects. Human acid phosphatase 4 (ACP4) is a transmembrane protein involved in maintaining appositional enamel growth. Variants in ACP4 cause recessive hypoplastic AI. Here we identify further families and …

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ACP4 Variants In Hypoplastic Amelogenesis Imperfecta

Lu Liu, Cheuk Wang Au, Ummey Hany, Alice L. Rigby et autres

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ACP4 Variants In Hypoplastic Amelogenesis Imperfecta supplementary data

Lu Liu, Cheuk Wang Au, Ummey Hany, Alice Rigby et autres

This deposit contains supplementary data for the publication "ACP4 Variants In Hypoplastic Amelogenesis Imperfecta". This includes all of the input files and scripts used to generate the protein models for the wild-type ACP4 protein and the various substitutions resulting from the genetic …

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A UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition

Sonali Lakhani, Joana Monteiro, Mona Agel, Alexandra Lyne et autres

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Burden of hereditary enamel disorders

Guilherme Henrique Souza Bomfim, Geneviève Dupont, Timothy J. Wright, Alan J. Mighell et autres

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Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci

Ummey Hany, Christopher Mark Watson, Lu Liu, Georgios Nikolopoulos et autres

Amelogenesis is the process of tooth enamel formation, and genetic variants disrupting it cause the Mendelian inherited disorder amelogenesis imperfecta (AI). AI patients have weak, discoloured or brittle enamel, caused by reduced enamel quantity or mineralisation. AI can occur in isolation or, …

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Authors’ response to the commentary by Kivela et al on Hany et al (2024)

Alan J. Mighell, Chris F. Inglehearn

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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Claire E. L. Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna K. Best et autres

Background Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Nine plexin genes have been identified in humans, but despite the apparent …

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Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience

Joana Monteiro, Richard C. Balmer, Fiona Lafferty, Alexandra Lyne et autres

BACKGROUND: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality …

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Ummey Hany, Christopher Mark Watson, Lu Liu, Claire E. L. Smith et autres

Background Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB …

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Review of 1.75 million referrals over 34 months identifies the disruptive impact of the SARS-CoV-2 pandemic on oral surgery care in England: a service evaluation

Richard Moore, Iain Pretty, Gail V. A. Douglas, Alan J. Mighell

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