Alan J. Mighell
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View article: Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci Open
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 q…
View article: Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability Open
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 p…
View article: Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience
Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience Open
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 affec…
View article: Heterozygous <i>COL17A1</i> variants are a frequent cause of amelogenesis imperfecta
Heterozygous <i>COL17A1</i> variants are a frequent cause of amelogenesis imperfecta Open
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 amelogen…
View article: Review of 1.75 million referrals over 34-months identifies the disruptive impact of the SARS-CoV2 pandemic on oral surgery care in England - a service evaluation.
Review of 1.75 million referrals over 34-months identifies the disruptive impact of the SARS-CoV2 pandemic on oral surgery care in England - a service evaluation. Open
Aims: This study aimed to use the electronic Referral Management System (eRMS) oral surgery data across multiple sites in England to evaluate the service over a 34-month period in relation to:1. Pre and post pandemic referral rates in oral…
View article: Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with <i>MMP20</i>
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with <i>MMP20</i> Open
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known vari…
View article: Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta Open
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel…
View article: O20 A case series of paediatric primary Sjögren’s syndrome: differential diagnoses and multidisciplinary management
O20 A case series of paediatric primary Sjögren’s syndrome: differential diagnoses and multidisciplinary management Open
Case report - Introduction Two cases of primary Sjögren’s syndrome presenting in a child with recurrent salivary gland enlargement are described. As a condition which rarely presents in childhood, these cases underline the need to consider…
View article: Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with<i>MMP20</i>
Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with<i>MMP20</i> Open
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of ten families with recessive hypomaturation AI revealed 4 novel and 1 known variants…
View article: A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta Open
Amelogenesis is the process of enamel formation. For amelogenesis to proceed, the cells of the inner enamel epithelium (IEE) must first proliferate and then differentiate into the enamel-producing ameloblasts. Amelogenesis imperfecta (AI) …
View article: New missense variants in <i>RELT</i> causing hypomineralised amelogenesis imperfecta
New missense variants in <i>RELT</i> causing hypomineralised amelogenesis imperfecta Open
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT , encoding an or…
View article: Developing a quick, cost-effective genetic screen for enamel disease
Developing a quick, cost-effective genetic screen for enamel disease Open
Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterised by abnormal enamel formation. According to the AI Leiden Open Variant Database (LOVD) hosted by Leeds University (http://dna2.leeds.ac.uk/LOVD/), the…
View article: Data associated with "Salivary lubricity (ex vivo) enhances upon moderate exercise: A pilot study"
Data associated with "Salivary lubricity (ex vivo) enhances upon moderate exercise: A pilot study" Open
Raw data for all figures in the associated paper Salivary lubricity (ex vivo) enhances upon moderate exercise: A pilot study
View article: Phenotype and Variant Spectrum in the <i>LAMB3</i> Form of Amelogenesis Imperfecta
Phenotype and Variant Spectrum in the <i>LAMB3</i> Form of Amelogenesis Imperfecta Open
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 ( LAMB3) cause…
View article: Novel<i>DLX3</i>variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
Novel<i>DLX3</i>variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome Open
Objectives Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic condition with hair, nail and bony changes, taurodontism and amelogenesis imperfecta (AI), inherited in an autosomal dominant fashion. Different…
View article: Dentin dysplasia: diagnostic challenges
Dentin dysplasia: diagnostic challenges Open
Dentin dysplasia(DD) is a rare autosomal dominant disorder associated with disturbance of the dentin. While the crowns appear clinically normal, on radiography, the pulp spaces appear partially or completely obliterated, with short blunted…
View article: Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Amelogenesis Imperfecta; Genes, Proteins, and Pathways Open
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function …
View article: A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities
A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities Open
"Amelogenesis imperfecta" (AI) describes a group of genetic conditions that result in defects in tooth enamel formation. Mutations in many genes are known to cause AI, including the gene encoding the serine protease, kallikrein related pep…
View article: Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta Open
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT…
View article: Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress Open
'Amelogenesis imperfecta' (AI) describes a group of inherited diseases of dental enamel that have major clinical impact. Here, we identify the aetiology driving AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mu…
View article: Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta
Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta Open
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in the final stage of…
View article: Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Spectrum of PEX1 and PEX6 variants in Heimler syndrome Open
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or …