List of works - Alan J. Mighell

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

scientific article

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

scientific article published on 4 October 2015

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

scientific article published on 9 November 2015

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

scientific article published on 06 December 2013

A systematic review of medical interventions for oral submucous fibrosis and future research opportunities

scientific article published on April 2011

Alu sequences

scientific article published on November 1997

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

scientific article

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

scientific article

Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease? ⬇️

scientific article published on 08 June 2015

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

scientific article published on 17 May 2017

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

scientific article

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

scientific article published on 12 July 2016

Development of a managed clinical network in oral medicine ⬇️

scientific article

Expression of mOb1, a novel atypical 73 amino acid K50-homeodomain protein, during mouse development ⬇️

scientific article (publication date: December 2002)

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

Human Disease/Clinical Medical Sciences in Dentistry: Current state and future directions of undergraduate teaching in the UK and Ireland.

scientific article published on 18 April 2018

Human tenascin-C: Identification of a novel type III repeat in oral cancer and of novel splice variants in normal, malignant and reactive oral mucosae ⬇️

scientific article published on July 17, 1997

Identification of microcephalin, a protein implicated in determining the size of the human brain

scientific article

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

scientific article

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

scientific article

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

scientific article

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

scientific article published on 20 September 2016

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

scientific article published on 12 February 2020

Oral cancer - improving early detection and promoting prevention. Are you up to date?

scientific article published in September 2012

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations ⬇️

scientific article

Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells

scientific article published on March 2006

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

scientific article

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

scientific article published on 15 June 2016

The use of topical steroid preparations in oral medicine in the UK.

scientific article published on 3 November 2017

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

scientific article published on 21 February 2015

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️

scientific article

List of works by Alan J. Mighell

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

A systematic review of medical interventions for oral submucous fibrosis and future research opportunities

Alu sequences

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease? ⬇️

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

Development of a managed clinical network in oral medicine ⬇️

Expression of mOb1, a novel atypical 73 amino acid K50-homeodomain protein, during mouse development ⬇️

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

Human Disease/Clinical Medical Sciences in Dentistry: Current state and future directions of undergraduate teaching in the UK and Ireland.

Human tenascin-C: Identification of a novel type III repeat in oral cancer and of novel splice variants in normal, malignant and reactive oral mucosae ⬇️

Identification of microcephalin, a protein implicated in determining the size of the human brain

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Oral cancer - improving early detection and promoting prevention. Are you up to date?

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations ⬇️

Phenotypic changes associated with DYNACTIN-2 (DCTN2) over expression characterise SJSA-1 osteosarcoma cells

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

The use of topical steroid preparations in oral medicine in the UK.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️