• Publications
  • Influence
Identification of microcephalin, a protein implicated in determining the size of the human brain.
TLDR
It is reported that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype, and this gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Expand
Vertebrate pseudogenes
TLDR
This review concentrates on vertebrate, and in particular mammalian, pseudogenes and describes their origin and subsequent evolution. Expand
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
TLDR
The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. Expand
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
TLDR
A new assay based on SYBR-Green I binding that is quick, reliable, easily optimised and compares well with the published assay, providing accurate diagnostic results in less time, from less biopsy material and at less cost than assays currently employed such as FISH or Southern blotting. Expand
Proliferating cell nuclear antigen.
  • A. Mighell
  • Medicine
  • Oral surgery, oral medicine, oral pathology, oral…
  • 1 July 1995
Discovered as an antigen in the autoimmune disease systemic lupus erythematosis Co-localized with incorporated bromodeoxyuridine in S-phase 1987 Prelich et al. provided proof of PCNA's role in DNAExpand
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
TLDR
HS is defined as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6, and it is demonstrated that each HS-affected family has at least one hypomorphic allele that results in extremely mild peroxisomal dysfunction. Expand
A systematic review of medical interventions for oral submucous fibrosis and future research opportunities.
TLDR
This systematic review explored and updated the current medical interventions available for the management of oral submucous fibrosis and identified opportunities to provide recommendations for future research in terms of the populations to research, the types of interventions needed, thetypes of outcomes to be measured, the study designs needed, and the infrastructure required to conduct studies. Expand
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
TLDR
This study confirms for the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted Ambn function are valid. Expand
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
TLDR
It is demonstrated that human tenascin‐C transcripts generate a complex but selected repertoire of different alternative splice products, which indicates that many potential splice variants probably do not exist in the tissues investigated. Expand
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
TLDR
A combination of autozygosity mapping and exome sequencing and examination of previously generated Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis, supporting a key role for SLC24A4 in calcium transport during enamel formation. Expand
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