A5013206705- Renal and related cancers
- Developmental Biology and Gene Regulation
- Genomics and Chromatin Dynamics
- Retinal Development and Disorders
- Monoclonal and Polyclonal Antibodies Research
- Ocular Disorders and Treatments
- Animal Genetics and Reproduction
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Congenital heart defects research
- Connexins and lens biology
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Glycosylation and Glycoproteins Research
- T-cell and B-cell Immunology
- Retinal Diseases and Treatments
- Genetics and Neurodevelopmental Disorders
- Pluripotent Stem Cells Research
- Nutrition, Genetics, and Disease
University College London
2004-2024
Institute of Genetics and Cancer
2014-2024
University of Edinburgh
2014-2024
University of Leeds
2022
Wellcome Trust
2001-2022
St James's University Hospital
2022
Moorfields Eye Hospital
2018-2019
Western General Hospital
2006-2017
Medical Research Council
2001-2017
European Molecular Biology Organization
2012-2013
Distinct classes of motor neurons and ventral interneurons are generated by the graded signaling activity Sonic hedgehog (Shh). Shh controls neuronal fate establishing different progenitor cell populations in neural tube that defined expression Pax6 Nkx2.2. establishes distinct identity interneurons, mediating spinal cord hindbrain.
Neural stem cell self-renewal, neurogenesis, and fate determination are processes that control the generation of specific classes neurons at correct place time. The transcription factor Pax6 is essential for neural proliferation, multipotency, neurogenesis in many regions central nervous system, including cerebral cortex. We used as an entry point to define cellular networks controlling self-renewal cells developing mouse identified genomic binding locations neocortical during normal...
Abstract Post-mitotic neurons generated at the rhombic lip undertake long distance migration to widely dispersed destinations, giving rise cerebellar granule cells and precerebellar nuclei. Here we show that Pax6, a key regulator in CNS eye development, is strongly expressed migrating away from it. Development of some structures derived these severely affected Pax6-null Small (Pax6Sey/Pax6Sey) embryos. Cell proliferation initial differentiation seem unaffected, but cell neurite extension are...
In the proliferative zone of developing cerebral cortex, multipotential progenitors predominate early in development and divide to increase progenitor pool. As corticogenesis progresses, proportionately fewer are produced and, instead, cell divisions yield higher numbers postmitotic neurones or glial cells. switch from generation that differentiated cells occurs, orientation division alters predominantly symmetrical asymmetrical. It has been hypothesised expand pool, whereas asymmetrical...
The technique of whole-genome polymerase chain reaction was used to study the DNA binding properties product wt1 gene. zinc finger region this gene is alternatively spliced such that major transcript encodes a protein with three extra amino acids between third and fourth fingers. minor form binds specifically DNA. It now shown messenger RNA specificity differs from form. Therefore, alternative splicing within domain transcription factor can generate proteins distinct specificities probably...
Abstract Heterozygous, de novo, loss‐of‐function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with five individuals reported and four newly identified cases (including first missense mutation). The ‐associated ocular malformations are variable type, but most often severe. Of nine patients, six had anophthalmia two contralateral microphthalmia sclerocornea. remaining case microphthalmia, posterior...