A5012485789- Microtubule and mitosis dynamics
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Molecular Biology Techniques and Applications
- Plant Disease Resistance and Genetics
- Cancer therapeutics and mechanisms
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Ubiquitin and proteasome pathways
- Plant tissue culture and regeneration
- Epigenetics and DNA Methylation
- Chromosomal and Genetic Variations
- Skin Protection and Aging
- Congenital heart defects research
- Advanced biosensing and bioanalysis techniques
- CRISPR and Genetic Engineering
- interferon and immune responses
- Retinal Development and Disorders
- Connexins and lens biology
- Nonmelanoma Skin Cancer Studies
- Hedgehog Signaling Pathway Studies
- Pain Mechanisms and Treatments
- Nuclear Structure and Function
- Plant nutrient uptake and metabolism
- Ocular Disorders and Treatments
Semtech (United States)
2024
University of Leeds
1999-2017
St James's University Hospital
1997-2010
Wellcome Trust
2010
Institute of Molecular Medicine
2006
Abstract Background Mutations in the A bnormal Sp indle M icrocephaly related gene ( ASPM) are commonest cause of autosomal recessive primary microcephaly (MCPH) a disorder characterised by small brain and associated mental retardation. ASPM encodes mitotic spindle pole protein. It is suggested that MCPH phenotype arises from proliferation defects neural progenitor cells (NPC). Results We show microtubule minus end-associated protein recruited microtubule-dependent manner to pericentriolar...
<b>Background and objectives:</b> Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) to date five loci have been mapped. However, the relative contributions of these not assessed genotype-phenotype correlations investigated. <b>Design:</b> A study population 56 consanguineous families resident or originating from northern Pakistan was ascertained by authors. panel microsatellite markers spanning each MCPH designed, against which were genotyped....
Whilst chemical cleavage of mismatch (CCM) detects all point mutations in DNA, its widespread use has been hampered by the complex multistage methodology and need for toxic chemicals, particular osmium tetroxide. Here we show that tetroxide can be replaced potassium permanganate, giving same spectrum mutation detection, but with greater sensitivity. The permanganate is compatible solid phase capture fluorescent a safer method detection. We present here comparison CCM tested on complete set...
Skin cancer risk is increased by exposure to ultraviolet radiation (UVR). Because UVR accumulates over time and lighter skin more susceptible UVR, age tone are factors for cancer. However, measurements of somatic mutations in healthy-appearing have not been used calculate risk. In this study, we developed a noninvasive test that quantifies sun-exposed applied it 1038-subject cohort. Somatic were combined with other known train model The final (DNA-Skin Cancer Assessment Risk) was trained...
Two mutation detection methods based on the cleavage of mismatched heteroduplexes were compared and evaluated. These techniques, chemical mismatch (CCM) enzyme (EMC), have advantages over other available being able to detect localize mutations in relatively large fragments DNA (> or = 1 kb). We constructed clones that enable us create 500 bp, kb, 1.5 kb assessed each a range criteria. Both all four types single-base insertion/deletions 1-5 bp. Whereas EMC was efficient at broad size has...