A5004573736- Muscle Physiology and Disorders
- RNA Research and Splicing
- Nuclear Structure and Function
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- RNA and protein synthesis mechanisms
- Biotin and Related Studies
- Inflammatory Bowel Disease
- Silk-based biomaterials and applications
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- Immunodeficiency and Autoimmune Disorders
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Genetic Neurodegenerative Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Helicobacter pylori-related gastroenterology studies
- Proteoglycans and glycosaminoglycans research
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
Public Library of Science
2013-2024
Guy's Hospital
2000-2013
King's College London
2004-2013
Ninewells Hospital
2010
Guy's and St Thomas' NHS Foundation Trust
2010
Amgen (United Kingdom)
2009
Cambridge University Hospitals NHS Foundation Trust
2009
St. Luke's Hospital
2006
King's College School
2005
King's College Hospital
2001
Emery–Dreifuss muscular dystrophy (EDMD) is a heterogeneous late-onset disease involving skeletal muscle wasting and heart defects caused, in minority of cases, by mutations either two genes encoding the inner nuclear membrane (INM) proteins, emerin lamins A/C. Nesprin-1 -2 are multi-isomeric, spectrin-repeat proteins that bind both A/C form network linking nucleoskeleton to INM, outer membrane, membraneous organelles, sarcomere actin cytoskeleton. Thus, disruptions nesprin/lamin/emerin...
In search of vascular smooth muscle cell differentiation markers, we identified two genes encoding members a new family type II integral membrane proteins. Both are ubiquitously expressed, and tissue-specific alternative mRNA initiation splicing generate at least major isoforms each protein, with the smaller being truncated N-terminus. We have named these proteins nesprin-1 -2 for nuclear envelope spectrin repeat, as they characterized by presence multiple, clustered repeats, bipartite...
Journal Article Protein truncation test (PTT) for rapid detection of translation-terminating mutations Get access Pauline A.M. Roest, Roest Search other works by this author on: Oxford Academic PubMed Google Scholar Roland G. Roberts, Roberts 1Paediatric Research Unit, Division Medical and Molecular Genetics, Guy's HospitalLondon SE1 9RT, UK Shigeto Sugino, Sugino Gert-Jan B. van Ommen, Ommen Johan T. den Dunnen * *To whom correspondence should be addressed Human Volume 2, Issue 10, October...
Nesprin-2 is a multi-isomeric, modular protein composed of variable numbers spectrin-repeats linked to C-terminal transmembrane domain and/or N-terminal paired calponin homology (CH) domains. The smaller isoforms nesprin-2 co-localize with and bind lamin A emerin at the inner nuclear envelope (NE). In SW-13 cells, which lack A/C, epitopes were both mislocalized formed aggregates in endoplasmic reticulum (ER). larger other CH-domain-containing heterochromatin within nucleus are also present...
Defining the range of mutations in genes that cause human disease is essential to determine mechanisms genetic variation and function gene domains perform precise carrier prenatal diagnosis. The one-third Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements dystrophin gene. size complexity have prohibited systematic definition point mutations. We developed a method for identification these by nested amplification, chemical mismatch detection,...
Imprinted genes undergo epigenetic modifications during gametogenesis, which lead to transcriptional silencing of either the maternally or paternally derived allele in subsequent generation. Previous work has suggested an association between imprinting and products retrotransposition, but nature this link is not well defined. In mouse, three imprinted have been described that originated by retrotransposition overlap CpG islands methylation oogenesis. Nap1l5, U2af1-rs1, Inpp5f_v2 are likely...
DNA polymorphisms in a region on chromosome 5q33.1 which contains two genes, immunity related GTPase family, M (IRGM) and zinc finger protein 300 (ZNF300), are associated with Crohn's disease (CD). The deleted allele of 20 kb copy number variation (CNV) upstream IRGM was recently shown to be strong linkage disequilibrium (LD) the CD-associated single nucleotide is itself CD (P < 0.01). deletion correlated increased or reduced expression transformed cells cell line-dependent manner, has been...
Journal Article Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus Get access D.R. Dunbar, Dunbar Search for other works by this author on: Oxford Academic PubMed Google Scholar P.A. Moonie, Moonie R.J. Swingler, Swingler 1University Department Neurology Dundee Royal InfirmaryDundee, UK D. Davidson, Davidson R. Roberts, Roberts I.J. Holt * *To whom correspondence should be addressed Human Molecular Genetics, Volume 2, Issue 10,...
Deletions in the dystrophin gene give rise to both Duchenne and Becker muscular dystrophies. Good correlation is generally found between severity of phenotype effect deletion on reading frame: deletions that disrupt frame result a severe phenotype, while are associated with milder disease course. Rare exceptions this rule, mainly owing frameshift mutations 5' region (in particular involving exons 3 7) which than expected have been reported previously. In order characterise better...
Members of the dystrophin family proteins perform a critical but incompletely characterized role in maintenance membrane-associated complexes at points intercellular contact many vertebrate cell types. They interact with, amongst others, transmembrane laminin receptor dystroglycan, cytoskeletal actin and, indirectly, intracellular signalling enzyme neuronal nitric oxide synthase (nNOS). Here we describe sequences range dystrophin-related from and invertebrate animals (including important...
The neurofibromatosis type 1 (NF1) gene encodes a large tumor suppressor protein (neurofibromin). Although it is known to possess Ras GTPase-activating (GAP) activity, the cellular role of neurofibromin remains unclear. Here we used yeast two-hybrid screening identify neurofibromin-interacting proteins. Syndecan-2, transmembrane heparan sulfate proteoglycan (HSPG), was isolated as binding partner for two distinct regions protein. We subsequently found that can bind all four mammalian...
The recent development of multiplex ligation-dependent probe amplification (MLPA) has provided an efficient and reliable assay for dosage screening multiple loci in a single reaction. However, drawback to this method is the time-consuming process generating set by cloning single-stranded bacteriophage vectors. We have developed synthetic screen deletions region spanning 18.5 Mb within chromosome 3q. In pilot study, we tested 15 probes on 4 control samples 2 patients previously found possess...