Search Results - (Author, Cooperation:P. Holmans)
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1M. Fromer ; A. J. Pocklington ; D. H. Kavanagh ; H. J. Williams ; S. Dwyer ; P. Gormley ; L. Georgieva ; E. Rees ; P. Palta ; D. M. Ruderfer ; N. Carrera ; I. Humphreys ; J. S. Johnson ; P. Roussos ; D. D. Barker ; E. Banks ; V. Milanova ; S. G. Grant ; E. Hannon ; S. A. Rose ; K. Chambert ; M. Mahajan ; E. M. Scolnick ; J. L. Moran ; G. Kirov ; A. Palotie ; S. A. McCarroll ; P. Holmans ; P. Sklar ; M. J. Owen ; S. M. Purcell ; M. C. O'Donovan
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-01-28Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Child Development Disorders, Pervasive/genetics ; Cytoskeletal Proteins/metabolism ; Exome/genetics ; Fragile X Mental Retardation Protein/metabolism ; Humans ; Intellectual Disability/genetics ; *Models, Neurological ; Mutation/*genetics ; Mutation Rate ; Nerve Net/*metabolism/physiopathology ; Nerve Tissue Proteins/metabolism ; Neural Pathways/*metabolism/physiopathology ; Phenotype ; RNA, Messenger/genetics/metabolism ; Receptors, N-Methyl-D-Aspartate/metabolism ; Schizophrenia/*genetics/metabolism/*physiopathology ; Substrate Specificity ; Synapses/*metabolismPublished by: -
2Staff View
Publication Date: 2018-06-22Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyGeosciencesComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Genetics, Medicine, Diseases, Online OnlyPublished by: -
3Wood, N. W. ; Sawcer, S. J. ; Kellar-Wood, H. F. ; Holmans, P. ; Clayton, D. ; Robertson, N. ; Compston, D. A. S.
Springer
Published 1995Staff ViewISSN: 1432-1459Keywords: Multiple sclerosis ; Immunoglobulin ; Gene ; Heavy chainSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract A haplotype marker consisting of three biallelic restriction fragment length polymorphism (RFLP) loci from theVH-2 variable gene family was examined in 124 families with sibling pairs concordant for multiple sclerosis, 178 unrelated patients and 159 unaffected controls to investigate the role of the immunoglobulin heavy chain gene cluster in susceptibility to multiple sclerosis. Evidence for linkage was assessed using the affected sibling pair method of identity by descent, modified to allow for haplotype sharing on a probabilistic basis in families where haplotypes could not be assigned with certainty. The estimated probabilities of affected siblings sharing 0, 1 or 2 haplotypes were Z0 = 0.20, Z1 = 0.45, Z2 = 0.35. This deviation from the expected sharing probabilities of Z0 = 0.25, Z1 = 0.5, Z2 = 0.25 provides evidence for weak linkage (P 〈 0.05; equivalent to a lod score of 0.84); however, no significant allelic or haplotypic association was observed. Linkage without a population association suggests that a gene encoded on14q confers susceptibility to multiple sclerosis, although this is not any of the existingVH-2 polymorphisms.Type of Medium: Electronic ResourceURL: -
4Staff View
ISSN: 1617-4623Source: Springer Online Journal Archives 1860-2000Topics: BiologyNotes: Summary We have constructed a pBR322 plasmid derivative which expresses dnaA protein under the control of the E. coli lac UV5 promotor. Expression of the dnaA protein from the plasmid is inducible by isopropyl-β-D-thiogalactoside. In a dnaA + strain induction has no effect on the accumulation of DNA. In contrast, in a thermosensitive dnaA46 strain, induction, at either the permissive or the nonpermissive temperature, results in an immediate stimulation of DNA accumulation. We conclude that, while in a dnaA46 strain dnaA protein limits DNA replication, in a dnaA + strain dnaA protein activity does not control the timing of replication initiation.Type of Medium: Electronic ResourceURL: