Research Topics
Genomes and Genes
| John B VincentSummaryAffiliation: Centre for Addiction and Mental Health Country: Canada Publications
| Collaborators
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Detail Information
Publications
Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophreniaSophocles Voineskos
Neurogenetics Section, Clarke Site, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ont
J Psychiatry Neurosci 32:412-6. 2007..Schizophrenia patients are usually heavy smokers. In this study we hypothesized that high-affinity nicotinic receptors are associated with smoking in such patients...
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
Psychiatr Genet 18:101-9. 2008..Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism...- A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disabilityMuzammil Ahmad Khan
Department of Biochemistry, Quaid i Azam University Islamabad, Islamabad, Pakistan
BMC Med Genet 12:56. 2011..In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date... - Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent
Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009..While a role for SH3TC2, ADRB2, and HTR4 as putative candidate genes for autism cannot be discounted, a role for the desmocollin genes at the 18q breakpoint should also be considered... 
Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probandsJohn B Vincent
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada
Am J Med Genet B Neuropsychiatr Genet 129:82-4. 2004..Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism...- Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autismJohn B Vincent
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Am J Med Genet B Neuropsychiatr Genet 125:54-6. 2004..05)... - Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X regionJohn B Vincent
Molecular Psychiatry Laboratory, Department of Psychiatry and Behavioural Sciences, Windeyer Institute of Medical Science, University College London, London
Psychiatr Genet 15:83-90. 2005..1 for a broad phenotype diagnostic model. Thus, this study offers modest support for a susceptibility locus for autism within the Xq27-q28 region. Further genetic investigations of this region are warranted... - Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong KongAlbert K Mensah
Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
Schizophr Res 95:228-35. 2007..016). This study suggests that the 4q breakpoint regions may harbour a gene that contributes to the illness in the large Hong Kong pedigree, and this 4q25 region should be examined further in other schizophrenia samples... - Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007..We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay... - CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaAbdul Noor
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
Am J Hum Genet 82:1011-8. 2008..Identifying the function of CC2D2A, and a possible common pathway with CC2D1A, in correct neuronal development and functioning may help identify possible therapeutic targets for MR... - Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Sci Transl Med 2:49ra68. 2010..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability... - Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 159:210-6. 2012..Altogether, our work further supports our hypothesis that MECP2_e1 is the predominant isoform involved in the neuropathology of Rett syndrome... - Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
Am J Hum Genet 90:856-63. 2012..The ID combined with a unique profile of comorbid features presented here makes this an important genetic discovery, and the involvement of NSUN2 highlights the role of RNA methyltransferase in human neurocognitive development... - Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3Abdul Noor
Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
Am J Hum Genet 84:519-23. 2009.... - Structural variation of chromosomes in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
Am J Hum Genet 82:477-88. 2008..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup... - Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Hum Genet 89:176-82. 2011..MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency in patients with NS-ARID from different populations... - Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism... - An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger
Neurogenetics Section, The Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, M5T 1R8, Canada
Am J Hum Genet 82:88-99. 2008..Mutation screening of FHL1 should be considered for patients with uncharacterized myopathies and cardiomyopathies... - A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Nat Genet 36:339-41. 2004..Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome... - Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorderM Teresa Fortune
Neurogenetics Section, Centre for Addiction and Mental Health, Clarke Division, 250 College Street, Toronto, ON M5T 1R8, Canada
Curr Psychiatry Rep 5:145-54. 2003..However, despite promising findings in the mid-1990s, no trinucleotide repeat expansion has yet been identified as a cause of idiopathic schizophrenia or BPAD... - Adrenergic alpha 2C receptor genomic organization: association study in adult ADHDVincenzo De Luca
Psychiatric Neurogenetics, Department of Psychiatry, Clarke Site, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 127:65-7. 2004..There was no preferential transmission of any allele. These findings exclude a strong effect of this ADRA2C marker on risk for ADHD in our sample of adult proband families... - Functional impact of global rare copy number variation in autism spectrum disordersDalila Pinto
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
Nature 466:368-72. 2010..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways... - Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein familyFelipe A Cisternas
Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada
Genomics 81:279-91. 2003..We identified several nucleotide substitutions, including only one that would affect the amino acid sequence. No disease-specific variants were identified... - The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript systemJohn B Vincent
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, M5G 1X8, Canada
Genomics 80:283-94. 2002..The RAY1/ST7 may generate at least 18 possible isoforms, with many more arising if other sense-strand exons from ST7OT3 and ST7 OT4 are used in a selective and possibly tissue-specific manner... - Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaLars Feuk
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 79:965-72. 2006..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development... - Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatmentVincenzo De Luca
Neurogenetics Section, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, 250 College Street R 30, Toronto, Ont, Canada M5T 1R8
Pharmacol Res 51:381-4. 2005..Our results suggest that the novel polymorphism may not play a major role in antipsychotic response... - Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancerRiad Haddad
Department of Surgery, Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, 600 University Ave, Suite 1225, Toronto, Ont. M5G IX5, Canada
Cancer Lett 203:87-90. 2004..No somatic mutations of the RAY1/ST7 gene were observed. Our results do not support a role for RAY1/ST7 as a colorectal cancer tumor suppressor gene... - Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxiaYoshio Ikeda
Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
Am J Hum Genet 75:3-16. 2004.... - Mapping autism risk loci using genetic linkage and chromosomal rearrangementsPeter Szatmari
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
Nat Genet 39:319-28. 2007..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs... - Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndromeErwin Petek
Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21 8, 8010, Graz, Austria
Mol Genet Genomics 277:71-81. 2007..Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder... - Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologueThomas Schwarzbraun
Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria
Genomics 84:577-86. 2004..We identified two novel SNPs in the intron-exon boundaries; however, they did not segregate only with affected subjects in the predicted model of an autosomal dominant disease such as IBGC... - Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)Thomas Schwarzbraun
Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz 8010, Austria
Eur J Med Genet 49:338-45. 2006.... - Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier
Department of Biology, McGill University, Montreal, Canada
Can J Neurol Sci 32:321-6. 2005.... - De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorderPeter M Kroisel
Am J Med Genet A 129:98-100. 2004 - Recent advances in the nutritional biochemistry of trivalent chromiumJohn B Vincent
Department of Chemistry and Coalition for Biomolecular Products, The University of Alabama, Tuscaloosa, AL 35487 0336, USA
Proc Nutr Soc 63:41-7. 2004..An examination of the nutritional supplement chromium picolinate illustrates some of the difficulties associated with these biochemical studies... - Characterization of chromodulin by X-ray absorption and electron paramagnetic resonance spectroscopies and magnetic susceptibility measurementsLilian Jacquamet
Department of Applied Science, University of California, Davis 95616, USA
J Am Chem Soc 125:774-80. 2003..Thus, chromodulin possesses a unique type of multinuclear assembly, distinct from those known in other bioinorganic systems... - A role for common fragile site induction in amplification of human oncogenesAsaf Hellman
Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem 91904, Israel
Cancer Cell 1:89-97. 2002..Upon replication stress, this region showed perturbed chromatin organization, predisposing it to breakage. Thus, in vivo induction of CFSs can play an important role in human oncogenesis... - The fate of the biomimetic cation triaqua-mu-oxohexapropionatotrichromium(III) in ratsAmanda A Shute
Department of Chemistry and Coalition for Biomolecular Products, The University of Alabama, Tuscaloosa 35487-0336, USA
J Inorg Biochem 89:272-8. 2002..The complex appears to be readily incorporated into tissues and cells. In hepatocytes, the cation is efficiently transported into microsomes where its concentration reaches a maximum in approximately 2 h...