John B Vincent

Summary

Affiliation: Centre for Addiction and Mental Health
Country: Canada

Publications

  1. pmc Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia
    Sophocles 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
  2. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Psychiatr Genet 18:101-9. 2008
  3. pmc A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
    Muzammil Ahmad Khan
    Department of Biochemistry, Quaid i Azam University Islamabad, Islamabad, Pakistan
    BMC Med Genet 12:56. 2011
  4. ncbi request reprint Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region
    John 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
  5. ncbi request reprint Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism
    John 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
  6. ncbi request reprint Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada
    Am J Med Genet B Neuropsychiatr Genet 129:82-4. 2004
  7. doi request reprint 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 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
  8. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert K Mensah
    Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
    Schizophr Res 95:228-35. 2007
  9. ncbi request reprint Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris 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
  10. pmc CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
    Am J Hum Genet 82:1011-8. 2008

Detail Information

Publications45

  1. pmc Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia
    Sophocles 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...
  2. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John 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...
  3. pmc A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
    Muzammil 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...
  4. ncbi request reprint Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region
    John 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...
  5. ncbi request reprint Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism
    John 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)...
  6. ncbi request reprint Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
    John 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...
  7. doi request reprint 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 18q
    John 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...
  8. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert 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...
  9. ncbi request reprint Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris 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...
  10. pmc CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
    Abdul 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...
  11. pmc Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
    Abdul 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...
  12. doi request reprint Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Hum Mol Genet 22:2055-66. 2013
    ..Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions...
  13. doi request reprint Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2
    Peter 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...
  14. pmc Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
    Muzammil 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...
  15. pmc Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3
    Abdul 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
    ....
  16. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian 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...
  17. ncbi request reprint Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
    Gerald Egger
    Neurogenetics Section, R 30, The Campbell Family Brain Research Institute, The Centre for Addiction and Mental Health CAMH, 250 College Street, Toronto, ON, M5T 1R8, Canada
    Neurogenetics 15:117-27. 2014
    ..Several others disrupt genes that have previously been implicated in autism, such as BDNF, AUTS2, DPP6, and C18orf22, and our data add to the growing evidence of their involvement in ASD...
  18. pmc Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
    Wei Xu
    Neurogenetics Section, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health CAMH, R 32, 250 College Street, Toronto, ON M5T 1R8, Canada
    BMC Med Genet 15:2. 2014
    ..Recently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including bipolar disorder (BD)...
  19. pmc A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
    Taimoor I Sheikh
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada
    Orphanet J Rare Dis 8:108. 2013
    ..To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype...
  20. pmc Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
    Muhammad 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...
  21. ncbi request reprint A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    Gevork 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...
  22. ncbi request reprint Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder
    M 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...
  23. pmc Human chromosome 7: DNA sequence and biology
    Stephen 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...
  24. pmc An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
    Christian 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...
  25. ncbi request reprint Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes
    Abdul Noor
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 165:303-13. 2014
    ..Further, the identification of CNVs at multiple members of the neurexin gene family in BD individuals, supports the role of synaptic disruption in the etiology of BD...
  26. pmc Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
    Lars 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...
  27. ncbi request reprint Adrenergic alpha 2C receptor genomic organization: association study in adult ADHD
    Vincenzo 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...
  28. pmc Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression
    Marija Orlic-Milacic
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    PLoS ONE 9:e91742. 2014
    ....
  29. pmc Functional impact of global rare copy number variation in autism spectrum disorders
    Dalila 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...
  30. ncbi request reprint The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system
    John 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...
  31. ncbi request reprint Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment
    Vincenzo 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...
  32. ncbi request reprint Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family
    Felipe 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...
  33. ncbi request reprint Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer
    Riad 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...
  34. ncbi request reprint Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue
    Thomas 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...
  35. pmc Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia
    Yoshio 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
    ....
  36. ncbi request reprint Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
    Erwin 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...
  37. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter 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...
  38. ncbi request reprint Clinical stringency greatly improves mutation detection in Rett syndrome
    Julie Gauthier
    Department of Biology, McGill University, Montreal, Canada
    Can J Neurol Sci 32:321-6. 2005
    ..Here, we study the impact of the presence versus the absence of the use of diagnostic criteria from the RDC to make a diagnosis of RTT on MECP2 mutation detection in Canadian patients diagnosed and suspected of having RTT...
  39. ncbi request reprint Recent advances in the nutritional biochemistry of trivalent chromium
    John 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...
  40. ncbi request reprint A role for common fragile site induction in amplification of human oncogenes
    Asaf 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...
  41. ncbi request reprint The fate of the biomimetic cation triaqua-mu-oxohexapropionatotrichromium(III) in rats
    Amanda 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...
  42. ncbi request reprint Characterization of chromodulin by X-ray absorption and electron paramagnetic resonance spectroscopies and magnetic susceptibility measurements
    Lilian 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...
  43. ncbi request reprint De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder
    Peter M Kroisel
    Am J Med Genet A 129:98-100. 2004
  44. ncbi request reprint 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
    ....