S D Detera-Wadleigh

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Identity-by-descent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives
    Nirmala Akula
    Mood and Anxiety Section, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    BMC Proc 5:S76. 2011
  2. doi request reprint A systems approach to the biology of mood disorders through network analysis of candidate genes
    S D Detera-Wadleigh
    Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892 3719, USA
    Pharmacopsychiatry 44:S35-42. 2011
  3. ncbi request reprint Sequence variation in DOCK9 and heterogeneity in bipolar disorder
    Sevilla D Detera-Wadleigh
    Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, National Institute of Mental Health Intramural Research Program, National Institutes of Health U S DHHS, 35 Convent Drive, Bethesda, MD 20892, USA
    Psychiatr Genet 17:274-86. 2007
  4. pmc Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q
    S D Detera-Wadleigh
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA
    Am J Hum Genet 58:1279-85. 1996
  5. ncbi request reprint The genomic structure of the human glucocorticoid receptor
    I J Encio
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, Maryland 20892
    J Biol Chem 266:7182-8. 1991
  6. ncbi request reprint Serotonin transporter (5-HTT) gene and bipolar affective disorder
    L E Esterling
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet 81:37-40. 1998
  7. ncbi request reprint An integrated physical map of 18p11.2: a susceptibility region for bipolar disorder
    L E Esterling
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Psychiatry 2:501-4. 1997
  8. ncbi request reprint Isolation of chromosome 18-specific brain transcripts as positional candidates for bipolar disorder
    T Yoshikawa
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet 74:140-9. 1997
  9. ncbi request reprint A novel human myo-inositol monophosphatase gene, IMP.18p, maps to a susceptibility region for bipolar disorder
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Psychiatry 2:393-7. 1997
  10. ncbi request reprint Molecular analysis of microtubule-associated protein-2 kinase cDNA from mouse and rat brain
    C de Miguel
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, MD 20892
    DNA Cell Biol 10:505-14. 1991

Detail Information

Publications42

  1. pmc Identity-by-descent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives
    Nirmala Akula
    Mood and Anxiety Section, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    BMC Proc 5:S76. 2011
    ..IBD filtering may be a useful strategy for narrowing down the list of candidate variants in exome data, but the optimal degree of relatedness of affected pairs will depend on the genetic architecture of the disease under study...
  2. doi request reprint A systems approach to the biology of mood disorders through network analysis of candidate genes
    S D Detera-Wadleigh
    Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892 3719, USA
    Pharmacopsychiatry 44:S35-42. 2011
    ..Network analysis of meta analysis- generated candidate genes that exhibited differential expression in mood disorder brains identified signaling pathways and functional clusters that may be involved in genetic risk for mood disorders...
  3. ncbi request reprint Sequence variation in DOCK9 and heterogeneity in bipolar disorder
    Sevilla D Detera-Wadleigh
    Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, National Institute of Mental Health Intramural Research Program, National Institutes of Health U S DHHS, 35 Convent Drive, Bethesda, MD 20892, USA
    Psychiatr Genet 17:274-86. 2007
    ..Subsequent reports have shown that variations in the DAOA (G72) locus on 13q33 display association with bipolar disorder but these may not account for all of the linkage evidence in the region...
  4. pmc Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q
    S D Detera-Wadleigh
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA
    Am J Hum Genet 58:1279-85. 1996
    ..03-.0003). These findings support prior evidence that a susceptibility locus for bipolar disorder is on 21q...
  5. ncbi request reprint The genomic structure of the human glucocorticoid receptor
    I J Encio
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, Maryland 20892
    J Biol Chem 266:7182-8. 1991
    ..This comparison also permitted the prediction of the positions of the splice sites and the sizes of the putative exons in the human mineralocorticoid receptor...
  6. ncbi request reprint Serotonin transporter (5-HTT) gene and bipolar affective disorder
    L E Esterling
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet 81:37-40. 1998
    ..We also refined the location of 5-HTT by radiation hybrid mapping, placing the locus between D17S1294 and SHGC11022 on 17q11.2...
  7. ncbi request reprint An integrated physical map of 18p11.2: a susceptibility region for bipolar disorder
    L E Esterling
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Psychiatry 2:501-4. 1997
    ..This high resolution integrated map will be an important tool in providing loci for contig construction, and positional candidates for mutation screening...
  8. ncbi request reprint Isolation of chromosome 18-specific brain transcripts as positional candidates for bipolar disorder
    T Yoshikawa
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet 74:140-9. 1997
    ..The majority of the transcripts were found to cluster to discrete locations on 18p and 18q, previously hypothesized as susceptibility regions for bipolar disorder, identifying them as positional candidate genes...
  9. ncbi request reprint A novel human myo-inositol monophosphatase gene, IMP.18p, maps to a susceptibility region for bipolar disorder
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Psychiatry 2:393-7. 1997
    ..2 region. We, therefore, designated this novel gene as IMP.18p. The physical position and possible function suggest that IMP.18p is an important candidate gene for bipolar disorder...
  10. ncbi request reprint Molecular analysis of microtubule-associated protein-2 kinase cDNA from mouse and rat brain
    C de Miguel
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, MD 20892
    DNA Cell Biol 10:505-14. 1991
    ....
  11. ncbi request reprint Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genomics 47:246-57. 1998
    ..We also present evidence of RNA editing in the 5'-UTR of beta 2, the first demonstration of this phenomenon in 5'-UTR...
  12. ncbi request reprint Lack of linkage between the corticotropin-releasing hormone (CRH) gene and bipolar affective disorder
    C A Stratakis
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Psychiatry 2:483-5. 1997
    ....
  13. pmc Interaction networks of lithium and valproate molecular targets reveal a striking enrichment of apoptosis functional clusters and neurotrophin signaling
    A Gupta
    Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Pharmacogenomics J 12:328-41. 2012
    ..The convergence of biological responses unveils a functional signature for lithium and valproate that could be key modulators of their therapeutic efficacy...
  14. ncbi request reprint New variants of the human and rat nuclear hormone receptor, TR4: expression and chromosomal localization of the human gene
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, Bethesda, Maryland, 20892, USA
    Genomics 35:361-6. 1996
    ..In contrast, the human ovarian cancer cell line, PA1, failed to express hTR4alpha1. By fluorescence in situ hybridization, we have mapped the hTR4 gene to 3p25, a region deleted in some forms of cancer...
  15. pmc A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
    A E Baum
    Unit on the Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Disorders Program, US Department of Health and Human Services, National Institute of Mental Health, NIH, Bethesda, MD 20892, USA
    Mol Psychiatry 13:197-207. 2008
    ..This first genome-wide association study of bipolar disorder shows that several genes, each of modest effect, reproducibly influence disease risk. Bipolar disorder may be a polygenic disease...
  16. pmc A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2
    S D Detera-Wadleigh
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:5604-9. 1999
    ..By comprehensive screening of the entire genome, we detected unreported loci for bipolar disorder, found support for proposed linkages, and gained evidence for the overlap of susceptibility regions for bipolar disorder and schizophrenia...
  17. ncbi request reprint Splice variants of rat TR4 orphan receptor: differential expression of novel sequences in the 5'-untranslated region and C-terminal domain
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Endocrinology 137:1562-71. 1996
    ..N-Methyl-D-aspartate treatment triggered a marked increase in TR4 expression. These results suggest a possible role for TR4 in neuronal differentiation...
  18. ncbi request reprint Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene
    M Karl
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Endocrinol Metab 76:683-9. 1993
    ..The presence of the null allele was apparently compensated for by increased cortisol production at the expense of concurrent hyperandrogenism...
  19. ncbi request reprint Detection, simultaneous display and direct sequencing of multiple nuclear hormone receptor genes using bilaterally targeted RNA fingerprinting
    T Yoshikawa
    Unit on Gene Mapping and Expression, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Biochim Biophys Acta 1264:63-71. 1995
    ..We believe that this approach provides a convenient and rapid screening method for detecting and characterizing members of a gene family...
  20. pmc Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder
    T G Schulze
    Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892 3719, USA
    Mol Psychiatry 14:487-91. 2009
    ..Further analysis suggested that each marker contributed independently to BD, with no significant marker x marker interaction. Our findings strongly support ANK3 as a BD susceptibility gene and suggest true allelic heterogeneity...
  21. ncbi request reprint Assignment of the human nuclear hormone receptor, NUC1 (PPARD), to chromosome 6p21.1-p21.2
    T Yoshikawa
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, Maryland 20892, USA
    Genomics 35:637-8. 1996
  22. ncbi request reprint Genetic association studies in mood disorders: issues and promise
    Sevilla D Detera-Wadleigh
    Mood and Anxiety Disorders Program, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 3719, USA
    Int Rev Psychiatry 16:301-10. 2004
    ..Relating associated variants to the phenotype represents the next critical step toward establishing the pathogenic role of gene variants in mood disorders...
  23. ncbi request reprint G72/G30 in schizophrenia and bipolar disorder: review and meta-analysis
    Sevilla D Detera-Wadleigh
    National Institute of Mental Health Intramural Research Program, National Institutes of Health, U S Department of Health and Human Services, Bethesda, Maryland 20892 3719, USA
    Biol Psychiatry 60:106-14. 2006
    ..The association findings in the G72/G30 region, among the most compelling in psychiatry, may expose an important molecular pathway involved in susceptibility to schizophrenia and bipolar disorder...
  24. pmc Linkage of Niemann-Pick disease type C to human chromosome 18
    E D Carstea
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:2002-4. 1993
    ..84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18...
  25. ncbi request reprint Genomic structure and novel variants of myo-inositol monophosphatase 2 (IMPA2)
    T Yoshikawa
    Unit on Gene Mapping and Expression, Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Psychiatry 5:165-71. 2000
    ..By Fisher's exact test the silent mutation showed a trend for association (P = 0.051) with bipolar disorder suggesting that further scrutiny of this gene is warranted...
  26. ncbi request reprint Characterization of the human glucocorticoid receptor promoter
    Y Nobukuni
    Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Biochemistry 34:8207-14. 1995
    ..Our studies demonstrate that several transcription factors are involved in regulating GR expression and that AP2 could function as an important positive regulator of GR promoter activity...
  27. ncbi request reprint Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species
    B Sengupta
    Division of Intramural Research Programs, National Institute of Mental Health, Bethesda, Maryland 20892
    J Biol Chem 262:16663-70. 1987
    ..Transcripts of lambda rCB1 and lambda hCE1 were observed in all tissues examined indicating the absence of tissue-specific expression. Calmodulin gene polymorphisms were detected using TaqI, HindIII, and MspI...
  28. ncbi request reprint Lithium-related genetics of bipolar disorder
    S D Detera-Wadleigh
    National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD 20892 4094, USA
    Ann Med 33:272-85. 2001
    ..Similarly, lithium-sensitive gene products could provide a new generation of pharmacological targets...
  29. ncbi request reprint Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees
    Thomas G Schulze
    Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, Bethesda, USA
    Biol Psychiatry 56:18-23. 2004
    ....
  30. ncbi request reprint Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder
    Dilberto O Ferraren
    Genetic Basis for Mood and Anxiety Disorders, Mood and Anxiety Disorders Program, National Institute of Mental Health, Bethesda, Maryland, USA
    Am J Med Genet B Neuropsychiatr Genet 133:12-7. 2005
    ....
  31. pmc An SstI polymorphism for the human muscarinic acetylcholine receptor gene, m4 (CHRM 4)
    S D Detera-Wadleigh
    Clinical Neurogenetics Branch, National Institute of Mental Health, Bethesda, MD 20892
    Nucleic Acids Res 17:6431. 1989
  32. doi request reprint Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder
    Kenji Amano
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Japan
    Psychiatr Genet 18:1-10. 2008
    ....
  33. ncbi request reprint A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family
    Bora E Baysal
    Department of Psychiatry, The University of Pittsburgh Medical Center, Pennsylvania, USA
    Neurogenetics 4:43-53. 2002
    ..In conclusion, we found that a mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint co-segregating with BPAD in a family. However, its role in the disease susceptibility remains unconfirmed...
  34. ncbi request reprint Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1
    James B Potash
    Department of Psychiatry, Johns Hopkins University, Baltimore, Maryland 21287 7419, USA
    Am J Med Genet B Neuropsychiatr Genet 147:59-67. 2008
    ..Further work is needed to confirm these results and uncover the functional variation underlying the association signal...
  35. ncbi request reprint A promoter haplotype of the inositol monophosphatase 2 gene (IMPA2) at 18p11.2 confers a possible risk for bipolar disorder by enhancing transcription
    Tetsuo Ohnishi
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
    Neuropsychopharmacology 32:1727-37. 2007
    ..In conclusion, the present study suggests that a promoter haplotype of IMPA2 possibly contributes to risk for bipolar disorder by elevating IMPA2 levels in the brain, albeit the genetic effect varies among populations...
  36. ncbi request reprint Distinguishable haplotype blocks in the HTR3A and HTR3B region in the Japanese reveal evidence of association of HTR3B with female major depression
    Kazuo Yamada
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako, Kawaguchi, Saitama, Japan
    Biol Psychiatry 60:192-201. 2006
    ..But the polymorphisms highlighted in these reports map to different locations in the two genes, therefore it is unclear which gene exerts a stronger effect on susceptibility...
  37. pmc Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series
    Eiji Hattori
    Department of Psychiatry, The University of Chicago, IL 60637, USA
    Am J Hum Genet 72:1131-40. 2003
    ..Taken together with the earlier report, this is the first demonstration of a novel gene(s), discovered through a positional approach, independently associated with both bipolar illness and schizophrenia...
  38. pmc Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients
    Tetsushi Sadakata
    Laboratory for Molecular Neurogenesis and Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama, Japan
    J Clin Invest 117:931-43. 2007
    ..Exon 3 was shown to encode the dynactin 1-binding domain and affect axonal CADPS2 protein distribution. Our results suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility...
  39. ncbi request reprint Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders
    Yasue Horiuchi
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
    Biol Psychiatry 55:40-5. 2004
    ..The GABRA1 gene encodes one of the subunits of GABA-A receptor and is located on human chromosome 5q34-q35, which is a region reportedly linked to mood disorders. We examined the GABRA1 gene as a candidate for mood disorders...
  40. ncbi request reprint Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigrees
    Melvin G McInnis
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21287 7463, USA
    Biol Psychiatry 54:1265-73. 2003
    ..The first 97 pedigrees showed evidence of linkage to chromosomes 1, 6, 7, 10, 16, and 22 (Nurnberger et al 1997). An additional 56 bipolar families have been genotyped, and the combined sample of 153 pedigrees studied...
  41. pmc Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder
    Ricardo Segurado
    Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
    Am J Hum Genet 73:49-62. 2003
    ..We note that meta-analysis can sometimes provide support for linkage but cannot disprove linkage in any candidate region...
  42. ncbi request reprint Analysis of a cluster of polymorphisms in AKT1 gene in bipolar pedigrees: a family-based association study
    Tomoko Toyota
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako, 351 0198, Saitama, Japan
    Neurosci Lett 339:5-8. 2003
    ..Seven polymorphic sites were clustered in a small segment spanning exon 14 and downstream intron. Transmission of haplotypes constructed from this cluster showed a weak evidence of association between the AKT1 and bipolar disorder...