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Genomes and Genes | R J BuonoSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPaseR J Buono
Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet 96:79-83. 2000..Further study of this polymorphism is warranted as it may be involved in other disease processes for which there are known ethnic-specific susceptibilities. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:79-83, 2000...- Lack of association between an interleukin 1 beta (IL-1beta) gene variation and refractory temporal lobe epilepsyR J Buono
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, 415 Curie Blvd, Philadelphia, PA 19104 6140, U S A
Epilepsia 42:782-4. 2001..that demonstrated a positive association (p < 0.017) between a polymorphism in the promoter region of the interleukin 1-beta (IL-1beta) gene and the clinical phenotype of temporal lobe epilepsy with hippocampal sclerosis (TLE+HS)... - Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibilityR J Buono
Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine, 415 Curie Boulevard, CRB 120, Philadelphia, PA 19104 6140, USA
Epilepsy Res 58:175-83. 2004..The purpose of this work was to translate these animal model data to a human genetic association study... - Genotyping microsatellite polymorphisms by agarose gel electrophoresis with ethidium bromide staining: application to quantitative trait loci analysis of seizure susceptibility in miceT N Ferraro
Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, Philadelphia 19104, USA
Psychiatr Genet 8:227-33. 1998..Overall, these results demonstrate that AGE/EBS can be useful for rapid screening of genomic regions of special interest in QTL mapping studies... - Mapping loci for pentylenetetrazol-induced seizure susceptibility in miceT N Ferraro
Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
J Neurosci 19:6733-9. 1999.... 
Confirmation of multiple seizure susceptibility QTLs on chromosome 15 in C57BL/6J and DBA/2J inbred miceT N Ferraro
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104 3403, USA
Physiol Genomics 42:1-7. 2010..It harbors 83 genes in highly polymorphic areas, 310 genes in all. Complete dissection of these loci will lead to identification of genetic variants that influence SZS in mice and provide a better understanding of seizure biology...
Quantitative trait loci for electrical seizure threshold mapped in C57BLKS/J and C57BL/10SnJ miceT N Ferraro
Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104 3403, USA
Genes Brain Behav 10:309-15. 2011....- Quantitative genetic study of maximal electroshock seizure threshold in mice: evidence for a major seizure susceptibility locus on distal chromosome 1T N Ferraro
Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Genomics 75:35-42. 2001..These results support the hypothesis that the distal portion of chromosome 1 harbors a gene(s) that has a fundamental role in regulating seizure susceptibility... - Human G(olf) gene polymorphisms and vulnerability to bipolar disorderW H Berrettini
Department of Psychiatry, University of Pennsylvania, Philadelphia 19104, USA
Psychiatr Genet 8:235-8. 1998.... - Defining the clinical role of pharmacogenetics in antiepileptic drug therapyD J Dlugos
Divison of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-3403, USA
Pharmacogenomics J 6:357-9. 2006 - Identification and functional significance of polymorphisms in the mu-opioid receptor gene (Oprm) promoter of C57BL/6 and DBA/2 miceGlenn A Doyle
The Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, United States
Neurosci Res 55:244-54. 2006..No significant differences in construct activity were found between untreated and morphine-treated BE(2)-C or Neuro-2a cells, suggesting that morphine does not regulate transcription of Oprm... - Identification of three mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exonGlenn A Doyle
The Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States
Gene 388:135-47. 2007..In summary, we have identified three brain expressed, alternatively spliced mouse MOR splice variants containing a novel exon and encoding new putative MOR isoforms, MOR-1V and MOR-1W... - Role of genetics in the diagnosis and treatment of epilepsyThomas N Ferraro
University of Pennsylvania, Department of Psychiatry, 125 S 31 Street, Room 2209 TRL, Philadelphia, PA 19104 3403, USA
Expert Rev Neurother 6:1789-800. 2006..Further elucidation of the relationship between gene mutations and channel function will add value to genetic testing in the future, as will better characterization of the association between gene mutations and clinical phenotypes... - Identification of five mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exonGlenn A Doyle
The Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States
Gene 395:98-107. 2007..These exon 19-containing splice variants add to the growing complexity of the mouse Oprm1 gene... - Analysis of a quantitative trait locus for seizure susceptibility in mice using bacterial artificial chromosome-mediated gene transferThomas N Ferraro
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104 3404, USA
Epilepsia 48:1667-77. 2007.... - Quantitative trait locus for seizure susceptibility on mouse chromosome 5 confirmed with reciprocal congenic strainsThomas N Ferraro
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104 3404, USA
Physiol Genomics 31:458-62. 2007.... - Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596)Dennis J Dlugos
Department of Neurology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Pediatr Neurol 37:303-5. 2007..In this case, the wild type of residue (R1596) is well-conserved across evolution from bacteria to humans, providing support for the hypothesis that this mutation causes epilepsy... - Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophreniaFalk W Lohoff
Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
Neuropsychobiology 57:55-60. 2008..Further studies are necessary to confirm this effect, and to elucidate the role of VMAT1 in central nervous system physiology and possible involvement in the genetic origins of SZ... - Genetic variants in the cocaine- and amphetamine-regulated transcript gene (CARTPT) and cocaine dependenceFalk W Lohoff
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Neurosci Lett 440:280-3. 2008.... - Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative geneThomas N Ferraro
Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Mamm Genome 15:239-51. 2004..The critical interval contains several candidate genes, one of which, Kcnj10, exhibits a potentially important polymorphism with regard to fundamental aspects of seizure susceptibility... - Polygenic epilepsyThomas N Ferraro
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Adv Neurol 97:389-98. 2006.... - Challenges and opportunities in the application of pharmacogenetics to antiepileptic drug therapyThomas N Ferraro
University of Pennsylvania, Center for Neurobiology and Behavior, Room 2209, Translational Research Laboratories, and The Children s Hospital of Philadelphia, Department of Pediatrics, Philadelphia, PA 19104, USA
Pharmacogenomics 7:89-103. 2006..Further development of these critical factors will optimize chances for overcoming current challenges posed by AED pharmacogenetic research and ultimately allow the realization of improved, more rational therapeutic strategies... - Mouse strain variation in maximal electroshock seizure thresholdThomas N Ferraro
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, 415 Curie Blvd, Philadelphia, PA 19104 6140, USA
Brain Res 936:82-6. 2002..We conclude that MEST represents a useful tool for dissecting the multifactorial nature of seizure sensitivity in mice... - Predicting outcome of initial treatment with carbamazepine in childhood focal epilepsyDennis J Dlugos
Pediatric Regional Epilepsy Program, Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19014, USA
Pediatr Neurol 30:311-5. 2004..Better markers of antiepileptic response and nonresponse are required to guide optimal therapy in patients with epilepsy... - Confirmation of a major QTL influencing oral morphine intake in C57 and DBA mice using reciprocal congenic strainsThomas N Ferraro
Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, Philadelphia, PA 19104 6140, USA
Neuropsychopharmacology 30:742-6. 2005..B6-Mop2 mice. Overall, these data confirm the existence of a gene(s) on chromosome 10 proximal to D10Mit124 that has a strong influence on the difference in morphine drinking behavior between B6 and D2 mice... - No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsyFalk W Lohoff
Department of Psychiatry, University of Pennsylvania School of Medicine, Center for Neurobiology and Behavior, 3535 Market Street, 2nd Floor, R2070, Philadelphia, PA 19104, USA
Neurosci Lett 382:33-8. 2005..Linkage disequilibrium was demonstrated throughout the gene. Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE... - The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overviewThomas N Ferraro
Departments of Psychiatry and Pharmacology, University of Pennsylvania, Philadelphia, PA 19104, USA
Epilepsy Behav 7:18-36. 2005..Delineation of these effects in the coming years will promote enhanced success in the treatment of epilepsy... - Lack of association between single nucleotide polymorphisms in the corticotropin releasing hormone receptor 1 (CRHR1) gene and alcohol dependenceJohn P Dahl
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Psychiatr Res 39:475-9. 2005..The results of this study suggest that polymorphisms in the CRHR 1 gene are not major risk factors for the development of alcohol dependence in persons of European ancestry... - No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorderFalk W Lohoff
School of Medicine Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Clinical Research Building, Room 135a, 415 Curie Boulevard, Philadelphia, PA 19104 6140, USA
Psychiatry Res 135:171-7. 2005..Our results suggest that common variations in the CHRNA2 gene are unlikely to confer susceptibility to BPD in this sample. Further studies are required to elucidate the susceptibility locus for BPD on chromosome 8p21-22... - Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsyFalk W Lohoff
Department of Psychiatry, Center for Neurobiology and Behaviour, University of Pennsylvania School of Medicine, 3535 Market Street, 2nd Floor, R2070, Philadelphia, PA 19104, USA
Epilepsy Res 66:59-62. 2005..Results suggest that neither of the studied polymorphisms are strong susceptibility factors for TLE in this sample of individuals of European ancestry... - A functional prodynorphin promoter polymorphism and opioid dependenceRiju Ray
Department of Pharmacology, University of Pennsylvania, Philadelphia, 19104, USA
Psychiatr Genet 15:295-8. 2005..We examined this polymorphism for association in our sample of 168 opioid-dependent patients and 122 ethnically and geographically matched controls... - Association analysis of CHMP1.5 genetic variation and bipolar disorderLeilah D McNabb
Department of Pharmacology, University of Pennsylvania, Philadelphia, USA
Psychiatr Genet 15:211-4. 2005..We hypothesized that the linkage in this region might be due to a gene in close physical proximity to G-olf, and we examined variations in the CHMP1.5 gene within intron 5 of G-olf for association with bipolar disorder... - Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsyDennis J Dlugos
Division of Neurology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Epilepsy Behav 6:444-6. 2005..Further analysis of the factors influencing decisions to decline study enrollment is warranted. These data will help in the design of future genetic studies and may increase future participation rates...