Research Topics
Genomes and Genes
| Rita M CantorSummaryAffiliation: University of California Country: USA Publications
| Collaborators
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Detail Information
Publications
Toward localizing genes underlying cerebral asymmetry and mental healthSusan L Smalley
Center for Neurobehavioral Genetics, UCLA Neuropsychiatric Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90024, USA
Am J Med Genet B Neuropsychiatr Genet 135:79-84. 2005..Because ACA is associated with certain aspects of creativity, such risk genes may also be enhancer genes for creativity...
Replication of autism linkage: fine-mapping peak at 17q21Rita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
Am J Hum Genet 76:1050-6. 2005..Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21...- Support for calcium channel gene defects in autism spectrum disordersAke Tzu Hui Lu
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90024 7088, USA
Mol Autism 3:18. 2012..abstract:.. 
Model-based linkage analysis of a binary traitRita M Cantor
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Methods Mol Biol 850:285-300. 2012..We discuss the MLOD program for multipoint linkage analysis, including its relation to LODLINK and the additional file needed. Notes to improve your ability to run the program are included...- Molecular genetics of autismRita M Cantor
Department of Human Genetics, Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
Curr Psychiatry Rep 11:137-42. 2009..As this review indicates, application of these tools paints a portrait of a disorder that is more complex than anticipated... - Quantitative trait loci for apolipoprotein B, cholesterol, and triglycerides in familial combined hyperlipidemia pedigreesRita M Cantor
Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E Young Dr South, Los Angeles, CA 90095 7088, USA
Arterioscler Thromb Vasc Biol 24:1935-41. 2004..This is a report of a quantitative trait loci (QTL) analysis of FCHL... - Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypesRita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 7088, USA
Genet Epidemiol 35:S85-91. 2011..The presumed model of inheritance and choice of genetic entities are likely to have a strong effect on the outcomes of the analyses... - Association testing in a linked region using large pedigreesRita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095 7088, USA
Am J Hum Genet 76:538-42. 2005..For the test results to be valid, good estimates of haplotype frequencies must be used in the analysis... - Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23Rita M Cantor
David Geffen School of Medicine, University of California, Los Angeles, 90095 7088, USA
Arthritis Rheum 50:3203-10. 2004..To identify chromosome regions likely to harbor genes that predispose to the development of systemic lupus erythematosus (SLE) by analyzing a full genome scan in nuclear families ascertained for siblings with SLE... - Prioritizing GWAS results: A review of statistical methods and recommendations for their applicationRita M Cantor
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Am J Hum Genet 86:6-22. 2010..Reviews of published methods with recommendations for their application are provided within the framework for each approach... - Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorderAke T Lu
Department of Human Genetics, University of California, Los Angeles, California, USA
Am J Med Genet B Neuropsychiatr Genet 147:1488-94. 2008..01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders... - Identification of two common variants contributing to serum apolipoprotein B levels in MexicansDaphna Weissglas-Volkov
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, Calif 90095 7088, USA
Arterioscler Thromb Vasc Biol 30:353-9. 2010..This study attempted to determine these genetic factors... - Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16qPaivi Pajukanta
Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 72:903-17. 2003..1 region, we investigated a novel functional and positional candidate gene, helix/forkhead transcription factor (FOXC2), by sequencing and by genotyping of two single-nucleotide polymorphisms in the families... - Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemiaRebecca Mar
Department of Human Genetics, University of California, Los Angeles, USA
Circ Res 94:993-9. 2004.... - Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samplesDaphna Weissglas-Volkov
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
Circ Cardiovasc Genet 3:31-8. 2010.... - Linkage and interaction of loci on 1q23 and 16q12 may contribute to susceptibility to systemic lupus erythematosusBetty P Tsao
Department of Medicine, Rehabilitation Center, Room 32 59, 1000 Veteran Avenue, UCLA School of Medicine, Los Angeles, CA 90095 1670, USA
Arthritis Rheum 46:2928-36. 2002.... - Evidence for sex-specific risk alleles in autism spectrum disorderJennifer L Stone
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
Am J Hum Genet 75:1117-23. 2004..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases... - Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11Matthew N Ogdie
Human Genetics, University of California Los Angeles, Los Angeles, CA, USA
Am J Hum Genet 75:661-8. 2004..The refinement of linkage within each of these regions lays the foundation for subsequent investigations using association methods to detect risk genes of moderate effect size... - Weighted variance FBAT: a powerful method for including covariates in FBAT analysesAke Tzu Hui Lu
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA
Genet Epidemiol 31:327-37. 2007..A SAS program (www.SAS.com) for generating WVF residuals that can be input to the current versions of the FBAT (www.biostat.harvard.edu/fbat/fbat.html) and PBAT (www.biostat.harvard.edu/clange/default.htm) software is provided... - Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosusHui Wu
Division of Rheumatology, University of California Los Angeles, 1000 Veteran Avenue, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 104:3961-6. 2007..Our findings reveal that CR2 is a likely susceptibility gene for human lupus at 1q32.2, extending previous studies suggesting that CR2 participates in the pathogenesis of systemic lupus erythematosus... - Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1)Paivi Pajukanta
Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California 90095 7088, USA
Nat Genet 36:371-6. 2004..USF1 encodes a transcription factor known to regulate several genes of glucose and lipid metabolism... - High density SNP association study of a major autism linkage region on chromosome 17Jennifer L Stone
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 16:704-15. 2007..34-2.29... - Anatomic brain asymmetry in vervet monkeysScott C Fears
Department of Psychiatry and Biobehavioral Sciences, The Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, United States of America
PLoS ONE 6:e28243. 2011..We also found that environmental variables more significantly influence the width of the right compared to the left prefrontal lobe... - Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid diseaseHui Wu
David Geffen School of Medicine, University of California, Los Angeles, 90095, USA
Arthritis Rheum 52:2396-402. 2005..We performed family-based association studies of this polymorphism in 4 independent cohorts containing SLE patients and their parents and/or other family members... - A gene(s) for all-trans-retinoic acid-induced forelimb defects mapped and confirmed to murine chromosome 11Grace S Lee
Molecular Toxicology Interdepartmental Program, UCLA School of Public Health, Los Angeles, California 90095, USA
Genetics 170:345-53. 2005..The human syntenic region of this locus has been previously linked to Meckel syndrome; the phenotype includes postaxial polydactyly, an ectopic digital defect hypothesized to be induced by a common molecular pathway with ectrodactyly... - Genome-wide association study of intelligence: additive effects of novel brain expressed genesSandra K Loo
University of California Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90024, USA
J Am Acad Child Adolesc Psychiatry 51:432-440.e2. 2012..The purpose of the present study was to identify common genetic variants that are associated with human intelligence or general cognitive ability... - Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibilityJian Zhao
Division of Rheumatology, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
PLoS Genet 7:e1002079. 2011.... - Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemiaHooman Allayee
Department of Human Genetics, Gonda Genetics Research Center, University of California, Los Angeles 90095, USA
Circ Res 90:926-31. 2002..This is one of the first loci identified for apoB levels in humans and is the second major locus implicated in the genetic etiology of FCH... - Association of IRF5 polymorphisms with activation of the interferon alpha pathwayOrnella J Rullo
Division of Pediatric Rheumatology, Mattel Children s Hospital UCLA, Los Angeles, CA 90095, USA
Ann Rheum Dis 69:611-7. 2010..To gain understanding of the effect of IRF5 variation in individuals without SLE, a study was undertaken to examine whether such genetic variation predisposes to activation of the interferon alpha (IFNalpha) pathway... - Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemiaRebecca Mar-Heyming
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Arterioscler Thromb Vasc Biol 28:1193-9. 2008..We used the fatty acid desaturation index (the plasma ratio of 18:1/18:0) as a marker of SCD1 activity to investigate the relationship of SCD1 to familial combined hyperlipidemia (FCHL)... - Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcon
UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Am J Hum Genet 82:150-9. 2008..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures... - Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism familiesMaricela Alarcon
Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute, and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
Am J Hum Genet 70:60-71. 2002..The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder... - A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11Matthew N Ogdie
Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA
Am J Hum Genet 72:1268-79. 2003..Interestingly, both regions, as well as 5p13, have been highlighted in genomewide scans for autism... - Association of common variants in the Joubert syndrome gene (AHI1) with autismAna I Alvarez Retuerto
Center for Autism Research and Treatment Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Hum Mol Genet 17:3887-96. 2008..These data suggest a role for AHI1 in common disorders affecting human cognition and behavior... - A susceptibility locus for migraine with aura, on chromosome 4q24Maija Wessman
Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles 90095 7088, USA
Am J Hum Genet 70:652-62. 2002..000011). Multipoint parametric (HLOD = 4.45; P=.0000058) and nonparametric (NPL(all) = 3.43; P=.0007) analyses support linkage in this region. Statistically significant linkage was not observed in any other chromosomal region... - Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish familiesAino Soro
Department of Human Genetics, Gonda Neuroscience and Genetics Research Center, University of California, Los Angeles, CA 90095 7088, USA
Am J Hum Genet 70:1333-40. 2002..11, the latter representing a recently characterized region for type 2 diabetes. Besides these three loci, loci on chromosomes 2p and 3p showed linkage in the families with low HDL-C and a locus on 2ptel in the families with FCHL... - WW-domain-containing oxidoreductase is associated with low plasma HDL-C levelsJenny C Lee
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 83:180-92. 2008..In conclusion, analyses of 9,798 subjects show significant association between HDL-C and a WWOX variant with an allele-specific cis-regulatory function... - Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genesBlake E Haas
Department of Human Genetics, Gonda Center, Los Angeles, California, 90095 7088, USA
BMC Med Genomics 5:61. 2012..Fat is stored in the form of TGs in human adipose tissue. We hypothesized that gene co-expression networks in human adipose tissue may be correlated with serum TG levels and help reveal novel genes involved in TG regulation... - Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkageSarah J Spence
Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, California 90095, USA
Am J Med Genet B Neuropsychiatr Genet 141:591-8. 2006..However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples... - Interactive effects of cadmium and all-trans-retinoic acid on the induction of forelimb ectrodactyly in C57BL/6 miceGrace S Lee
Molecular Toxicology Interdepartmental Program, University of California, Los Angeles School of Public Health, Los Angeles, California 90095, USA
Birth Defects Res A Clin Mol Teratol 76:19-28. 2006..CONCLUSIONS: The findings demonstrate that concurrent exposure to these teratogens can have a synergistic effect and that subteratogenic doses may combine to exceed a threshold... - Identifying heritable brain phenotypes in an extended pedigree of vervet monkeysScott C Fears
Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA
J Neurosci 29:2867-75. 2009.... - A quantitative trait locus analysis of social responsiveness in multiplex autism familiesJacqueline A Duvall
Department of Neurology, University of California, Los Angeles, USA
Am J Psychiatry 164:656-62. 2007..The authors present the first genome-wide scan for a social endophenotype in autism using the Social Responsiveness Scale, which provides a quantitative measure of autistic-like behavior, primarily focused on social relatedness... - Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemiaHooman Allayee
Department of Human Genetics, Gonda Genetics Research Center, of California, Los Angeles, Calif 90095, USA
Circ Res 92:1262-7. 2003..Our results demonstrate that apoA-II is biochemically and genetically associated with FCH and may serve as a useful marker for understanding the mechanism by which FCH develops... - Familiality and co-occurrence of clinical features of systemic lupus erythematosusBetty P Tsao
Division of Rheumatology, Department of Medicine, Rehabilitation Center, Room 32 59, University of California Los Angeles School of Medicine, 1000 Veteran Avenue, Los Angeles, CA 90095 1670, USA
Arthritis Rheum 46:2678-85. 2002..To evaluate familiality of 15 clinical and laboratory features in systemic lupus erythematosus (SLE)-affected sibpairs, and to estimate correlations with the age at SLE diagnosis in affected sibpairs and parent-offspring pairs... - Transcriptomic analysis of autistic brain reveals convergent molecular pathologyIrina Voineagu
Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
Nature 474:380-4. 2011..Collectively, our results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder... - The SLC6A14 gene shows evidence of association with obesityElina Suviolahti
Department of Human Genetics, University of California, Los Angeles, USA
J Clin Invest 112:1762-72. 2003..003). The SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control... - Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groupsKenneth M Kaufman
Correspondence to Dr Kenneth Kaufman, MLC 15012, 3333 Burnet Ave, Cincinnati, Ohio, 45229 USA Professor Betty Tsao, Division of Rheumatology, University of California Los Angeles, Warren Hall Rm 14 224, 900 Veteran Avenue, Los Angeles, California 90095, USA
Ann Rheum Dis 72:437-44. 2013..However, due to the strong linkage disequilibrium between IRAK1 and MECP2, it remains unclear which gene is affected by the underlying causal variant(s) conferring risk of SLE... - Association of GSK3B with Alzheimer disease and frontotemporal dementiaBarbara A J Schaffer
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 2506 Gonda, 695 Charles E Young Dr S, Los Angeles, CA 90095 1761, USA
Arch Neurol 65:1368-74. 2008..As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found... - Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autismSusan L Smalley
Center for Neurobehavioral Genetics and Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles 90024USA
Am J Hum Genet 71:959-63. 2002..These findings suggest that variations in a gene on 16p13 may contribute to common deficits found in both ADHD and autism... - Prediction of serotonin transporter promoter polymorphism genotypes from single nucleotide polymorphism arrays using machine learning methodsAke Tzu Hui Lu
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
Psychiatr Genet 22:182-8. 2012..However, large-scale genotyping of the polymorphism has been very difficult. We report the development and validation of a 5-HTTLPR genotype prediction model... - Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12Nadia Ehtesham
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Research Institute, Los Angeles, CA 90048, USA
Am J Hum Genet 71:947-51. 2002.... - Palmar hyperhidrosis: evidence of genetic transmissionKyung M Ro
University of California at Davis School of Medicine, Los Angeles, USA
J Vasc Surg 35:382-6. 2002..However, this does not exclude other possible causes, and we anticipate that genetic confirmation of this disorder may lead to earlier diagnoses and advances in medical and psychosocial interventions... - A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related speciesNelson B Freimer
Center for Neurobehavioral Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 104:15811-6. 2007.... - Familial aggregation of hyperemesis gravidarumYafeng Zhang
Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, CA 90095, USA
Am J Obstet Gynecol 204:230.e1-7. 2011..This study was undertaken to determine whether there is familial aggregation of hyperemesis gravidarum (HG), making it a disease amenable to genetic study... - Schizophrenia: genome, interruptedRita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Neuron 58:165-7. 2008..A current paper makes a significant advance to schizophrenia genetics by establishing an association with rare copy number variants (CNV), which are over-represented in neurodevelopmental genes... - Ulcerative dermatitis in C57BL/6 mice exhibits an oxidative stress response consistent with normal wound healingLisa K Williams
Division of Laboratory Animal Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
Comp Med 62:166-71. 2012..No evidence indicated that UD wounds have a defect in the oxidative stress response. Our findings are consistent with an understanding of C57BL/6 UD lesions as typical rather than atypical wounds... - A non-human primate system for large-scale genetic studies of complex traitsAnna J Jasinska
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 21:3307-16. 2012..The imminent whole genome sequencing of many of these vervet samples will enhance the power of such investigations by providing a comprehensive catalog of genetic variation... - Identification of common variants associated with human hippocampal and intracranial volumesJason L Stein
Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA
Nat Genet 44:552-61. 2012..3; N = 15,782; P = 1.12 × 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10(-7))... - Co-regulation and multilocus determinants of gene expression in humansBerit Kerner
Center for Neurobehavioral Genetics, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, 695 Charles E, Young Drive South, Los Angeles, California 90095 1761, USA
BMC Proc 1:S88. 2007..CONCLUSION : The complex nature of gene regulation can be explored by linkage analysis with single-nucleotide polymorphisms followed by multivariate methods to explore co-regulation... - Mitochondrial dysfunction, oxidative stress, and apoptosis revealed by proteomic and transcriptomic analyses of the striata in two mouse models of Parkinson's diseaseMark H Chin
Department of Molecular and Medical Pharmacology, Human Genetics, Laboratory of Neuroimaging, Department of Neurology, and Surgery, David Geffen School of Medicine at University of California Los Angeles UCLA, Los Angeles, California 90095, USA
J Proteome Res 7:666-77. 2008..These results constitute one of the largest descriptive data sets integrating protein and transcript changes for these neurotoxin models with many similar end point phenotypes but distinct mechanisms... - Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouseLisa J Martin
Department of Environmental Health Sciences, Interdepartmental Program in Molecular Toxicology, UCLA School of Public Health, Los Angeles, California 90095 1772, USA
Birth Defects Res A Clin Mol Teratol 67:231-9. 2003.... - Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1Adriana Huertas-Vazquez
Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas, UNAM, Instituto Nacional de Ciencias Medicas y Nutricion, Salvador Zubiran, Mexico City, Mexico
Arterioscler Thromb Vasc Biol 25:1985-91. 2005..We also analyzed the Mexican FCHL families for 26 microsatellite markers residing in the seven chromosomal regions on 2p25.1, 9p23, 10q11.23, 11q13, 16q24.1, 19q13, and 21q21, previously linked to FCHL in whites... - Heritability and genetic loci of fatty liver in familial combined hyperlipidemiaMartijn C G J Brouwers
Department of Medicine and Cardiovascular Research Institute Maastricht, Academic Hospital Maastricht, Maastricht, The Netherlands
J Lipid Res 47:2799-807. 2006..This study shows that fatty liver is a heritable aspect of FCHL. Replication of particularly the 7p region is awaited... - Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndromeCarolyn Schanen
Nemours Biomedical Research, Alfred I duPont Hospital for Children, Room H3B 337, PO Box 269, Wilmington, DE 19899, USA
Am J Med Genet A 126:129-40. 2004..These results emphasize the limitations of such analyses in larger mutation groups, either by type or position... - Cross-species analyses implicate Lipin 1 involvement in human glucose metabolismElina Suviolahti
Department of Molecular Medicine, National Public Health Institute
Hum Mol Genet 15:377-86. 2006.... - Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesTero Ylisaukko-Oja
Department of Molecular Medicine, National Public Health Institute, University of Helsinki, 00251 Helsinki, Finland
Ann Neurol 59:145-55. 2006.... - Tumor necrosis factor gene polymorphisms and the variable presentation and outcome of community-acquired pneumoniaRichard G Wunderink
Methodist Le Bonheur Healthcare Foundation, University of Tennessee, Memphis, TN, USA
Chest 121:87S. 2002 - 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... - A genomewide screen of 345 families for autism-susceptibility lociAmanda L Yonan
Department of Genetics and Development and Columbia Genome Center, Columbia University, New York, NY 10032, USA
Am J Hum Genet 73:886-97. 2003.... - Genetic influences contributing to LDL particle size in familial combined hyperlipidaemiaJuha Vakkilainen
Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland
Eur J Hum Genet 10:547-52. 2002..Our results suggest a polygenic background for LDL size with a recessive major gene that may contribute to large LDL peak particle size in women. Serum TG and HDL-C concentrations predict the majority of variations in LDL particle size... - The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-AmericansLuciana Ribeiro
Department of Psychiatry and Behavioral Sciences, Center on Pharmacogenomics, University of Miami Miller School of Medicine, Miami, Florida 33136 1013, USA
Neuroreport 18:1291-3. 2007..7 95% CI 1.17-2.47). Our findings support the association of BDNF single nucleotide polymorphism rs6265 and depression, suggesting that this polymorphism may increase susceptibility to major depression in Mexican-Americans... - Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish populationEva Forsman
Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland
Acta Ophthalmol Scand 85:500-7. 2007.... - Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in TaiwanYi Wen Lin
Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan
Hum Mutat 28:486-94. 2007.... - Longitudinal differences in familial combined hyperlipidemia quantitative trait lociMartijn C G J Brouwers
Arterioscler Thromb Vasc Biol 26:e118-9. 2006 - Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment responseMa Li Wong
Center on Pharmacogenomics, Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
Proc Natl Acad Sci U S A 103:15124-9. 2006..This study identifies a potential CNS role for the PDE11 family. The hypothesis that drugs affecting PDE function, particularly cGMP-related PDEs, represent a treatment strategy for major depression should therefore be tested... - Offering to share: how to put heads together in autism neuroimagingMatthew K Belmonte
Department of Human Development, Cornell University, Martha Van Rensselaer Hall, Ithaca, NY 14853 4401, USA
J Autism Dev Disord 38:2-13. 2008..A theme in these requirements is the need to preserve creative approaches and risk-taking within individual laboratories at the same time as common standards are provided for these laboratories to build on... - Intracellular adhesion molecule Gly241Arg polymorphism has no impact on ARDS or septic shock in community-acquired pneumoniaMichael W Quasney
Department of Pediatrics, Crippled Children's Foundation Research Center, University of Tennessee, Memphis, 38103, USA
Chest 121:85S-86S. 2002