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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 10 of 18

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The impact of sex on gene expression across human tissues.
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM, GTEx Consortium, Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE
(2020) Science 369:
MeSH Terms: Chromosomes, Human, X, Disease, Epigenesis, Genetic, Female, Gene Expression, Gene Expression Regulation, Genetic Variation, Genome-Wide Association Study, Humans, Male, Organ Specificity, Promoter Regions, Genetic, Quantitative Trait Loci, Sex Characteristics, Sex Factors
Added September 15, 2020
0 Communities
1 Members
0 Resources
15 MeSH Terms
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG
(2017) Nature 550: 244-248
MeSH Terms: Chromosomes, Human, X, Female, Genes, X-Linked, Genome, Human, Genomics, Humans, Male, Organ Specificity, Phenotype, Sequence Analysis, RNA, Single-Cell Analysis, Transcriptome, X Chromosome Inactivation
Added October 27, 2017
0 Communities
1 Members
0 Resources
13 MeSH Terms
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ
(2013) Neuron 77: 235-42
MeSH Terms: Case-Control Studies, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, X, Demography, Female, Gene Deletion, Genetic Variation, Homozygote, Humans, Linkage Disequilibrium, Loss of Heterozygosity, Male, Risk Factors
Added February 20, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL
(2012) Proc Natl Acad Sci U S A 109: 7974-81
MeSH Terms: Autistic Disorder, Carnitine, Chromosomes, Human, X, Cognition, Exons, Gene Deletion, Genes, X-Linked, Humans, Male, Metabolism, Inborn Errors, Mixed Function Oxygenases, Penetrance, Risk Factors, Siblings
Added February 20, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
Genomic landscape of human allele-specific DNA methylation.
Fang F, Hodges E, Molaro A, Dean M, Hannon GJ, Smith AD
(2012) Proc Natl Acad Sci U S A 109: 7332-7
MeSH Terms: Algorithms, Alleles, Chromosomes, Human, X, Cluster Analysis, CpG Islands, DNA Methylation, Embryonic Stem Cells, Female, Genome, Human, Genomic Imprinting, Humans, Induced Pluripotent Stem Cells, Male, Models, Genetic
Added February 15, 2016
0 Communities
1 Members
0 Resources
14 MeSH Terms
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW
(2011) Neuron 70: 863-85
MeSH Terms: Adolescent, Cadherins, Calcium-Binding Proteins, Cell Adhesion Molecules, Neuronal, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 7, Chromosomes, Human, X, DNA Copy Number Variations, Family Health, Female, Gene Duplication, Gene Expression Profiling, Genome-Wide Association Study, Genotype, Humans, Male, Nerve Tissue Proteins, Neural Cell Adhesion Molecules, Oligonucleotide Array Sequence Analysis, Phenotype, Proteins, Siblings, Ubiquitin Thiolesterase, Ubiquitin-Specific Peptidase 7, Williams Syndrome
Added February 20, 2014
0 Communities
1 Members
0 Resources
28 MeSH Terms
Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity.
Gamazon ER, Im HK, O'Donnell PH, Ziliak D, Stark AL, Cox NJ, Dolan ME, Huang RS
(2011) Mol Cancer Ther 10: 472-80
MeSH Terms: Carboplatin, Cell Line, Tumor, Chromosomes, Human, X, Cisplatin, Drug Resistance, Neoplasm, Gene Expression, Genes, X-Linked, Genome-Wide Association Study, Humans
Added February 22, 2016
0 Communities
2 Members
0 Resources
9 MeSH Terms
Effect of recipient-derived cells on the progression of familial amyloidotic polyneuropathy after liver transplantation: a retrospective study.
Ohya Y, Jono H, Nakamura M, Hayashida S, Ueda M, Obayashi K, Misumi S, Asonuma K, Ando Y, Inomata Y
(2010) Ann Clin Biochem 47: 529-34
MeSH Terms: Adult, Amyloid Neuropathies, Familial, Amyloidogenic Proteins, Chromosomes, Human, X, Chromosomes, Human, Y, Female, Humans, In Situ Hybridization, Fluorescence, Liver, Liver Transplantation, Male, Middle Aged, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Prealbumin, Retrospective Studies, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Added February 11, 2015
0 Communities
1 Members
0 Resources
17 MeSH Terms
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
Becknell B, Zender GA, Houston R, Baker PB, McBride KL, Luo W, Hains DS, Borza DB, Schwaderer AL
(2011) Kidney Int 79: 120-7
MeSH Terms: Adolescent, Child, Chromosomes, Human, X, Collagen Type IV, Female, Glomerular Basement Membrane, Glomerulonephritis, Heterozygote, Humans, Kidney Failure, Chronic, Male, Mutation, Missense, Pedigree
Added August 21, 2013
0 Communities
1 Members
0 Resources
13 MeSH Terms
Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
Breyer JP, McReynolds KM, Yaspan BL, Bradley KM, Dupont WD, Smith JR
(2009) Cancer Epidemiol Biomarkers Prev 18: 2137-44
MeSH Terms: Age of Onset, Aged, Case-Control Studies, Chromosomes, Human, X, European Continental Ancestry Group, Genetic Predisposition to Disease, Genetic Variation, Humans, Logistic Models, Male, Middle Aged, Pedigree, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Retroviridae Infections, Risk Factors
Added March 20, 2014
0 Communities
2 Members
0 Resources
16 MeSH Terms