Gene Dosage

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  Subject Areas on Research

  • A bayesian analysis strategy for cross-study translation of gene expression biomarkers. 
  • A copy number variation morbidity map of developmental delay. 
  • A gain-of-function polymorphism controlling complex traits and fitness in nature. 
  • A genome-wide investigation of SNPs and CNVs in schizophrenia. 
  • A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. 
  • A genomic view of eukaryotic DNA replication. 
  • A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. 
  • A meta-analysis of CYP2D6 metabolizer phenotype and metoprolol pharmacokinetics. 
  • A pathway-based classification of human breast cancer. 
  • A somatic TSHR mutation in a patient with lung adenocarcinoma with bronchioloalveolar carcinoma, coronary artery disease and severe chronic obstructive pulmonary disease. 
  • A statistical framework for determination of minimal plasmid copy number required for transgene expression in mammalian cells. 
  • APOE genotype-specific differences in the innate immune response. 
  • ATR functions as a gene dosage-dependent tumor suppressor on a mismatch repair-deficient background. 
  • Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma. 
  • Acquired genomic copy number aberrations and survival in adult acute myelogenous leukemia. 
  • Alterations of LKB1 and KRAS and risk of brain metastasis: comprehensive characterization by mutation analysis, copy number, and gene expression in non-small-cell lung carcinoma. 
  • Alterations of a Cellular Cholesterol Metabolism Network Are a Molecular Feature of Obesity-Related Type 2 Diabetes and Cardiovascular Disease. 
  • An FGF autocrine loop initiated in second heart field mesoderm regulates morphogenesis at the arterial pole of the heart. 
  • An integrated genomic analysis of human glioblastoma multiforme. 
  • An integrated molecular profile of endometrioid ovarian cancer. 
  • An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia. 
  • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 
  • Array comparative genomic hybridisation (aCGH) analysis of premenopausal breast cancers from a nuclear fallout area and matched cases from Western New York. 
  • Association between APOE epsilon4 allele and vascular dementia: The Cache County study. 
  • Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth. 
  • Association test for X-linked QTL in family-based designs. 
  • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 
  • BET bromodomain inhibition of MYC-amplified medulloblastoma. 
  • Bayesian consensus clustering. 
  • Biological responses to TGF-β in the mammary epithelium show a complex dependency on Smad3 gene dosage with important implications for tumor progression. 
  • CCL3L1 and HIV/AIDS susceptibility. 
  • CDK8 is a colorectal cancer oncogene that regulates beta-catenin activity. 
  • Carbapenemase-Encoding Gene Copy Number Estimator (CCNE): a Tool for Carbapenemase Gene Copy Number Estimation. 
  • Carbon monoxide, skeletal muscle oxidative stress, and mitochondrial biogenesis in humans. 
  • Cell signalling by microRNA165/6 directs gene dose-dependent root cell fate. 
  • Characterization of the rRNA genes of Ehrlichia chaffeensis and Anaplasma phagocytophila. 
  • Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 
  • Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities. 
  • Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. 
  • Comprehensive biomarker and genomic analysis identifies p53 status as the major determinant of response to MDM2 inhibitors in chronic lymphocytic leukemia. 
  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 
  • Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. 
  • Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer. 
  • DNA copy number evolution in Drosophila cell lines. 
  • Developmental control of gene copy number by repression of replication initiation and fork progression. 
  • Differential expression of mitochondrial DNA replication factors in mammalian tissues. 
  • Dissecting the gene dose-effects of the APOE ε4 and ε2 alleles on hippocampal volumes in aging and Alzheimer's disease. 
  • Dose dependent effects of cardiac beta2 adrenoceptor gene therapy. 
  • Drosophila follicle cell amplicons as models for metazoan DNA replication: a cyclinE mutant exhibits increased replication fork elongation. 
  • E2A and IRF-4/Pip promote chromatin modification and transcription of the immunoglobulin kappa locus in pre-B cells. 
  • Effects of 5'-fluoro-2-deoxyuridine on mitochondrial biology in Caenorhabditis elegans. 
  • Efficacy and pharmacokinetic/pharmacodynamic evaluation of the Aurora kinase A inhibitor MLN8237 against preclinical models of pediatric cancer. 
  • Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner. 
  • Epidermal growth factor receptor expression and gene copy number in conventional hepatocellular carcinoma. 
  • Epidermal growth factor receptor expression and gene copy number in fibrolamellar hepatocellular carcinoma. 
  • Epstein-Barr virus-associated smooth muscle tumors are distinctive mesenchymal tumors reflecting multiple infection events: a clinicopathologic and molecular analysis of 29 tumors from 19 patients. 
  • Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. 
  • Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids. 
  • Feasibility and performance of a novel probe panel to detect somatic DNA copy number alterations in clinical specimens for predicting prostate cancer progression. 
  • Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin. 
  • Functional impact of global rare copy number variation in autism spectrum disorders. 
  • Functions of E2A-HEB heterodimers in T-cell development revealed by a dominant negative mutation of HEB. 
  • Gene copy-number variation in haploid and diploid strains of the yeast Saccharomyces cerevisiae. 
  • Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. 
  • Gene transposition as a cause of hybrid sterility in Drosophila. 
  • Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing. 
  • Genetic diversity in the Mycobacterium tuberculosis complex based on variable numbers of tandem DNA repeats. 
  • Genetic interactions between the RhoA and Stubble-stubbloid loci suggest a role for a type II transmembrane serine protease in intracellular signaling during Drosophila imaginal disc morphogenesis. 
  • Genetic selection for enhanced serine metabolism in cancer development. 
  • Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract. 
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 
  • Genome-wide association for smoking cessation success: participants in a trial with adjunctive denicotinized cigarettes. 
  • Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling. 
  • Genomic Status of MET Potentiates Sensitivity to MET and MEK Inhibition in NF1-Related Malignant Peripheral Nerve Sheath Tumors. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Global search for chromosomal abnormalities in infiltrating ductal carcinoma of the breast using array-comparative genomic hybridization. 
  • HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. 
  • Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. 
  • High resolution analysis of genomic aberrations by metaphase and array comparative genomic hybridization identifies candidate tumour genes in lung cancer cell lines. 
  • High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. 
  • Identification and evolution of an IS6110 low-copy-number Mycobacterium tuberculosis cluster. 
  • Identification of metastasis-associated breast cancer genes using a high-resolution whole genome profiling approach. 
  • Increased androgen receptor gene copy number is associated with TMPRSS2-ERG rearrangement in prostatic small cell carcinoma. 
  • Independent ancient polyploidy events in the sister families Brassicaceae and Cleomaceae. 
  • Integrated genomic analyses of ovarian carcinoma. 
  • Integrated genomic profiling of chronic lymphocytic leukemia identifies subtypes of deletion 13q14. 
  • Integrative genomic approaches to understanding cancer. 
  • Integrative genomics identifies RAB23 as an invasion mediator gene in diffuse-type gastric cancer. 
  • Integrin functions play a key role in the differentiation of thymocytes in vivo. 
  • Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. 
  • Isolation and characterization of effector-loop mutants of CDC42 in yeast. 
  • Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers. 
  • Lic4, a nuclear phosphoprotein that cooperates with calcineurin to regulate cation homeostasis in Saccharomyces cerevisiae. 
  • Long contiguous stretches of homozygosity in the human genome. 
  • Low-copy nuclear sequence data confirm complex patterns of farina evolution in notholaenid ferns (Pteridaceae) 
  • Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. 
  • Mapping and characterization of structural variation in 17,795 human genomes. 
  • Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH. 
  • Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. 
  • Molecular analysis of gastric cancer identifies subtypes associated with distinct clinical outcomes. 
  • Molecular characterization of the pediatric preclinical testing panel. 
  • Molecular evolutionary characterization of a V1R subfamily unique to strepsirrhine primates. 
  • Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. 
  • NF1 inactivation in adult acute myelogenous leukemia. 
  • Normal spastin gene dosage is specifically required for axon regeneration. 
  • Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 
  • OTX2 is critical for the maintenance and progression of Shh-independent medulloblastomas. 
  • PCR based determination of mitochondrial DNA copy number in multiple species. 
  • PCR-Based Determination of Mitochondrial DNA Copy Number in Multiple Species. 
  • Pan-cancer transcriptomic analysis associates long non-coding RNAs with key mutational driver events. 
  • Parallel evolution at multiple levels in the origin of hummingbird pollinated flowers in Ipomoea. 
  • Pathway discovery in mantle cell lymphoma by integrated analysis of high-resolution gene expression and copy number profiling. 
  • Physiological impact of increased expression of the AT1 angiotensin receptor. 
  • Ploidy variation in multinucleate cells changes under stress. 
  • Polyclonal long-term MFGS-gp91phox marking in rhesus macaques after nonmyeloablative transplantation with transduced autologous peripheral blood progenitor cells. 
  • Prediction of clinical outcome in multiple lung cancer cohorts by integrative genomics: implications for chemotherapy selection. 
  • Pronounced thrombocytosis in transgenic mice expressing reduced levels of Mpl in platelets and terminally differentiated megakaryocytes. 
  • Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. 
  • Regulation of E2A gene expression in B-lymphocyte development. 
  • Regulation of early lymphocyte development by E2A family proteins. 
  • Rho GDP dissociation inhibitor-mediated disruption of Rho GTPase activity impairs lens fiber cell migration, elongation and survival. 
  • Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics. 
  • Smoking-related genomic signatures in non-small cell lung cancer. 
  • Species-specific endogenous retroviruses shape the transcriptional network of the human tumor suppressor protein p53. 
  • Specific keynote: genome copy number abnormalities in ovarian cancer. 
  • Subtyping sub-Saharan esophageal squamous cell carcinoma by comprehensive molecular analysis. 
  • Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression. 
  • The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency. 
  • The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. 
  • The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number. 
  • The effects of molecular noise and size control on variability in the budding yeast cell cycle. 
  • The evolutionary history of ferns inferred from 25 low‐copy nuclear genes 
  • The expanding implications of polyploidy. 
  • The tripartite associations between bacteriophage, Wolbachia, and arthropods. 
  • Transcriptional Timers Regulating Mitosis in Early Drosophila Embryos. 
  • Transcriptome-mining for single-copy nuclear markers in ferns 
  • Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. 
  • Transgene induced co-suppression during vegetative growth in Cryptococcus neoformans. 
  • Tumor-infiltrating lymphocytes in glioblastoma are associated with specific genomic alterations and related to transcriptional class. 
  • Unmasking a role for sex chromosomes in gene silencing. 
  • Validation of DNA methylation biomarkers for diagnosis of acute lymphoblastic leukemia. 
  • Visualization of replication initiation and elongation in Drosophila. 
  • Whole genome genetic-typing in yeast using high-density oligonucleotide arrays. 
  • p21 protects "Super p53" mice from the radiation-induced gastrointestinal syndrome. 
  • μ-Opioid receptor gene A118G polymorphism predicts survival in patients with breast cancer. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Fox, Donald T, Associate Professor of Pharmacology & Cancer Biology, Duke Science & Society
  • Milano, Carmelo Alessio, Joseph W. and Dorothy W. Beard Distinguished Professor of Experimental Surgery, Surgery, Cardiovascular and Thoracic Surgery