Experts and Doctors on gene dosage in United States


Locale: United States
Topic: gene dosage

Top Publications

  1. Monani U, Sendtner M, Coovert D, Parsons D, Andreassi C, Le T, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000;9:333-9 pubmed
    ..These results show that SMA is caused by insufficient SMN production by the SMN2 gene and that increased expression of the SMN2 gene may provide a strategy for treating SMA patients. ..
  2. Raman S, Rathinasabapathi B. beta-alanine N-methyltransferase of Limonium latifolium. cDNA cloning and functional expression of a novel N-methyltransferase implicated in the synthesis of the osmoprotectant beta-alanine betaine. Plant Physiol. 2003;132:1642-51 pubmed
    ..Phylogenetic analyses suggested that beta-Ala NMTase represents a novel family of N-methyltransferases that are evolutionarily related to O-methyltransferases...
  3. Lyons T, Villa N, Regalla L, Kupchak B, Vagstad A, Eide D. Metalloregulation of yeast membrane steroid receptor homologs. Proc Natl Acad Sci U S A. 2004;101:5506-11 pubmed
    ..We propose that the IZH genes affect zinc homeostasis either directly or indirectly by altering sterol metabolism. ..
  4. Ross O, Braithwaite A, Skipper L, Kachergus J, Hulihan M, Middleton F, et al. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol. 2008;63:743-50 pubmed publisher
    ..SNCA genomic duplication results from intraallelic (segmental duplication) or interallelic recombination with unequal crossing over, whereas both mechanisms appear to be required for genomic SNCA triplication. ..
  5. Bekaert M, Conant G. Copy number alterations among mammalian enzymes cluster in the metabolic network. Mol Biol Evol. 2011;28:1111-21 pubmed publisher
    ..Thus, we find an excess of transporter genes in cattle involved in the milk production, secretion, and regulation. These results suggest a potential role for dosage selection in the evolution of mammalian metabolic networks. ..
  6. Sheng G, Demers M, Subburaju S, Benes F. Differences in the circuitry-based association of copy numbers and gene expression between the hippocampi of patients with schizophrenia and the hippocampi of patients with bipolar disorder. Arch Gen Psychiatry. 2012;69:550-61 pubmed publisher
    ..Insertions and deletions of genomic DNA in ?-aminobutyric acid cells at a key locus of the hippocampal circuit are reflected in transcriptional changes in GAD67 regulation that are circuitry-based and diagnosis-specific. ..
  7. Alleman A, Palmer G, McGuire T, McElwain T, Perryman L, Barbet A. Anaplasma marginale major surface protein 3 is encoded by a polymorphic, multigene family. Infect Immun. 1997;65:156-63 pubmed
    ..marginale. These findings may provide a basis for studying antigenic variation of the organism in persistently infected carrier cattle. ..
  8. Badarinarayana V, Chiang Y, Denis C. Functional interaction of CCR4-NOT proteins with TATAA-binding protein (TBP) and its associated factors in yeast. Genetics. 2000;155:1045-54 pubmed
    ..These genetic and physical interactions indicate that one role of the CCR4-NOT proteins is to inhibit functional TBP-DNA interactions, perhaps by interacting with and modulating the function of TFIID. ..
  9. Murray H, Appleman J, Gourse R. Regulation of the Escherichia coli rrnB P2 promoter. J Bacteriol. 2003;185:28-34 pubmed
    ..The rrnB P2 core promoter sequence (-37 to +7) is sufficient to serve as the target for growth rate-dependent regulation. ..

More Information

Publications114 found, 100 shown here

  1. Gavrilina T, McGovern V, Workman E, Crawford T, Gogliotti R, DiDonato C, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008;17:1063-75 pubmed publisher
    ..Furthermore, a small increase of SMN in neurons has a substantial impact on survival of SMA mice while high SMN levels in mature skeletal muscle alone has no impact. ..
  2. Mulligan M, Ponomarev I, Boehm S, Owen J, Levin P, Berman A, et al. Alcohol trait and transcriptional genomic analysis of C57BL/6 substrains. Genes Brain Behav. 2008;7:677-89 pubmed publisher
    ..H2afz, Psen1, Wdfy1 and Clu were also identified as candidate genes that may be involved in influencing alcohol consumption. ..
  3. Brewster R, Weinert F, Garcia H, Song D, Rydenfelt M, Phillips R. The transcription factor titration effect dictates level of gene expression. Cell. 2014;156:1312-1323 pubmed publisher
    ..Finally, we use these experiments to dynamically measure plasmid copy number through the cell cycle. ..
  4. Hajjar A, Ernst R, Yi J, Yam C, Miller S. Expression level of human TLR4 rather than sequence is the key determinant of LPS responsiveness. PLoS ONE. 2017;12:e0186308 pubmed publisher
    ..Using in vitro and in vivo assays we found that the expression level rather than the sequence of TLR4 played a larger role in recognition of LPS, especially hypoacylated LPS. ..
  5. Kvitek D, Will J, Gasch A. Variations in stress sensitivity and genomic expression in diverse S. cerevisiae isolates. PLoS Genet. 2008;4:e1000223 pubmed publisher
    ..These results highlight the value of understanding the genetic basis of phenotypic variation and raise caution about using laboratory strains for comparative genomics. ..
  6. Schmid Kubista K, Tosakulwong N, Wu Y, Ryu E, Hecker L, Baratz K, et al. Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:5070-9 pubmed publisher
    ..Deletion of CFHR3 and CFHR1 protected against the development of AMD at least in part because the deletion tagged a protective haplotype and did not occur on the risk haplotype. ..
  7. Antonacci F, Kidd J, Marques Bonet T, Teague B, Ventura M, Girirajan S, et al. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet. 2010;42:745-50 pubmed publisher
    ..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement. ..
  8. Saunders O, Fortuna A, Harrison J, Cogger C, Whitefield E, Green T. Gaseous nitrogen and bacterial responses to raw and digested dairy manure applications in incubated soil. Environ Sci Technol. 2012;46:11684-92 pubmed publisher
    ..Expression of all genes measured via mRNA levels was affected by N applications to soil. This study provides new information linking genetic markers in denitrifier and nitrifier populations to N(2)O production. ..
  9. Ginsberg M, Rubin R, Falcone T, Ting A, Natowicz M. Brain transcriptional and epigenetic associations with autism. PLoS ONE. 2012;7:e44736 pubmed publisher
    ..This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes. ..
  10. Sanborn J, Salama S, Grifford M, Brennan C, Mikkelsen T, Jhanwar S, et al. Double minute chromosomes in glioblastoma multiforme are revealed by precise reconstruction of oncogenic amplicons. Cancer Res. 2013;73:6036-45 pubmed publisher
  11. Halladay J, Craig E. A heat shock transcription factor with reduced activity suppresses a yeast HSP70 mutant. Mol Cell Biol. 1995;15:4890-7 pubmed
  12. Palmer M, Richman R, Richter L, Kuroda M. Sex-specific regulation of the male-specific lethal-1 dosage compensation gene in Drosophila. Genes Dev. 1994;8:698-706 pubmed
    ..Collectively, these data provide the first evidence for an order of msl gene function and suggest that male-specific expression of MSL-1 plays a key role in the sex specificity of dosage compensation. ..
  13. West R, Milgrom E. DEAD-box RNA helicase Sub2 is required for expression of lacZ fusions in Saccharomyces cerevisiae and is a dosage-dependent suppressor of RLR1 (THO2). Gene. 2002;288:19-27 pubmed
    ..Our results are consistent with a hypothesis where expression of lacZ fusions in yeast preferentially requires a Sub2-mediated mRNP assembly/export pathway linked to transcription via Rlr1. ..
  14. Sharp A, Hansen S, Selzer R, Cheng Z, Regan R, Hurst J, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006;38:1038-42 pubmed
    ..In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions...
  15. Demuth J, Hahn M. The life and death of gene families. Bioessays. 2009;31:29-39 pubmed publisher
  16. Reich J, Papoulas O. Caprin controls follicle stem cell fate in the Drosophila ovary. PLoS ONE. 2012;7:e35365 pubmed publisher
    ..Our findings support the idea that translational regulators may provide a conserved mechanism for oversight of developmentally critical cell cycles such as those in stem cell populations. ..
  17. Gasch A, Hose J, Newton M, Sardi M, Yong M, Wang Z. Further support for aneuploidy tolerance in wild yeast and effects of dosage compensation on gene copy-number evolution. elife. 2016;5:e14409 pubmed publisher
    ..We maintain that aneuploidy is well tolerated in the wild strains of S. cerevisiae that we studied and that the group of genes enriched for those subject to dosage compensation show unique evolutionary signatures. ..
  18. Filippova G, Lindblom A, Meincke L, Klenova E, Neiman P, Collins S, et al. A widely expressed transcription factor with multiple DNA sequence specificity, CTCF, is localized at chromosome segment 16q22.1 within one of the smallest regions of overlap for common deletions in breast and prostate cancers. Genes Chromosomes Cancer. 1998;22:26-36 pubmed
    ..Therefore, taken together with other CTCF properties, localization of CTCF to a narrow cancer-associated chromosome region suggests that CTCF is a novel candidate tumor suppressor gene at 16q22.1. ..
  19. Stolyar S, Franke M, Lidstrom M. Expression of individual copies of Methylococcus capsulatus bath particulate methane monooxygenase genes. J Bacteriol. 2001;183:1810-2 pubmed
    ..The results suggest that the two clusters are functionally redundant but that relative expression alters depending on the copper levels available for growth...
  20. van Geel M, Eichler E, Beck A, Shan Z, Haaf T, van der Maarel S, et al. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. Am J Hum Genet. 2002;70:269-78 pubmed
    ..Our analysis emphasizes the dynamic nature of duplication-mediated genome evolution and the delicate balance between gene acquisition and silencing...
  21. Wild J, Szybalski W. Copy-control tightly regulated expression vectors based on pBAC/oriV. Methods Mol Biol. 2004;267:155-67 pubmed
    ..Copy-control expression vector pETcoco, based on the pT7lacO promoter, is commercially available. ..
  22. Mefford H, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6:e1000962 pubmed publisher
    ..3, or 16p13.11, genomic hotspots previously associated with ID, autism, or schizophrenia. In summary, our findings suggest common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy. ..
  23. O Bleness M, Dickens C, Dumas L, Kehrer Sawatzki H, Wyckoff G, Sikela J. Evolutionary history and genome organization of DUF1220 protein domains. G3 (Bethesda). 2012;2:977-86 pubmed publisher
    ..Both cytogenetic features likely played key roles in the rapid HLS DUF1220 triplet hyperamplification, which is among the most striking genomic changes specific to the human lineage. ..
  24. Szigeti K, Lal D, Li Y, Doody R, Wilhelmsen K, Yan L, et al. Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease. J Alzheimers Dis. 2013;33:517-23 pubmed publisher
    ..The CR1 events are consistent with previous reports. Larger scale studies with deeper genotyping specifically addressing CNV are needed to evaluate the significance of these findings. ..
  25. Chen X, Meyerowitz E. HUA1 and HUA2 are two members of the floral homeotic AGAMOUS pathway. Mol Cell. 1999;3:349-60 pubmed
    ..Molecular analyses suggest that HUA2 (and possibly HUA1) acts to facilitate AG action at the same hierarchical level as AG. ..
  26. Zhang H, Boghigian B, Pfeifer B. Investigating the role of native propionyl-CoA and methylmalonyl-CoA metabolism on heterologous polyketide production in Escherichia coli. Biotechnol Bioeng. 2010;105:567-73 pubmed publisher
    ..Lastly, the effect of the ygfH deletion was tested in batch bioreactor cultures in which 6dEB titers improved from 206 to 527 mg/L. ..
  27. Thomas J, Schaack S, Pritham E. Pervasive horizontal transfer of rolling-circle transposons among animals. Genome Biol Evol. 2010;2:656-64 pubmed publisher
    ..Because Helitrons are known to frequently capture and amplify gene fragments, HT of this unique group of DNA transposons could lead to horizontal gene transfer and incur dramatic shifts in the trajectory of genome evolution. ..
  28. Sun W, Gaykalova D, Ochs M, Mambo E, Arnaoutakis D, Liu Y, et al. Activation of the NOTCH pathway in head and neck cancer. Cancer Res. 2014;74:1091-104 pubmed publisher
    ..Our results imply that therapies that target the NOTCH pathway may be more widely suitable for HNSCC treatment than appreciated currently. ..
  29. Mason D, Fleming R, Goldfarb D. Drosophila melanogaster importin alpha1 and alpha3 can replace importin alpha2 during spermatogenesis but not oogenesis. Genetics. 2002;161:157-70 pubmed
    ..These rescue experiments suggest that male and female gametogenesis have distinct requirements for importin alpha2. ..
  30. Knoll J, Rogan P. Sequence-based, in situ detection of chromosomal abnormalities at high resolution. Am J Med Genet A. 2003;121A:245-57 pubmed
    ..These novel strategies for rapid and precise characterization of cytogenetic abnormalities are feasible because of the sequence-defined properties and dense euchromatic organization of single copy probes. ..
  31. Araya C, Payen C, Dunham M, Fields S. Whole-genome sequencing of a laboratory-evolved yeast strain. BMC Genomics. 2010;11:88 pubmed publisher
    ..In addition, we show how single-end, short read sequencing data can provide detailed information about structural rearrangements, and generate predictions about the genomic features and processes that underlie genome plasticity. ..
  32. Jhiang S, Sagartz J, Tong Q, Parker Thornburg J, Capen C, Cho J, et al. Targeted expression of the ret/PTC1 oncogene induces papillary thyroid carcinomas. Endocrinology. 1996;137:375-8 pubmed
    ..Our findings indicate that ret/PTC2 is not only a biomarker associated with papillary thyroid carcinomas, but is also the only proven specific genetic event leading to the development of papillary thyroid carcinoma. ..
  33. Yan W, Lewin A, Hauswirth W. Selective degradation of nonsense beta-phosphodiesterase mRNA in the heterozygous rd mouse. Invest Ophthalmol Vis Sci. 1998;39:2529-36 pubmed
    ..This allele-specific degradation serves to decrease mutant transcript levels dramatically in all rd strains, and suggests that photoreceptor cells have the capacity to reduce the level of an mRNA containing a nonsense mutation. ..
  34. Mutti N, Louis J, Pappan L, Pappan K, Begum K, Chen M, et al. A protein from the salivary glands of the pea aphid, Acyrthosiphon pisum, is essential in feeding on a host plant. Proc Natl Acad Sci U S A. 2008;105:9965-9 pubmed publisher
    ..Thus, we infer that Protein C002 is crucial in the feeding of the pea aphid on fava bean. ..
  35. Zhou X, Ma H. Evolutionary history of histone demethylase families: distinct evolutionary patterns suggest functional divergence. BMC Evol Biol. 2008;8:294 pubmed publisher
    ..Finally, we proposed that the observed differences in evolutionary pattern imply functional divergence between animal and plant histone demethylases. ..
  36. Baucom R, Estill J, Chaparro C, Upshaw N, Jogi A, Deragon J, et al. Exceptional diversity, non-random distribution, and rapid evolution of retroelements in the B73 maize genome. PLoS Genet. 2009;5:e1000732 pubmed publisher
    ..These results indicate that the maize genome provides a great number of different niches for the survival and procreation of a great variety of retroelements that have evolved to differentially occupy and exploit this genomic diversity. ..
  37. Gentry B, Ferreira J, Phillips C, Brown M. Hindlimb skeletal muscle function in myostatin-deficient mice. Muscle Nerve. 2011;43:49-57 pubmed publisher
    ..Visible pathology in male mice and decreased contractile strength relative to increased muscle weight suggest MSTN loss results in muscle impairment, which is dose-, sex-, and muscle-dependent. ..
  38. Pontvianne F, Blevins T, Chandrasekhara C, Feng W, Stroud H, Jacobsen S, et al. Histone methyltransferases regulating rRNA gene dose and dosage control in Arabidopsis. Genes Dev. 2012;26:945-57 pubmed publisher
    ..Collectively, our results indicate that histone methylation can affect both the doses of different variants and their differential silencing through the choice mechanisms that achieve dosage control. ..
  39. Makowsky R, Wiener H, Ptacek T, Silva M, Shendre A, Edberg J, et al. Fc?R gene copy number in Kawasaki disease and intravenous immunoglobulin treatment response. Pharmacogenet Genomics. 2013;23:455-62 pubmed publisher
    ..GCN of Fc?R2C and Fc?R3B influences IVIG treatment response and predisposes individuals to KD, providing potential insights into understanding the mechanism of the Fc?R gene family in the IVIG pathway. ..
  40. Sun J, Molitor J, Tower J. Effects of simultaneous over-expression of Cu/ZnSOD and MnSOD on Drosophila melanogaster life span. Mech Ageing Dev. 2004;125:341-9 pubmed
    ..When the reduced efficiency of enzyme over-expression per transgene was taken into account, simultaneous over-expression of MnSOD and Cu/ZnSOD was found to have partially additive effects on life span. ..
  41. Lorenzen M, Gnirke A, Margolis J, Garnes J, Campbell M, Stuart J, et al. The maternal-effect, selfish genetic element Medea is associated with a composite Tc1 transposon. Proc Natl Acad Sci U S A. 2008;105:10085-9 pubmed publisher
    ..The Medea system in Tribolium represents an unusual type of intragenomic conflict and could provide a useful vehicle for driving desirable genes into populations...
  42. Xu J, McEachern M. Maintenance of very long telomeres by recombination in the Kluyveromyces lactis stn1-M1 mutant involves extreme telomeric turnover, telomeric circles, and concerted telomeric amplification. Mol Cell Biol. 2012;32:2992-3008 pubmed publisher
    ..Our results suggest that the maintenance of telomeres in the stn1-M1 mutant involves extreme turnover of telomeric sequences from processes including both large deletions and the copying of t-circles. ..
  43. Campbell K, Gastier Foster J, Mann M, Naranjo A, Van Ryn C, Bagatell R, et al. Association of MYCN copy number with clinical features, tumor biology, and outcomes in neuroblastoma: A report from the Children's Oncology Group. Cancer. 2017;123:4224-4235 pubmed publisher
    ..Patients with MYCN gain appear to have inferior outcomes, especially in otherwise more favorable groups. Cancer 2017;123:4224-4235. © 2017 American Cancer Society. ..
  44. Edgar B, Datar S. Zygotic degradation of two maternal Cdc25 mRNAs terminates Drosophila's early cell cycle program. Genes Dev. 1996;10:1966-77 pubmed
    ..Unlike timing or counting mechanisms, this mechanism can compensate for losses or additions of nuclei by altering the timing and number of the maternal cycles and thus will always generate the correct cell density at the MZT. ..
  45. Baldwin D, Gurley W. Isolation and characterization of cDNAs encoding transcription factor IIB from Arabidopsis and soybean. Plant J. 1996;10:561-8 pubmed
    ..Phylogeny analysis places the plant proteins into one group nearly equidistant from metazoans, fungi, and Archaebacteria...
  46. Parsons D, McAndrew P, Monani U, Mendell J, Burghes A, Prior T. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet. 1996;5:1727-32 pubmed
    ..This mutation provides strong support for SMN as the SMA-determining gene and indicates that disruption of SMNT on its own is sufficient to produce a severe type I SMA phenotype. ..
  47. Sun A, Lambie E. gon-2, a gene required for gonadogenesis in Caenorhabditis elegans. Genetics. 1997;147:1077-89 pubmed
    ..Thus, gon-2 activity is probably not required for the specification of gonadal cell fates, but appears to be generally required for gonadal cell divisions. ..
  48. Sundberg H, Davis T. A mutational analysis identifies three functional regions of the spindle pole component Spc110p in Saccharomyces cerevisiae. Mol Biol Cell. 1997;8:2575-90 pubmed
    ..Our results strongly argue that Spc110p links the gamma-tubulin complex to the central plaque of the SPB. ..
  49. Zhi N, Ohashi N, Rikihisa Y. Multiple p44 genes encoding major outer membrane proteins are expressed in the human granulocytic ehrlichiosis agent. J Biol Chem. 1999;274:17828-36 pubmed
    ..Characterization of p44-homologous genes expressed by the HGE agent in a tissue culture would assist in understanding a role of the p44 multigene family in pathogenesis and immune response in HGE...
  50. Casey G, Neville P, Plummer S, Xiang Y, Krumroy L, Klein E, et al. RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet. 2002;32:581-3 pubmed
    ..Men that are heterozygous with respect to the mutated allele have 50% greater risk of prostate cancer than non-carriers, and homozygotes have more than double the risk. ..
  51. Matsui S, Sait S, Jones C, Nowak N, Gross K. Rapid localization of transgenes in mouse chromosomes with a combined Spectral Karyotyping/FISH technique. Mamm Genome. 2002;13:680-5 pubmed
    ..As such, this protocol has obvious advantages over traditional backcross methods in terms of time, cost and labor for determining the chromosomal location of transgenes. ..
  52. Peak N, Knapp C, Yang R, Hanfelt M, Smith M, Aga D, et al. Abundance of six tetracycline resistance genes in wastewater lagoons at cattle feedlots with different antibiotic use strategies. Environ Microbiol. 2007;9:143-51 pubmed
    ..Results show that antibiotic use strategy strongly affects both the abundance and seasonal distribution of resistance genes in associated lagoons, which has implications on water quality and feedlot management practices. ..
  53. Gilbert J, Goetz M, Reynolds C, Ingle J, Giordano K, Suman V, et al. Molecular analysis of metaplastic breast carcinoma: high EGFR copy number via aneusomy. Mol Cancer Ther. 2008;7:944-51 pubmed publisher
  54. Zheng Y, McFarland B, Drygin D, Yu H, Bellis S, Kim H, et al. Targeting protein kinase CK2 suppresses prosurvival signaling pathways and growth of glioblastoma. Clin Cancer Res. 2013;19:6484-94 pubmed publisher
    ..In vivo, CX-4945 inhibits activation of STAT-3, NF-?B p65, and AKT, and promotes survival of mice with intracranial human glioblastoma xenografts. CK2 inhibitors may be considered for treatment of patients with glioblastoma. ..
  55. Kelly M, Rubinstein M, Phillips T, Lessov C, Burkhart Kasch S, Zhang G, et al. Locomotor activity in D2 dopamine receptor-deficient mice is determined by gene dosage, genetic background, and developmental adaptations. J Neurosci. 1998;18:3470-9 pubmed
    ..We conclude that D2R-deficient mice are not a model of Parkinson's disease. Our studies highlight the interaction of multiple genetic factors in the analysis of complex behaviors in gene knock-out mice. ..
  56. Chung E, Yang Y, Rupert K, Jones K, Rennebohm R, Blanchong C, et al. Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins. Am J Hum Genet. 2002;71:810-22 pubmed
    ..Applications of these vigorously tested techniques may clarify the roles that human C4A and C4B gene-dosage variations play in infectious and autoimmune diseases. ..
  57. Kaneko S, Gerasimova T, Smith S, Lloyd K, Suzumori K, Young S. CA125 and UQCRFS1 FISH studies of ovarian carcinoma. Gynecol Oncol. 2003;90:29-36 pubmed
    ..Unexpectedly, the UQCRFS1 region was also sometimes amplified as HSRs. The UQCRFS1 protein is also known as complex III of the mitochondrial respiratory chain. This product may have an important role in malignant cells. ..
  58. Yang Y, Chung E, Zhou B, Blanchong C, Yu C, Fust G, et al. Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index. J Immunol. 2003;171:2734-45 pubmed
    ..Thus, the polygenic and gene size variations of C4A and C4B contribute to the quantitative traits of C4 with a wide range of serum protein levels and hemolytic activities, and consequently the power of the innate defense system. ..
  59. Somers D, Kim W, Geng R. The F-box protein ZEITLUPE confers dosage-dependent control on the circadian clock, photomorphogenesis, and flowering time. Plant Cell. 2004;16:769-82 pubmed
    ..We also demonstrate that ZTL-dependent delay of flowering is mediated through decreases in CONSTANS and FLOWERING LOCUS T message levels, thus directly linking proteasome-dependent proteolysis to flowering. ..
  60. Goldman D, Hackenmiller R, Nakayama T, Sopory S, Wong C, Kulessa H, et al. Mutation of an upstream cleavage site in the BMP4 prodomain leads to tissue-specific loss of activity. Development. 2006;133:1933-42 pubmed
    ..In addition, these studies provide the first genetic evidence that BMP4 is required for dorsal vertebral fusion and closure of the ventral body wall. ..
  61. Rossetti S, Kubly V, Consugar M, Hopp K, Roy S, Horsley S, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009;75:848-55 pubmed publisher
    ..Our study indicates that the dosage of functional PKD1 protein may be critical for cyst initiation. ..
  62. Elleder D, Kim O, Padhi A, Bankert J, Simeonov I, Schuster S, et al. Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome. J Virol. 2012;86:2787-96 pubmed publisher
    ..The discovery of a novel transcriptionally active and insertionally polymorphic retrovirus in mammals could provide a useful model system to study the dynamic interaction between the host genome and an invading retrovirus...
  63. Cook D, Lee T, Guo X, Melito S, Wang K, Bayless A, et al. Copy number variation of multiple genes at Rhg1 mediates nematode resistance in soybean. Science. 2012;338:1206-9 pubmed publisher
    ..Hence, SCN resistance mediated by the soybean quantitative trait locus Rhg1 is conferred by copy number variation that increases the expression of a set of dissimilar genes in a repeated multigene segment...
  64. Gill T, Webb B. Analysis of gene transcription and relative abundance of the cys-motif gene family from Campoletis sonorensis ichnovirus (CsIV) and further characterization of the most abundant cys-motif protein, WHv1.6. Insect Mol Biol. 2013;22:341-53 pubmed publisher
    ..In addition, WHv1.6 plays a major role in inhibiting the cellular encapsulation response by H.?virescens. ..
  65. Nuttle X, HUDDLESTON J, O Roak B, Antonacci F, Fichera M, Romano C, et al. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods. 2013;10:903-9 pubmed publisher
  66. Zhao C, Nabity P. Phylloxerids share ancestral carotenoid biosynthesis genes of fungal origin with aphids and adelgids. PLoS ONE. 2017;12:e0185484 pubmed publisher
    ..These results suggest that the phylloxerid lifestyle undergoes reduced selection pressure to expand carotenoid synthesis genes, and provides insight into these gene functions in insects...
  67. Kim K, Fisher D, Gao M, Guiltinan M. Genomic organization and promoter activity of the maize starch branching enzyme I gene. Gene. 1998;216:233-43 pubmed
    ..1998 Elsevier Science B.V. ..
  68. Bengten E, Quiniou S, Hikima J, Waldbieser G, Warr G, Miller N, et al. Structure of the catfish IGH locus: analysis of the region including the single functional IGHM gene. Immunogenetics. 2006;58:831-44 pubmed
    ..4-kb block of VH genes has occurred. These observations suggest that the IGH locus of teleost fish varies significantly from species to species in the diversity of C-region genes as well as the numbers of genes encoding V regions...
  69. Wu Y, Savelli S, Yang Y, Zhou B, Rovin B, Birmingham D, et al. Sensitive and specific real-time polymerase chain reaction assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short, and RCCX modules: elucidation of C4 CNVs in 50 consanguineous subjects with defin. J Immunol. 2007;179:3012-25 pubmed
    ..These C4 qPCR assays are proven to be robust, sensitive, and reliable, as they have contributed to the elucidation of C4 CNVs in >1000 human samples with autoimmune and neurological diseases. ..
  70. Tzeng C, Frolov A, Frolova N, Jhala N, Howard J, Vickers S, et al. EGFR genomic gain and aberrant pathway signaling in pancreatic cancer patients. J Surg Res. 2007;143:20-6 pubmed
    ..Increased EGFR gene copy number and elevated EGF levels are present in a significant proportion of pancreatic cancer patients, and this may reflect increased EGFR pathway dependence with improved sensitivity to EGFR-targeted therapy. ..
  71. Zhao Y, Marotta M, Eichler E, Eng C, Tanaka H. Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. PLoS Genet. 2009;5:e1000472 pubmed publisher
    ..These results show a complex genomic organization and unexpected biological functions of CNVs within segmental duplications and emphasize the importance of detailed structural characterization for disease association studies. ..
  72. Akada H, Yan D, Zou H, Fiering S, Hutchison R, Mohi M. Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. Blood. 2010;115:3589-97 pubmed publisher
    ..Our conditional Jak2V617F knock-in mice provide an excellent model that can be used to further understand the molecular pathogenesis of MPNs and to identify additional genetic events that cooperate with Jak2V617F in different MPNs. ..
  73. Bartels C, Scacheri C, White L, Scacheri P, Bale S. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers. 2010;14:881-91 pubmed publisher
    ..This cohort represents the largest CHARGE syndrome sample size to date and is intended to serve as a resource for clinicians, genetic counselors, researchers, and other diagnostic laboratories. ..
  74. Mao J, Whitworth K, Spate L, Walters E, Zhao J, Prather R. Regulation of oocyte mitochondrial DNA copy number by follicular fluid, EGF, and neuregulin 1 during in vitro maturation affects embryo development in pigs. Theriogenology. 2012;78:887-97 pubmed publisher
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