Experts and Doctors on gene dosage in United States


Locale: United States
Topic: gene dosage

Top Publications

  1. Stitzinger S, Pellicena Palle A, Albrecht E, Gajewski K, Beckingham K, Salz H. Mutations in the predicted aspartyl tRNA synthetase of Drosophila are lethal and function as dosage-sensitive maternal modifiers of the sex determination gene Sex-lethal. Mol Gen Genet. 1999;261:142-51 pubmed
    ..These data suggest that stable activation of Sex-lethal in the embryo may be particularly sensitive to perturbation of the translational machinery. ..
  2. Blanchong C, Zhou B, Rupert K, Chung E, Jones K, Sotos J, et al. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med. 2000;191:2183-96 pubmed
  3. Kruger R, Konieczny I, Filutowicz M. Monomer/dimer ratios of replication protein modulate the DNA strand-opening in a replication origin. J Mol Biol. 2001;306:945-55 pubmed
    ..Taken together, our data suggest that pi elicits its ability to modulate plasmid copy number at the DNA helix-opening step. ..
  4. Kinoshita Kawada M, Oberdick J, Xi Zhu M. A Purkinje cell specific GoLoco domain protein, L7/Pcp-2, modulates receptor-mediated inhibition of Cav2.1 Ca2+ channels in a dose-dependent manner. Brain Res Mol Brain Res. 2004;132:73-86 pubmed
    ..This provides a framework for designing further experiments to determine how dendritic local fluctuations in L7 protein levels might influence signal processing in Purkinje cells. ..
  5. Sirigireddy K, Ganta R. Multiplex detection of Ehrlichia and Anaplasma species pathogens in peripheral blood by real-time reverse transcriptase-polymerase chain reaction. J Mol Diagn. 2005;7:308-16 pubmed
    ..platys and co-infection with E. canis and A. platys. The multipathogen detection and novel positive control development procedures described here will be valuable in monitoring infections in people, other vertebrates, and ticks. ..
  6. Baudhuin L, Ferber M, Winters J, Steenblock K, Swanson R, French A, et al. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology. 2005;129:846-54 pubmed
    ..Thus, a comprehensive mutation identification strategy that includes the ability to detect large genomic rearrangements is imperative for the clinical genetic identification of Lynch syndrome patients and families. ..
  7. Deka S, Vanover J, Dessus Babus S, Whittimore J, Howett M, Wyrick P, et al. Chlamydia trachomatis enters a viable but non-cultivable (persistent) state within herpes simplex virus type 2 (HSV-2) co-infected host cells. Cell Microbiol. 2006;8:149-62 pubmed
    ..Because chlamydial HSP60-1 has been associated with immunopathology in vivo, these results also suggest that disease severity might be increased in co-infected individuals. ..
  8. Lu J, Dentler W, Lundquist E. FLI-1 Flightless-1 and LET-60 Ras control germ line morphogenesis in C. elegans. BMC Dev Biol. 2008;8:54 pubmed publisher
    ..FLI-1 controls germ line morphogenesis and rachis organization, a process about which little is known at the molecular level. The LET-60 Ras GTPase might act with FLI-1 to control germ line morphogenesis. ..
  9. Heaney J, Lam M, Michelson M, Nadeau J. Loss of the transmembrane but not the soluble kit ligand isoform increases testicular germ cell tumor susceptibility in mice. Cancer Res. 2008;68:5193-7 pubmed publisher

More Information

Publications150 found, 100 shown here

  1. Hobson G, Gibson C, Aragon M, Yuan Z, Davis Williams A, Banser L, et al. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009;149A:1698-705 pubmed publisher
    ..More than 50 additional genes were monosomic in this patient...
  2. Matuszek G, Talebizadeh Z. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet. 2009;10:102 pubmed publisher
    ..AGD provides a genome browser and a web based query client for conveniently selecting features of interest. Access to AGD is freely available at ..
  3. Kawakami T, Strakosh S, Zhen Y, Ungerer M. Different scales of Ty1/copia-like retrotransposon proliferation in the genomes of three diploid hybrid sunflower species. Heredity (Edinb). 2010;104:341-50 pubmed publisher
    ..These findings indicate that the genomic and/or environmental conditions associated with the origins of these sunflower hybrid taxa were conducive to derepression of at least two major groups of transposable elements...
  4. Tsuang D, Millard S, Ely B, Chi P, Wang K, Raskind W, et al. The effect of algorithms on copy number variant detection. PLoS ONE. 2010;5:e14456 pubmed publisher
    ..Both guidelines for the identification of CNVs inferred from high-density arrays and the establishment of a gold standard for validation of CNVs are needed. ..
  5. Wu K, Cui J, Klaassen C. Beneficial role of Nrf2 in regulating NADPH generation and consumption. Toxicol Sci. 2011;123:590-600 pubmed publisher
  6. Skretas G, Makino T, Varadarajan N, Pogson M, Georgiou G. Multi-copy genes that enhance the yield of mammalian G protein-coupled receptors in Escherichia coli. Metab Eng. 2012;14:591-602 pubmed publisher
  7. Zvereff V, Yao S, Ramsey J, Mikhail F, Vijzelaar R, Messiaen L. Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers. 2010;14:505-10 pubmed publisher
    ..Our study demonstrates that dosage analysis will increase the PKHD1 mutation detection rate and should be performed as a complementary assay in patients suspected to have ARPKD in the absence of two clear pathogenic mutations. ..
  8. Maye P, Stover M, Liu Y, Rowe D, Gong S, Lichtler A. A BAC-bacterial recombination method to generate physically linked multiple gene reporter DNA constructs. BMC Biotechnol. 2009;9:20 pubmed publisher
    ..We believe that gene choice, genomic DNA fragment size and the presence of endogenous insulator elements are critical variables. ..
  9. Lohr J, Stojanov P, Carter S, Cruz Gordillo P, Lawrence M, Auclair D, et al. Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy. Cancer Cell. 2014;25:91-101 pubmed publisher
    ..These results emphasize the importance of heterogeneity analysis for treatment decisions. ..
  10. Knouf E, Metzger M, Mitchell P, Arroyo J, Chevillet J, Tewari M, et al. Multiple integrated copies and high-level production of the human retrovirus XMRV (xenotropic murine leukemia virus-related virus) from 22Rv1 prostate carcinoma cells. J Virol. 2009;83:7353-6 pubmed publisher
  11. Chaw R, Zhao Y, Wei J, Ayoub N, Allen R, Atrushi K, et al. Intragenic homogenization and multiple copies of prey-wrapping silk genes in Argiope garden spiders. BMC Evol Biol. 2014;14:31 pubmed publisher
    ..In addition, multiple gene copies may represent the early stages of spidroin diversification. ..
  12. Park H, Hice R, Federici B. Effect of Promoters and Plasmid Copy Number on Cyt1A Synthesis and Crystal Assembly in Bacillus thuringiensis. Curr Microbiol. 2016;72:33-40 pubmed publisher
    ..Similar results were obtained when Cyt1Aa synthesis was evaluated using the same expression constructs in a mutant strain of B. thuringiensis subsp. israelensis that lacks the cyt1Aa gene. ..
  13. Coffman J, Kirchhamer C, Harrington M, Davidson E. SpMyb functions as an intramodular repressor to regulate spatial expression of CyIIIa in sea urchin embryos. Development. 1997;124:4717-27 pubmed
    ..purpuratus member of the myb family of transcription factors. Through interactions within the middle module, SpMyb functions to repress activation of CyIIIa in the oral ectoderm and skeletogenic mesenchyme...
  14. Gass J, Cannon A, Mackenzie I, Boeve B, Baker M, Adamson J, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006;15:2988-3001 pubmed
    ..Neuropathological examination showed FTLD with ubiquitin-positive cytoplasmic and intranuclear inclusions in all PGRN mutation carriers. ..
  15. Sprockett D, Piontkivska H, Blackwood C. Evolutionary analysis of glycosyl hydrolase family 28 (GH28) suggests lineage-specific expansions in necrotrophic fungal pathogens. Gene. 2011;479:29-36 pubmed publisher
    ..GH28 evolution among necrotrophs has likely been driven by a co-evolutionary arms race with plants, whereas the need to avoid plant immune responses has resulted in purifying selection within biotrophic fungi. ..
  16. Thompson A, Zakon H, Kirkpatrick M. Compensatory Drift and the Evolutionary Dynamics of Dosage-Sensitive Duplicate Genes. Genetics. 2016;202:765-74 pubmed publisher
    ..The results indicate that functionally redundant paralogs still may undergo radical functional changes after a prolonged period of compensatory drift. ..
  17. Pal Bhadra M, Bhadra U, Birchler J. Cosuppression of nonhomologous transgenes in Drosophila involves mutually related endogenous sequences. Cell. 1999;99:35-46 pubmed
    ..The silencing interaction is initiated during early development. The silenced transgenes are associated with the Polycomb group complex of chromatin proteins. ..
  18. Canver M, Lessard S, Pinello L, Wu Y, Ilboudo Y, Stern E, et al. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017;49:625-634 pubmed publisher
    ..Together, these data establish a widely applicable high-throughput and high-resolution methodology to identify minimal functional sequences within large disease- and trait-associated regions. ..
  19. Baxter J, Sutton M. Evidence for roles of the Escherichia coli Hda protein beyond regulatory inactivation of DnaA. Mol Microbiol. 2012;85:648-68 pubmed publisher
    ..coli viability despite their RIDA defect. Taken together, these findings suggest that although one or more Hda functions are essential for cell viability, RIDA may be dispensable...
  20. Yang Y, Chung E, Wu Y, Savelli S, Nagaraja H, Zhou B, et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Am. Am J Hum Genet. 2007;80:1037-54 pubmed
    ..This work demonstrates how gene CNV and its related polymorphisms are associated with the susceptibility to a human complex disease. ..
  21. Gavrilin M, Mathes L, Podell M. Methamphetamine enhances cell-associated feline immunodeficiency virus replication in astrocytes. J Neurovirol. 2002;8:240-9 pubmed
    ..Thus, lentiviral infection of the brain in the presence of the psychostimulant METH may result in enhanced astrocyte viral replication, producing a more rapid and increased brain viral load. ..
  22. Cooper G, Zerr T, Kidd J, Eichler E, Nickerson D. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet. 2008;40:1199-203 pubmed publisher
  23. Xiao Z, Zhang S, Cao L, Qiu N, David V, Quarles L. Conditional disruption of Pkd1 in osteoblasts results in osteopenia due to direct impairment of bone formation. J Biol Chem. 2010;285:1177-87 pubmed publisher
    ..The conditional deletion of Pkd1 also resulted in increased adipogenesis in bone marrow and in osteoblast cultures. Thus, PKD1 directly functions in osteoblasts to regulate bone formation. ..
  24. Belknap J, Mogil J, Helms M, Richards S, O Toole L, Bergeson S, et al. Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci. 1995;57:PL117-24 pubmed
  25. Macrander J, Broe M, Daly M. Multi-copy venom genes hidden in de novo transcriptome assemblies, a cautionary tale with the snakelocks sea anemone Anemonia sulcata (Pennant, 1977). Toxicon. 2015;108:184-8 pubmed publisher
    ..Unidentified hidden transcripts may significantly impact conclusions made regarding venom composition (or other multi-copy conserved genes) when using Trinity or other de novo assembly programs. ..
  26. Bachvaroff T, Place A, Coats D. Expressed sequence tags from Amoebophrya sp. infecting Karlodinium veneficum: comparing host and parasite sequences. J Eukaryot Microbiol. 2009;56:531-41 pubmed publisher
    ..The genome of Amoebophrya sp. infecting K. veneficum appears to have an organization more similar to other eukaryotes than to the tandem gene arrangements found in dinoflagellates. ..
  27. Falchi M, El Sayed Moustafa J, Takousis P, Pesce F, Bonnefond A, Andersson Assarsson J, et al. Low copy number of the salivary amylase gene predisposes to obesity. Nat Genet. 2014;46:492-7 pubmed publisher
    ..Our study provides a first genetic link between carbohydrate metabolism and BMI and demonstrates the power of integrated genomic approaches beyond genome-wide association studies. ..
  28. 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. ..
  29. 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...
  30. 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. ..
  31. 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. ..
  32. 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. ..
  33. 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. ..
  34. 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. ..
  35. 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. ..
  36. 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. ..
  37. 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. ..
  38. 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. ..
  39. 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. ..
  40. 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. ..
  41. 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. ..
  42. 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. ..
  43. 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. ..
  44. 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. ..
  45. 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. ..
  46. 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
  47. 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
  48. 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. ..
  49. 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. ..
  50. 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...
  51. Demuth J, Hahn M. The life and death of gene families. Bioessays. 2009;31:29-39 pubmed publisher
  52. 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. ..
  53. 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. ..
  54. 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. ..
  55. 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...
  56. 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...
  57. 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. ..
  58. 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. ..
  59. 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. ..
  60. 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. ..
  61. 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. ..
  62. 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. ..
  63. 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. ..
  64. 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. ..
  65. 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. ..
  66. 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. ..
  67. 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. ..
  68. 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. ..
  69. 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. ..
  70. 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. ..
  71. 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. ..
  72. 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. ..
  73. 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. ..
  74. 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. ..
  75. 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. ..
  76. 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. ..
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