Experts and Doctors on phenotype in Vancouver, British Columbia, Canada

Summary

Locale: Vancouver, British Columbia, Canada
Topic: phenotype

Top Publications

  1. Landecker H, Sinclair D, Brock H. Screen for enhancers of Polycomb and Polycomblike in Drosophila melanogaster. Dev Genet. 1994;15:425-34 pubmed
    ..We also show that spalt enhances Polycomb group mutations. These results are discussed with respect to previous estimates of Polycomb group gene number. ..
  2. Lloyd V, Sinclair D, Alperyn M, Grigliatti T. Enhancer of garnet/deltaAP-3 is a cryptic allele of the white gene and identifies the intracellular transport system for the white protein. Genome. 2002;45:296-312 pubmed
    ..This observation supports a role for these genes in intracellular transport and leads to a model whereby incorrect sorting of the white gene product can explain the pigmentation phenotypes of an entire group of eye-color genes...
  3. von Dadelszen P, Magee L. What matters in preeclampsia are the associated adverse outcomes: the view from Canada. Curr Opin Obstet Gynecol. 2008;20:110-5 pubmed publisher
  4. Choi H, Rahmani M, Wong B, Allahverdian S, McManus B, Pickering J, et al. ATP-binding cassette transporter A1 expression and apolipoprotein A-I binding are impaired in intima-type arterial smooth muscle cells. Circulation. 2009;119:3223-31 pubmed publisher
  5. Jiang X, Shen C, Yu H, Karunakaran K, Brunham R. Differences in innate immune responses correlate with differences in murine susceptibility to Chlamydia muridarum pulmonary infection. Immunology. 2010;129:556-66 pubmed publisher
    ..muridarum pulmonary infection are associated with differences in early innate cytokine and cellular responses that are correlated with late differences in T helper type 17 versus type 1 adaptive immune responses...
  6. Scott A, Danielson P, Abraham T, Fong G, Sampaio A, Underhill T. Mechanical force modulates scleraxis expression in bioartificial tendons. J Musculoskelet Neuronal Interact. 2011;11:124-32 pubmed
  7. Visscher H, Ross C, Rassekh S, Barhdadi A, Dube M, Al Saloos H, et al. Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. J Clin Oncol. 2012;30:1422-8 pubmed publisher
    ..Combined with clinical risk factors, genetic risk profiling might be used to identify high-risk patients who can then be provided with safer treatment options. ..
  8. Dhillon R, Schulte P. Intraspecific variation in the thermal plasticity of mitochondria in killifish. J Exp Biol. 2011;214:3639-48 pubmed publisher
  9. Carlow D, Corbel S, Ziltener H. Absence of CD43 fails to alter T cell development and responsiveness. J Immunol. 2001;166:256-61 pubmed

More Information

Publications137 found, 100 shown here

  1. Coombes B, Coburn B, Potter A, Gomis S, Mirakhur K, Li Y, et al. Analysis of the contribution of Salmonella pathogenicity islands 1 and 2 to enteric disease progression using a novel bovine ileal loop model and a murine model of infectious enterocolitis. Infect Immun. 2005;73:7161-9 pubmed
    ..These data delineate novel phenotypes for SPI-1 and SPI-2 mutants in the intestinal phase of bovine and murine salmonellosis and provide working models to further investigate the effector contribution to these pathologies. ..
  2. Tarailo M, Kitagawa R, Rose A. Suppressors of spindle checkpoint defect (such) mutants identify new mdf-1/MAD1 interactors in Caenorhabditis elegans. Genetics. 2007;175:1665-79 pubmed
    ..elegans. The such-1/APC5-like mutation, h1960, significantly delays anaphase onset both in germline and in early embryonic cells. ..
  3. Veinotte L, Halim T, Takei F. Unique subset of natural killer cells develops from progenitors in lymph node. Blood. 2008;111:4201-8 pubmed publisher
    ..Athymic mice lack the LN NK progenitors expressing CD127 as well as Tcrgamma(+) NK cells. These results suggest that Tcrgamma(+) NK cells may be generated from unique progenitors in the thymus as well as in the LN. ..
  4. Yang C, Chapman A, Kelsey A, Minks J, Cotton A, Brown C. X-chromosome inactivation: molecular mechanisms from the human perspective. Hum Genet. 2011;130:175-85 pubmed publisher
    ..We discuss the potential nature of these elements and also review the elements in the X inactivation center involved in the early events in X-chromosome inactivation. ..
  5. Petit A, Sanders A, Kennedy T, Tetzlaff W, Glattfelder K, Dalley R, et al. Adult spinal cord radial glia display a unique progenitor phenotype. PLoS ONE. 2011;6:e24538 pubmed publisher
    ..Gene ontology analysis highlights potentially unique regulatory pathways that may be further manipulated in SCRG to enhance repair in the context of injury and SC disease. ..
  6. Ennishi D, Mottok A, Ben Neriah S, Shulha H, Farinha P, Chan F, et al. Genetic profiling of MYC and BCL2 in diffuse large B-cell lymphoma determines cell-of-origin-specific clinical impact. Blood. 2017;129:2760-2770 pubmed publisher
    ..These results suggest COO subtype-specific biomarkers based on BCL2 genetic alterations can be used to risk-stratify patients with DLBCL treated with immunochemotherapy. ..
  7. Sinclair D, Milne T, Hodgson J, Shellard J, Salinas C, Kyba M, et al. The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes. Development. 1998;125:1207-16 pubmed
    ..The differences in target site recognition may account for some of the differences in Asx phenotypes relative to other members of the Polycomb group. ..
  8. Brinkman F, Schoofs G, Hancock R, De Mot R. Influence of a putative ECF sigma factor on expression of the major outer membrane protein, OprF, in Pseudomonas aeruginosa and Pseudomonas fluorescens. J Bacteriol. 1999;181:4746-54 pubmed
    ..aeruginosa clinical isolates. Collectively, these data indicate that an ECF sigma factor plays a role in the regulation and expression of OprF and also affects other genes...
  9. Richman J, Fu K, Cox L, Sibbons J, Cox T. Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development. Int J Dev Biol. 2002;46:441-8 pubmed
    ..These data indicate that Mid1 plays an evolutionarily conserved developmental function in vertebrates that may involve effects on cellular proliferation, tissue interactions and morphogenesis. ..
  10. Noseda M, McLean G, Niessen K, Chang L, Pollet I, Montpetit R, et al. Notch activation results in phenotypic and functional changes consistent with endothelial-to-mesenchymal transformation. Circ Res. 2004;94:910-7 pubmed
  11. Zlosnik J, Hird T, Fraenkel M, Moreira L, Henry D, Speert D. Differential mucoid exopolysaccharide production by members of the Burkholderia cepacia complex. J Clin Microbiol. 2008;46:1470-3 pubmed publisher
    ..cenocepacia, the most virulent species of the complex, are most frequently nonmucoid. Additionally, isolates from patients with chronic infections can convert from mucoid to nonmucoid. ..
  12. Lund S, Peng F, Nayar T, Reid K, Schlosser J. Gene expression analyses in individual grape (Vitis vinifera L.) berries during ripening initiation reveal that pigmentation intensity is a valid indicator of developmental staging within the cluster. Plant Mol Biol. 2008;68:301-15 pubmed publisher
    ..Our results suggest a role for these genes in abscisic acid signaling during ripening initiation. ..
  13. Eirew P, Stingl J, Raouf A, Turashvili G, Aparicio S, Emerman J, et al. A method for quantifying normal human mammary epithelial stem cells with in vivo regenerative ability. Nat Med. 2008;14:1384-9 pubmed publisher
    ..This new assay procedure sets the stage for investigations of mechanisms regulating normal human mammary stem cells (and possibly stem cells in other tissues) and their relationship to human cancer stem cell populations...
  14. Yuen R, Avila L, Penaherrera M, von Dadelszen P, Lefebvre L, Kobor M, et al. Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes. PLoS ONE. 2009;4:e7389 pubmed publisher
    ..The identification of such "epipolymorphism" in other tissues and their use in association studies, should improve our understanding of interindividual phenotypic variability and complex disease susceptibility. ..
  15. Flibotte S, Edgley M, Chaudhry I, Taylor J, Neil S, Rogula A, et al. Whole-genome profiling of mutagenesis in Caenorhabditis elegans. Genetics. 2010;185:431-41 pubmed publisher
    ..We also present evidence of genetic drift among laboratory wild-type strains derived from the Bristol N2 strain. We make several suggestions for best practice using massively parallel short read sequencing to ensure mutation detection. ..
  16. Carthy J, Garmaroudi F, Luo Z, McManus B. Wnt3a induces myofibroblast differentiation by upregulating TGF-? signaling through SMAD2 in a ?-catenin-dependent manner. PLoS ONE. 2011;6:e19809 pubmed publisher
    ..As myofibroblasts are critical regulators of wound healing responses, these findings may have important implications for our understanding of normal and aberrant injury and repair events. ..
  17. Aminuddin F, Akhabir L, Stefanowicz D, Pare P, Connett J, Anthonisen N, et al. Genetic association between human chitinases and lung function in COPD. Hum Genet. 2012;131:1105-14 pubmed publisher
    ..Although a significant effect of chitinase gene alleles was found on lung function level and decline in the LHS, we were unable to replicate the associations with COPD affection status in the other COPD study groups. ..
  18. Cheung A, Leung D, Rostamirad S, Dhillon K, Miller P, Droumeva R, et al. Distinct but phenotypically heterogeneous human cell populations produce rapid recovery of platelets and neutrophils after transplantation. Blood. 2012;119:3431-9 pubmed publisher
    ..Experimental testing confirmed the clinical relevance of the surrogate xenotransplantation assay for quantifying cells with rapid platelet regenerative activity, underscoring its potential for future applications. ..
  19. Svanback R, Schluter D. Niche specialization influences adaptive phenotypic plasticity in the threespine stickleback. Am Nat. 2012;180:50-9 pubmed publisher
    ..Our data indicate that plasticity can evolve rapidly after colonization of a new environment in response to changing niche use. ..
  20. Fujita M, Himmelspach R, Ward J, Whittington A, Hasenbein N, Liu C, et al. The anisotropy1 D604N mutation in the Arabidopsis cellulose synthase1 catalytic domain reduces cell wall crystallinity and the velocity of cellulose synthase complexes. Plant Physiol. 2013;162:74-85 pubmed publisher
    ..Neither phenomenon was observed in the any1 rsw1-1 transheterozygotes, suggesting that the proteins encoded by the any1 allele replace those encoded by rsw1-1 at restrictive temperature. ..
  21. Rowe H, Rieseberg L. Genome-scale transcriptional analyses of first-generation interspecific sunflower hybrids reveals broad regulatory compatibility. BMC Genomics. 2013;14:342 pubmed publisher
  22. Porth I, Klápště J, Skyba O, Hannemann J, McKown A, Guy R, et al. Genome-wide association mapping for wood characteristics in Populus identifies an array of candidate single nucleotide polymorphisms. New Phytol. 2013;200:710-26 pubmed publisher
    ..Our findings provide unique insights into wood trait architecture and support efforts for population improvement based on desirable allelic variants...
  23. Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017;25:823-831 pubmed publisher
    ..With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots. ..
  24. Lansdorp P, Dragowska W. Long-term erythropoiesis from constant numbers of CD34+ cells in serum-free cultures initiated with highly purified progenitor cells from human bone marrow. J Exp Med. 1992;175:1501-9 pubmed
    ..These results document that primitive hematopoietic cells can generate progeny without an apparent decrease in the size of a precursor cell pool. ..
  25. Miller G, Chen E. Unfavorable socioeconomic conditions in early life presage expression of proinflammatory phenotype in adolescence. Psychosom Med. 2007;69:402-9 pubmed
    ..To the extent that this proclivity toward inflammation persists over one's lifespan it could explain the heightened incidence of respiratory and cardiovascular disease in low SES populations. ..
  26. Gao Y, Wang S, Asami T, Chen J. Loss-of-function mutations in the Arabidopsis heterotrimeric G-protein alpha subunit enhance the developmental defects of brassinosteroid signaling and biosynthesis mutants. Plant Cell Physiol. 2008;49:1013-24 pubmed publisher
    ..Taken together, these results provided the first genetic evidence that G-protein- and BR-mediated pathways may be converged to modulate cell proliferation in a cell/tissue-specific manner. ..
  27. Dalziel A, Rogers S, Schulte P. Linking genotypes to phenotypes and fitness: how mechanistic biology can inform molecular ecology. Mol Ecol. 2009;18:4997-5017 pubmed publisher
  28. Dalziel A, Schulte P. Correlates of prolonged swimming performance in F2 hybrids of migratory and non-migratory threespine stickleback. J Exp Biol. 2012;215:3587-96 pubmed
    ..These data suggest that many traits, interactions among traits and traits not measured in this study affect prolonged swimming performance in threespine stickleback. ..
  29. Costea I, Mack D, Lemaitre R, Israel D, Marcil V, Ahmad A, et al. Interactions between the dietary polyunsaturated fatty acid ratio and genetic factors determine susceptibility to pediatric Crohn's disease. Gastroenterology. 2014;146:929-31 pubmed publisher
    ..Our findings implicate diet-gene interactions in the pathogenesis of CD. ..
  30. Eldstrom J, Wang Z, Werry D, Wong N, Fedida D. Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. Heart Rhythm. 2015;12:386-94 pubmed publisher
    ..40) and long open-state dwell times. S3 mutations in KCNQ1 cause diverse kinetic defects in I(Ks), affecting opening and closing properties, and can account for LQT1 phenotypes. ..
  31. Rudman S, Schluter D. Ecological Impacts of Reverse Speciation in Threespine Stickleback. Curr Biol. 2016;26:490-5 pubmed publisher
    ..Moreover, the rapid nature and resultant ecological impacts associated with reverse speciation demonstrates the interplay between biodiversity, evolutionary change, and ecosystem function. ..
  32. Sadovnick A, Traboulsee A, Zhao Y, Bernales C, Encarnacion M, Ross J, et al. Genetic modifiers of multiple sclerosis progression, severity and onset. Clin Immunol. 2017;180:100-105 pubmed publisher
    ..031 and 0.023). In addition, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age at MS clinical onset, and MC1R p.R160W with delayed onset of clinical symptoms (p=0.010-0.041). ..
  33. Kitagawa K, Skowyra D, Elledge S, Harper J, Hieter P. SGT1 encodes an essential component of the yeast kinetochore assembly pathway and a novel subunit of the SCF ubiquitin ligase complex. Mol Cell. 1999;4:21-33 pubmed
    ..sgt1-5 (G1 allele) mutants are defective in Sic1p turnover in vivo and Cln1p ubiquitination in vitro. Human SGT1 rescues an sgt1 null mutation, suggesting that the function of SGT1 is conserved in evolution. ..
  34. Sandford A, Chagani T, Weir T, Connett J, Anthonisen N, Pare P. Susceptibility genes for rapid decline of lung function in the lung health study. Am J Respir Crit Care Med. 2001;163:469-73 pubmed
    ..9, p = 0.04). The alpha1-antitrypsin S and 3' polymorphisms, vitamin D-binding protein isoforms, and tumor necrosis factor (TNF-alpha G-308A and TNF-beta A252G) polymorphisms were not associated with rate of decline of lung function. ..
  35. Clee S, Zwinderman A, Engert J, Zwarts K, Molhuizen H, Roomp K, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198-205 pubmed
    ..However, the extent to which common variation within this gene influences plasma lipid levels and CAD in the general population is unknown...
  36. Lu W, Shapiro J, Yu M, Barekatain A, Lo B, Finner A, et al. Alopecia areata: pathogenesis and potential for therapy. Expert Rev Mol Med. 2006;8:1-19 pubmed
    ..However, the pathogenetic disease mechanism is particularly robust and the development of a cure for AA will be a significant challenge. ..
  37. Goritschnig S, Zhang Y, Li X. The ubiquitin pathway is required for innate immunity in Arabidopsis. Plant J. 2007;49:540-51 pubmed
    ..Our data reveal the definite requirement for the ubiquitination pathway in the activation and downstream signalling of several R-proteins. ..
  38. Brunham L, Lansberg P, Zhang L, Miao F, Carter C, Hovingh G, et al. Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J. 2012;12:233-7 pubmed publisher
    ..Our findings provide further support for a role for SLCO1B1 genotype in simvastatin-associated myopathy, and suggest that this association may be stronger for simvastatin compared with atorvastatin...
  39. Magnuson Ford K, Otto S. Linking the investigations of character evolution and species diversification. Am Nat. 2012;180:225-45 pubmed publisher
    ..g., niche-related traits), BiSSE-ness provides a suitable framework with which to simultaneously address questions regarding species diversification and character change. ..
  40. Porth I, White R, Jaquish B, Alfaro R, Ritland C, Ritland K. Genetical genomics identifies the genetic architecture for growth and weevil resistance in spruce. PLoS ONE. 2012;7:e44397 pubmed publisher
    ..These results will enable future work on functional genetic studies of insect resistance in spruce, and provide valuable information about candidate genes for genetic improvement of spruce. ..
  41. Chen C, Ritland K. Lineage-specific mapping of quantitative trait loci. Heredity (Edinb). 2013;111:106-13 pubmed publisher
    ..Extensions of lineage-specific QTL mapping to other types of data and crosses, and to inference of ancestral QTL state, are discussed. ..
  42. Western T, Young D, Dean G, Tan W, Samuels A, Haughn G. MUCILAGE-MODIFIED4 encodes a putative pectin biosynthetic enzyme developmentally regulated by APETALA2, TRANSPARENT TESTA GLABRA1, and GLABRA2 in the Arabidopsis seed coat. Plant Physiol. 2004;134:296-306 pubmed
    ..Our results provide a framework for the regulation of mucilage production and secretory cell differentiation. ..
  43. Wang S, Chang Y, Guo J, Chen J. Arabidopsis Ovate Family Protein 1 is a transcriptional repressor that suppresses cell elongation. Plant J. 2007;50:858-72 pubmed
    ..Taken together, our results indicate that AtOFP1 is an active transcriptional repressor that has a role in regulating cell elongation in plants. ..
  44. Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe B, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011;4:25 pubmed publisher
    ..The large number of apparently false positive CNV calls on each of the platforms supports the need for validating clinically important findings with a different technology. ..
  45. Ispolatov I, Ackermann M, Doebeli M. Division of labour and the evolution of multicellularity. Proc Biol Sci. 2012;279:1768-76 pubmed publisher
    ..Stickiness can increase evolutionarily owing to the fitness advantage generated by the division of labour between cells in an aggregate...
  46. Cheng N, Sinclair D, Campbell R, Brock H. Interactions of polyhomeotic with Polycomb group genes of Drosophila melanogaster. Genetics. 1994;138:1151-62 pubmed
    ..Based on this phenotypic analysis, we suggest that ph may perform different functions in conjunction with differing subsets of Pc group genes. ..
  47. Eisterer W, Jiang X, Christ O, Glimm H, Lee K, Pang E, et al. Different subsets of primary chronic myeloid leukemia stem cells engraft immunodeficient mice and produce a model of the human disease. Leukemia. 2005;19:435-41 pubmed
    ..These findings demonstrate the validity of this xenograft model of chronic phase human CML, which should enable future investigation of disease pathogenesis and new approaches to therapy. ..
  48. O Connor M, Kardel M, Iosfina I, Youssef D, Lu M, Li M, et al. Alkaline phosphatase-positive colony formation is a sensitive, specific, and quantitative indicator of undifferentiated human embryonic stem cells. Stem Cells. 2008;26:1109-16 pubmed publisher
    ..Its use under standardized assay conditions should enhance future elucidation of the mechanisms that regulate hESC propagation and their early differentiation. ..
  49. Bolourani P, Spiegelman G, Weeks G. Determinants of RasC specificity during Dictyostelium aggregation. J Biol Chem. 2010;285:41374-9 pubmed publisher
    ..These results emphasize the importance of both the single amino acid at position 31 and the C-terminal sequence for the specific function of RasC during Dictyostelium aggregation. ..
  50. Armstrong L, Jett K, Birch P, Kendler D, McKay H, Tsang E, et al. The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. Am J Med Genet A. 2013;161A:1654-61 pubmed publisher
    ..Effects of decreased neurofibromin on bone turnover, calcium homeostasis, and pubertal development may contribute to the differences in bone mineral content observed among people with NF1. ..
  51. Schluter C, Lam K, Brumm J, Wu B, Saunders M, Stevens T, et al. Global analysis of yeast endosomal transport identifies the vps55/68 sorting complex. Mol Biol Cell. 2008;19:1282-94 pubmed publisher
    ..Our results suggest the Vps55/68 complex mediates a novel, conserved step in the endosomal maturation process. ..
  52. Choi J, Grimes D, Rowe K, Howe L. Acetylation of Rsc4p by Gcn5p is essential in the absence of histone H3 acetylation. Mol Cell Biol. 2008;28:6967-72 pubmed publisher
    ..These results demonstrate for the first time the vital and yet redundant functions of histone H3 and Rsc4p acetylation in maintaining cell viability. ..
  53. Mesak L, Davies J. Phenotypic changes in ciprofloxacin-resistant Staphylococcus aureus. Res Microbiol. 2009;160:785-91 pubmed publisher
    ..We show that mitomycin C and moxifloxacin induced overexpression of the norA gene in Cip(r) strains. Finally, we confirm that subinhibitory concentrations of CIP increase mutation rates in S. aureus. ..
  54. Huang J, Debowles D, Esfandiari E, Dean G, Carpita N, Haughn G. The Arabidopsis transcription factor LUH/MUM1 is required for extrusion of seed coat mucilage. Plant Physiol. 2011;156:491-502 pubmed publisher
    ..7, and ?-XYLOSIDASE1, was reduced relative to that of the wild type. Overexpression of MUM2 could partially rescue the mum1 phenotype. These data suggest that LUH/MUM1 is a positive regulator of all three genes. ..
  55. Jacob K, Robinson W, Lefebvre L. Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth. Clin Genet. 2013;84:326-34 pubmed publisher
    ..5. A detailed description of the phenotypic abnormalities associated with each syndrome must take into consideration the developmental functions of each gene involved. ..
  56. Dubois B, Feldman H, Jacova C, Hampel H, Molinuevo J, Blennow K, et al. Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet Neurol. 2014;13:614-29 pubmed publisher
    ..This paper also elaborates on the specific diagnostic criteria for atypical forms of AD, for mixed AD, and for the preclinical states of AD. ..
  57. Oh R, Ho R, Mar L, Gertsenstein M, Paderova J, Hsien J, et al. Epigenetic and phenotypic consequences of a truncation disrupting the imprinted domain on distal mouse chromosome 7. Mol Cell Biol. 2008;28:1092-103 pubmed
    ..Thus, all the imprinted genes located in the region and required for normal development are silenced by an IC2-dependent mechanism on the paternal allele...
  58. Low A, Swenson L, Harrigan P. HIV coreceptor phenotyping in the clinical setting. AIDS Rev. 2008;10:143-51 pubmed
  59. Barth K, Waterfield J, Brunette D. The effect of surface roughness on RAW 264.7 macrophage phenotype. J Biomed Mater Res A. 2013;101:2679-88 pubmed publisher
    ..RAW 264.7 macrophages on the SLA surface thus adopted elements of an M2-like phenotype, suggesting that when implanted the SLA surfaces may enhance wound repair. ..
  60. Wen J, Lopes F, Soares G, Farrell S, Nelson C, Qiao Y, et al. Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. Orphanet J Rare Dis. 2013;8:100 pubmed publisher
    ..Documenting their dysfunction at the cellular level in patient cells enhanced our understanding of biological processes which contribute to the clinical phenotype. ..
  61. Gilchrist E, Moerman D. Mutations in the sup-38 gene of Caenorhabditis elegans suppress muscle-attachment defects in unc-52 mutants. Genetics. 1992;132:431-42 pubmed
    ..Putative null sup-38 mutations cause maternal-effect lethality which is rescued by a wild-type copy of the locus in the zygote. These loss-of-function mutations have no effect on the body wall muscle structure. ..
  62. Abramovitch R, Yang G, Kronstad J. The ukb1 gene encodes a putative protein kinase required for bud site selection and pathogenicity in Ustilago maydis. Fungal Genet Biol. 2002;37:98-108 pubmed
    ..In addition, the ukb1 gene influenced the ability of colonies to form aerial mycelia in response to environmental stimuli. Overall, the discovery of ukb1 reinforces the connection between morphogenesis and pathogenesis in U. maydis...
  63. Huculak C, Bruyere H, Nelson T, Kozak F, Langlois S. V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A. 2006;140:2394-400 pubmed
  64. Tarailo M, Tarailo S, Rose A. Synthetic lethal interactions identify phenotypic "interologs" of the spindle assembly checkpoint components. Genetics. 2007;177:2525-30 pubmed
  65. Sloma I, Jiang X, Eaves A, Eaves C. Insights into the stem cells of chronic myeloid leukemia. Leukemia. 2010;24:1823-33 pubmed publisher
    ..In particular, these emphasize the need for new agents that effectively and specifically target CML stem cells to produce non-toxic, but curative therapies that do not require lifelong treatments. ..
  66. Dar Nimrod I, Heine S. Genetic essentialism: on the deceptive determinism of DNA. Psychol Bull. 2011;137:800-18 pubmed publisher
    ..Last, moderating factors and interventions to reduce the magnitude of genetic essentialism, which identify promising directions to explore in order to reduce these biases, are discussed. ..
  67. Kumar R, Kushalappa K, Godt D, Pidkowich M, Pastorelli S, Hepworth S, et al. The Arabidopsis BEL1-LIKE HOMEODOMAIN proteins SAW1 and SAW2 act redundantly to regulate KNOX expression spatially in leaf margins. Plant Cell. 2007;19:2719-35 pubmed
    ..Taken together, our data suggest that BLH2/SAW1 and BLH4/SAW2 establish leaf shape by repressing growth in specific subdomains of the leaf at least in part by repressing expression of one or more of the KNOX genes. ..
  68. Lloyd V, Sinclair D, Grigliatti T. Genomic imprinting and position-effect variegation in Drosophila melanogaster. Genetics. 1999;151:1503-16 pubmed
    ..This suggests that chromatin structure is important in maintenance of the imprint, but a separate mechanism may be responsible for its initiation. ..
  69. Kalesnikoff J, Sly L, Hughes M, Büchse T, Rauh M, Cao L, et al. The role of SHIP in cytokine-induced signaling. Rev Physiol Biochem Pharmacol. 2003;149:87-103 pubmed
    ..In this review we will concentrate on the properties of the three SHIPs, with special emphasis being placed on the role that SHIP plays in cytokine-induced signaling. ..
  70. Brunham L, Singaraja R, Duong M, Timmins J, Fievet C, Bissada N, et al. Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis. Arterioscler Thromb Vasc Biol. 2009;29:548-54 pubmed publisher
    ..The ATP-binding cassette transporter, subfamily A, member 1 (ABCA1) plays a key role in HDL cholesterol metabolism. However, the role of ABCA1 in modulating susceptibility to atherosclerosis is controversial...
  71. Monaghan J, Li X. The HEAT repeat protein ILITYHIA is required for plant immunity. Plant Cell Physiol. 2010;51:742-53 pubmed publisher
    ..Overall, our results show that ILA functions in immunity against bacterial infection. ..
  72. Weihmann T, Palma K, Nitta Y, Li X. Pleiotropic regulatory locus 2 exhibits unequal genetic redundancy with its homolog PRL1. Plant Cell Physiol. 2012;53:1617-26 pubmed publisher
  73. Williams J, Kendall B, Levine J. Rapid evolution accelerates plant population spread in fragmented experimental landscapes. Science. 2016;353:482-5 pubmed publisher
    ..Accounting for evolutionary change may be critical when predicting the velocity of range expansions. ..
  74. Hooker T, Lam P, Zheng H, Kunst L. A core subunit of the RNA-processing/degrading exosome specifically influences cuticular wax biosynthesis in Arabidopsis. Plant Cell. 2007;19:904-13 pubmed
    ..To our knowledge, CER7 is currently the only example of a core exosomal subunit specifically influencing a cellular process. ..
  75. Voduc D, Nielsen T, Cheang M, Foulkes W. The combination of high cyclin E and Skp2 expression in breast cancer is associated with a poor prognosis and the basal phenotype. Hum Pathol. 2008;39:1431-7 pubmed publisher
    ..In conclusion, the combination of high cyclin E and Skp2 expression predicts for poor prognosis in breast cancer in univariate analysis only, it is associated with high risk features, and it is associated with the basal phenotype. ..
  76. Eade K, Allan D. Neuronal phenotype in the mature nervous system is maintained by persistent retrograde bone morphogenetic protein signaling. J Neurosci. 2009;29:3852-64 pubmed publisher
  77. Zhang J, Daley D, Akhabir L, Stefanowicz D, Chan Yeung M, Becker A, et al. Lack of association of TIM3 polymorphisms and allergic phenotypes. BMC Med Genet. 2009;10:62 pubmed publisher
    ..These data suggest that polymorphisms in the TIM3 promoter region are unlikely to play an important role in susceptibility to allergic diseases. ..
  78. Shelswell K, Beatty J. Coordinated, long-range, solid substrate movement of the purple photosynthetic bacterium Rhodobacter capsulatus. PLoS ONE. 2011;6:e19646 pubmed publisher
    ..capsulatus is capable of genuine phototaxis. Therefore, the variability in the direction of cell movement was attributed to optical effects on light waves passing through the plate material and agar medium...
  79. Mack S, Witt H, Piro R, Gu L, Zuyderduyn S, Stütz A, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 2014;506:445-50 pubmed publisher
    ..We conclude that epigenetic modifiers are the first rational therapeutic candidates for this deadly malignancy, which is epigenetically deregulated but genetically bland. ..
  80. Kapplinger J, Erickson A, Asuri S, Tester D, McIntosh S, Kerr C, et al. KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. J Med Genet. 2017;54:390-398 pubmed publisher
    ..Through this mechanism, we identified that p.L353L can precipitate QT prolongation by itself and produce a clinically relevant interactive effect in conjunction with other LQTS variants. ..
  81. Alvarez C, Tredwell S, De Vera M, Hayden M. The genotype-phenotype correlation of hereditary multiple exostoses. Clin Genet. 2006;70:122-30 pubmed
    ..A genotype-phenotype correlation exists in HME, with patients with EXT 1 mutations having a higher degree of anatomical burden...
  82. Mackenzie I. The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol. 2007;114:49-54 pubmed
    ..This degree of clinical variability makes it difficult to predict which cases of familial FTD will turn out to have a PGRN mutation. ..
  83. Xia S, Zhu Z, Hao L, Chen J, Xiao L, Zhang Y, et al. Negative regulation of systemic acquired resistance by replication factor C subunit3 in Arabidopsis. Plant Physiol. 2009;150:2009-17 pubmed publisher
    ..As Replication Factor C is involved in replication-coupled chromatin assembly, our data suggest that chromatin assembly and remodeling may play important roles in the negative control of PR gene expression and SAR. ..
  84. Guella I, McKenzie M, Evans D, Buerki S, Toyota E, Van Allen M, et al. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet. 2017;101:300-310 pubmed publisher
    ..Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations. ..
  85. Sinclair D, Lloyd V, Grigliatti T. Characterization of mutations that enhance position-effect variegation in Drosophila melanogaster. Mol Gen Genet. 1989;216:328-33 pubmed
    ..Based on the results of these studies, various hypothetical functions of the E(var)+ products are suggested. ..
  86. Mar L, Hoodless P. Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling. Mol Cell Biol. 2006;26:4302-10 pubmed
    ..However, an absence of Tgif did not alter the normal inhibition of proliferation caused by treatment with TGF-beta or retinoic acid. Developmental control of proliferation by Tgif may play a role in the pathogenesis of HPE. ..
  87. Harley C, Pankey M, Wares J, Grosberg R, Wonham M. Color polymorphism and genetic structure in the sea star Pisaster ochraceus. Biol Bull. 2006;211:248-62 pubmed
    ..We propose that, although the color polymorphism may have an underlying genetic component, the regional-scale variation in color frequency is ecologically controlled. ..
  88. Zhuang S, Linhananta A, Li H. Phenotypic effects of Ehlers-Danlos syndrome-associated mutation on the FnIII domain of tenascin-X. Protein Sci. 2010;19:2231-9 pubmed publisher
    ..Our results may provide new insights in understanding the molecular basis for the pathogenesis of V1195M-resulted EDS. ..
  89. Ahrens R, Devlin R. Standing genetic variation and compensatory evolution in transgenic organisms: a growth-enhanced salmon simulation. Transgenic Res. 2011;20:583-97 pubmed publisher
    ..The present model has revealed the importance of understanding effects of selection for background genetics on the evolution of phenotypes in populations harbouring transgenes. ..
  90. Clarke L, Nelson P, Warrington C, Morris C, Hopwood J, Scott H. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat. 1994;3:275-82 pubmed
    ..These mutations are the most frequent MPS I mutations detected so far after W402X and Q70X. With the definition of these two mutations, a clear picture of the molecular heterogeneity of MPS I is emerging. ..
  91. Kim S, Virmani D, Wake K, MacDonald K, Kronstad J, Ellis B. Cloning and disruption of a phenylalanine ammonia-lyase gene from Ustilago maydis. Curr Genet. 2001;40:40-8 pubmed
    ..These mutants behaved like wild-type strains in terms of growth, mating, and pathogenicity. These results indicate that PAL does not play a major role in the life cycle of U. maydis under laboratory conditions. ..
  92. Hamilton J, Lexer C, Aitken S. Genomic and phenotypic architecture of a spruce hybrid zone (Picea sitchensis × P. glauca). Mol Ecol. 2013;22:827-41 pubmed publisher
    ..This study provides insight into the mechanisms underlying adaptation across ecologically transitional hybrid zones that will ultimately provide an additional tool in managing these economically important tree species. ..