Experts and Doctors on phenotype in Worcester, Massachusetts, United States


Locale: Worcester, Massachusetts, United States
Topic: phenotype

Top Publications

  1. Saha B, Momen Heravi F, Kodys K, Szabo G. MicroRNA Cargo of Extracellular Vesicles from Alcohol-exposed Monocytes Signals Naive Monocytes to Differentiate into M2 Macrophages. J Biol Chem. 2016;291:149-59 pubmed publisher
  2. Fuxman Bass J, Diallo A, Nelson J, Soto J, Myers C, Walhout A. Using networks to measure similarity between genes: association index selection. Nat Methods. 2013;10:1169-76 pubmed publisher
    ..We introduce the Guide for Association Index for Networks (GAIN), a web tool for calculating and comparing interaction-profile similarities and defining modules of genes with similar profiles. ..
  3. Prince M, Banerjee C, Javed A, Green J, Lian J, Stein G, et al. Expression and regulation of Runx2/Cbfa1 and osteoblast phenotypic markers during the growth and differentiation of human osteoblasts. J Cell Biochem. 2001;80:424-40 pubmed
    ..Moreover, the data suggest that in committed human osteoblasts, constitutive expression of Cbfa1 may be required to sustain the osteoblast phenotype. ..
  4. Vidali L, Bezanilla M. Physcomitrella patens: a model for tip cell growth and differentiation. Curr Opin Plant Biol. 2012;15:625-31 pubmed publisher
    ..Future studies may establish a connection between the actin cytoskeleton and auxin or nutrient-induced cell differentiation. ..
  5. Feng Q, Lu S, Klimanskaya I, Gomes I, Kim D, Chung Y, et al. Hemangioblastic derivatives from human induced pluripotent stem cells exhibit limited expansion and early senescence. Stem Cells. 2010;28:704-12 pubmed publisher
    ..Before clinical application, it will be necessary to determine the cause and extent of such abnormalities and whether they also occur in hiPSCs generated using different reprogramming methods. ..
  6. Debruyne J, Noton E, Lambert C, Maywood E, Weaver D, Reppert S. A clock shock: mouse CLOCK is not required for circadian oscillator function. Neuron. 2006;50:465-77 pubmed
    ..Our data challenge a central feature of the current mammalian circadian clock model regarding the necessity of CLOCK:BMAL1 heterodimers for clock function. ..
  7. Selin L, Varga S, Wong I, Welsh R. Protective heterologous antiviral immunity and enhanced immunopathogenesis mediated by memory T cell populations. J Exp Med. 1998;188:1705-15 pubmed
    ..These results indicate that how a host responds to an infectious agent is a function of its history of previous infections and their influence on the memory T cell pool...
  8. Cheesman H, Feinbaum R, Thekkiniath J, Dowen R, Conery A, Pukkila Worley R. Aberrant Activation of p38 MAP Kinase-Dependent Innate Immune Responses Is Toxic to Caenorhabditis elegans. G3 (Bethesda). 2016;6:541-9 pubmed publisher
    ..Together, these data suggest that the activity of the MAPKKK NSY-1 is tightly regulated as part of a physiological mechanism to control p38 MAPK-mediated innate immune hyperactivation, and ensure cellular homeostasis in C. elegans. ..
  9. Zhang Z, Almeida S, Lu Y, Nishimura A, Peng L, Sun D, et al. Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations. PLoS ONE. 2013;8:e76055 pubmed publisher
    ..These results show that iPSC models of FTD/ALS are useful for revealing stress-dependent cellular defects of human patient neurons containing rare TDP-43 mutations in their native genetic contexts. ..

More Information


  1. Meng J, Drolet J, Monks B, Golenbock D. MD-2 residues tyrosine 42, arginine 69, aspartic acid 122, and leucine 125 provide species specificity for lipid IVA. J Biol Chem. 2010;285:27935-43 pubmed publisher
    ..Thus, surface charge differences at the two MD-2/TLR4 interfaces determine the species-specific activation of lipid IV(A). ..
  2. Odgren P, Pratt C, MacKay C, Mason Savas A, Curtain M, Shopland L, et al. Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies. PLoS ONE. 2010;5:e9959 pubmed publisher
    ..Nuclear morphometry of cultured cells revealed gene dose-dependent blebbing and wrinkling. Dhe mice should provide a useful new model for investigations of the pathogenesis of laminopathies. ..
  3. Wu X, Wan S, Pujar S, Haskins M, Schlafer D, Lee M, et al. A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome. J Androl. 2009;30:46-56 pubmed publisher
    ..Findings in this model could enable insights to be garnered from correlation of detailed clinical descriptions with molecular defects, which are not otherwise possible in the human syndrome. ..
  4. Hayward L, Kim J, Lee M, Zhou H, Kim J, Misra K, et al. Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest. 2008;118:1437-49 pubmed publisher
  5. Oh S, Mukhopadhyay A, Dixit B, Raha T, Green M, Tissenbaum H. Identification of direct DAF-16 targets controlling longevity, metabolism and diapause by chromatin immunoprecipitation. Nat Genet. 2006;38:251-7 pubmed
    ..We also demonstrate that DAF-16 is recruited to multiple promoters to coordinate regulation of its downstream targets. The large number of target genes discovered provides insight into how DAF-16 controls diverse biological functions. ..
  6. Hutvagner G, Simard M, Mello C, Zamore P. Sequence-specific inhibition of small RNA function. PLoS Biol. 2004;2:E98 pubmed
  7. Mankidy R, Hastings J, Thackeray J. Distinct phospholipase C-gamma-dependent signaling pathways in the Drosophila eye and wing are revealed by a new small wing allele. Genetics. 2003;164:553-63 pubmed
  8. Abysalh J, Kuchnicki L, Larochelle D. The identification of pats1, a novel gene locus required for cytokinesis in Dictyostelium discoideum. Mol Biol Cell. 2003;14:14-25 pubmed
    ..These regulatory domains coupled with the protein-protein interacting domains suggest that pats1 is involved in signal transduction during cytokinesis in Dictyostelium. ..
  9. Poteete A, Fenton A, Wang H. Recombination-promoting activity of the bacteriophage lambda Rap protein in Escherichia coli K-12. J Bacteriol. 2002;184:4626-9 pubmed
    ..The results of these experiments indicated that the lambda rap gene could functionally substitute for the E. coli ruvC gene in Red-mediated recombination. ..
  10. Laforet G, Sapp E, Chase K, McIntyre C, Boyce F, Campbell M, et al. Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease. J Neurosci. 2001;21:9112-23 pubmed
    ..Results suggest that motor deficits in Huntington's disease arise from cumulative morphological and physiological changes in neurons that impair corticostriatal circuitry. ..
  11. Zaidi S, Young D, Montecino M, Lian J, Van Wijnen A, Stein J, et al. Mitotic bookmarking of genes: a novel dimension to epigenetic control. Nat Rev Genet. 2010;11:583-9 pubmed publisher
    ..We discuss the implications of phenotypic transcription factor retention on mitotic chromosomes in biological control and disease. ..
  12. Shi X, Garcia G, Van De Weghe J, McGorty R, Pazour G, Doherty D, et al. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome. Nat Cell Biol. 2017;19:1178-1188 pubmed publisher
    ..We propose that the disruption of transition-zone architecture in JBTS leads to a failure of SMO to accumulate at the transition zone and cilium, disrupting developmental signalling in JBTS. ..
  13. Hasan S, Tsaryk R, Lange M, Wisniewski L, Moore J, Lawson N, et al. Endothelial Notch signalling limits angiogenesis via control of artery formation. Nat Cell Biol. 2017;19:928-940 pubmed publisher
  14. Fritz A, Ghule P, Boyd J, Tye C, Page N, Hong D, et al. Intranuclear and higher-order chromatin organization of the major histone gene cluster in breast cancer. J Cell Physiol. 2018;233:1278-1290 pubmed publisher
    ..Our results provide a novel insight into the connection between the higher-order chromatin organization of the major HLB and its regulation during breast cancer progression. ..
  15. Peterson C, Zhao Y, Chait B. Subunits of the yeast SWI/SNF complex are members of the actin-related protein (ARP) family. J Biol Chem. 1998;273:23641-4 pubmed
  16. Staal A, Enserink J, Stein J, Stein G, van Wijnen A. Molecular characterization of celtix-1, a bromodomain protein interacting with the transcription factor interferon regulatory factor 2. J Cell Physiol. 2000;185:269-79 pubmed
    ..We conclude that the bromodomain protein Celtix-1 is a novel IRF-2 interacting protein that associates with transcriptionally active chromatin in situ. ..
  17. He F, Jacobson A. Upf1p, Nmd2p, and Upf3p regulate the decapping and exonucleolytic degradation of both nonsense-containing mRNAs and wild-type mRNAs. Mol Cell Biol. 2001;21:1515-30 pubmed
    ..The participation of the NMD factors in general mRNA degradation suggests that they may regulate an aspect of translation termination common to all transcripts. ..
  18. Wang D, Höing S, Patterson H, Ahmad U, Rathinam V, Rajewsky K, et al. Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. J Biol Chem. 2013;288:4594-601 pubmed publisher
  19. Keeler A, Conlon T, Walter G, Zeng H, Shaffer S, Dungtao F, et al. Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy. Mol Ther. 2012;20:1131-8 pubmed publisher
    ..These promising results suggest rAAV9 gene therapy as a potential treatment for VLCAD deficiency in humans. ..
  20. MacNeil L, Walhout A. Gene regulatory networks and the role of robustness and stochasticity in the control of gene expression. Genome Res. 2011;21:645-57 pubmed publisher
    ..Here, we discuss GRNs and their topological properties in relation to transcriptional and phenotypic outputs in development and organismal physiology. ..
  21. Ashraf S, Ganguly A, Roote J, Ip Y. Worniu, a Snail family zinc-finger protein, is required for brain development in Drosophila. Dev Dyn. 2004;231:379-86 pubmed
    ..The results suggest that the loss of Worniu function within the neuroblasts ultimately causes the larval brainstem to fail to go through shortening during development. ..
  22. Newburger P, Pindyck T, Zhu Z, Bolyard A, Aprikyan A, Dale D, et al. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010;55:314-7 pubmed publisher
  23. Lin S, Huang Y, Lee T. Nuclear receptor unfulfilled regulates axonal guidance and cell identity of Drosophila mushroom body neurons. PLoS ONE. 2009;4:e8392 pubmed publisher
    ..In sum, unf governs axonal morphogenesis of multiple MB neuron types, possibly through regulating neuronal subtype identity...
  24. Chatterjee M, Ip Y. Pathogenic stimulation of intestinal stem cell response in Drosophila. J Cell Physiol. 2009;220:664-71 pubmed publisher
    ..This system should allow molecular and genetic analyses of stem cell-mediated tissue repair. ..
  25. Balint E, Lapointe D, Drissi H, van der Meijden C, Young D, Van Wijnen A, et al. Phenotype discovery by gene expression profiling: mapping of biological processes linked to BMP-2-mediated osteoblast differentiation. J Cell Biochem. 2003;89:401-26 pubmed
    ..This global analysis identified a multistage molecular and cellular cascade that supports BMP-2-mediated osteoblast differentiation. ..
  26. Underwood J, Imbalzano K, Weaver V, Fischer A, Imbalzano A, Nickerson J. The ultrastructure of MCF-10A acini. J Cell Physiol. 2006;208:141-8 pubmed
    ..Electron microscopy has the resolution required to survey features of MCF-10A cell and acinus architecture that may change with manipulations designed to induce malignant phenotypes...
  27. Xia X, Zhou H, Samper E, Melov S, Xu Z. Pol II-expressed shRNA knocks down Sod2 gene expression and causes phenotypes of the gene knockout in mice. PLoS Genet. 2006;2:e10 pubmed
  28. Bond A, Mangus D, He F, Jacobson A. Absence of Dbp2p alters both nonsense-mediated mRNA decay and rRNA processing. Mol Cell Biol. 2001;21:7366-79 pubmed
  29. Lu Y, Zhang Z, Sun D, Sweeney S, Gao F. Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation. Mol Cell. 2013;52:264-71 pubmed publisher
    ..These results suggest that STX13 is a genetic modifier of ESCRT-III dysfunction and participates in the maturation of phagophores into closed autophagosomes. ..
  30. Pazour G, Dickert B, Vucica Y, Seeley E, Rosenbaum J, Witman G, et al. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol. 2000;151:709-18 pubmed
    ..This indicates that IFT is important for primary cilia assembly in mammals. It is likely that primary cilia have an important function in the kidney and that defects in their assembly can lead to polycystic kidney disease. ..