Genomes and Genes
Experts and Doctors on phenotype in Worcester, Massachusetts, United States
Locale: Worcester, Massachusetts, United States
- 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). ..
- 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. ..
- 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. ..
- 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. ..
- Hutvagner G, Simard M, Mello C, Zamore P. Sequence-specific inhibition of small RNA function. PLoS Biol. 2004;2:E98 pubmed
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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...
- 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
- 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
- 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. ..
- 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. ..