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

Summary

Locale: Vancouver, British Columbia, Canada
Topic: mutation

Top Publications

  1. Nguyen L, Chinnapapagari S, Thompson C. FbpA-Dependent biosynthesis of trehalose dimycolate is required for the intrinsic multidrug resistance, cell wall structure, and colonial morphology of Mycobacterium smegmatis. J Bacteriol. 2005;187:6603-11 pubmed
  2. Claydon T, Vaid M, Rezazadeh S, Kwan D, Kehl S, Fedida D. A direct demonstration of closed-state inactivation of K+ channels at low pH. J Gen Physiol. 2007;129:437-55 pubmed
  3. Jiang X, Saw K, Eaves A, Eaves C. Instability of BCR-ABL gene in primary and cultured chronic myeloid leukemia stem cells. J Natl Cancer Inst. 2007;99:680-93 pubmed
    ..Thus, patients may possess leukemic stem cells with BCR-ABL kinase mutations before initiation of BCR-ABL-targeted therapies and would likely be predisposed to develop resistance to these agents. ..
  4. de Azevedo Souza C, Kim S, Koch S, Kienow L, Schneider K, McKim S, et al. A novel fatty Acyl-CoA Synthetase is required for pollen development and sporopollenin biosynthesis in Arabidopsis. Plant Cell. 2009;21:507-25 pubmed publisher
    ..We propose that ACOS5 encodes an enzyme that participates in a conserved and ancient biochemical pathway required for sporopollenin monomer biosynthesis that may also include the Arabidopsis CYP703A2 and MS2 enzymes. ..
  5. Gallo M, Park D, Luciani D, Kida K, Palmieri F, Blacque O, et al. MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion. PLoS ONE. 2011;6:e17827 pubmed publisher
    ..Our results suggest that controlling MISC-1/OGC function allows regulation of mitochondrial morphology and cell survival decisions by the metabolic needs of the cell. ..
  6. Tharmarajah G, Faas L, Reiss K, Saftig P, Young A, Van Raamsdonk C. Adam10 haploinsufficiency causes freckle-like macules in Hairless mice. Pigment Cell Melanoma Res. 2012;25:555-65 pubmed publisher
    ..The pathways that specifically maintain long-term pigmentation patterns in adults are not well understood. We have identified Adam10 as an inhibitor of melanocyte expansion in adult skin. ..
  7. Anglesio M, Wang Y, Yang W, Senz J, Wan A, Heravi Moussavi A, et al. Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage. J Pathol. 2013;229:400-9 pubmed publisher
    ..We further propose that this resulting 3p strand bias in mature miRNA expression likely underpins the oncogenic potential of these hotspot mutations. ..
  8. Lowe C, Merrick L, Harrigan P, Mazzulli T, Sherlock C, Ritchie G. Implementation of Next-Generation Sequencing for Hepatitis B Virus Resistance Testing and Genotyping in a Clinical Microbiology Laboratory. J Clin Microbiol. 2016;54:127-33 pubmed publisher
    ..Our validation approach attempts to balance costs with efficient data acquisition. ..
  9. Marr N, Shah N, Lee R, Kim E, Fernandez R. Bordetella pertussis autotransporter Vag8 binds human C1 esterase inhibitor and confers serum resistance. PLoS ONE. 2011;6:e20585 pubmed publisher
    ..In conclusion, we have discovered a novel role for the previously uncharacterized protein Vag8 in the immune evasion of B. pertussis. Vag8 binds C1inh to the surface of the bacterium and confers serum resistance...

More Information

Publications417 found, 100 shown here

  1. Coombes B, Wickham M, Brown N, Lemire S, Bossi L, Hsiao W, et al. Genetic and molecular analysis of GogB, a phage-encoded type III-secreted substrate in Salmonella enterica serovar typhimurium with autonomous expression from its associated phage. J Mol Biol. 2005;348:817-30 pubmed
    ..These data define the first autonomously expressed lysogenic conversion gene within Gifsy-1 that acts as a modular and promiscuous type III-secreted substrate of the infection process...
  2. Zhang X, Mahmudi Azer S, Connett J, Anthonisen N, He J, Pare P, et al. Association of Hck genetic polymorphisms with gene expression and COPD. Hum Genet. 2007;120:681-90 pubmed
    ..These data suggest that the insertion/deletion polymorphism could be a functional polymorphism of the Hck gene, may contribute to COPD pathogenesis and modify COPD-related phenotypes. ..
  3. Chen X, Priatel J, Chow M, Teh H. Preferential development of CD4 and CD8 T regulatory cells in RasGRP1-deficient mice. J Immunol. 2008;180:5973-82 pubmed
    ..Activated CD8 Treg cells from RasGRP1(-/-) mice retained their ability to synthesize IL-10 and suppress the proliferation of wild-type CD8(+)CD122(-) T cells, albeit at a much lower efficiency than wild-type CD8 Treg cells. ..
  4. Blackburn G, Albert A, Otto S. The evolution of sex ratio adjustment in the presence of sexually antagonistic selection. Am Nat. 2010;176:264-75 pubmed publisher
    ..Our models indicate that the evolution of SRA in nature should be strongly influenced by the genetic architecture of the traits on which it is based and the form of selection affecting them. ..
  5. Notenboom V, Boraston A, Chiu P, Freelove A, Kilburn D, Rose D. Recognition of cello-oligosaccharides by a family 17 carbohydrate-binding module: an X-ray crystallographic, thermodynamic and mutagenic study. J Mol Biol. 2001;314:797-806 pubmed
    ..The structural differences in these two modules may reflect non-overlapping binding niches on cellulose surfaces. ..
  6. Missirlis P, Smailus D, Holt R. A high-throughput screen identifying sequence and promiscuity characteristics of the loxP spacer region in Cre-mediated recombination. BMC Genomics. 2006;7:73 pubmed
    ..The subset of loxP sites identified here are candidates for in vivo serial recombination as they have already demonstrated limited promiscuity with other loxP spacer and stability in the presence of Cre. ..
  7. Brown L, Johnson K, Leung S, Bismar T, Benitez J, Foulkes W, et al. Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. Breast Cancer Res Treat. 2010;121:347-54 pubmed publisher
    ..In addition, EMSY amplification occurred at a lower frequency in BRCA2 mutation carriers providing evidence to support EMSY amplification as a somatic surrogate for BRCA2 loss in sporadic breast cancer. ..
  8. Harris M, Juriloff D. An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure. Birth Defects Res A Clin Mol Teratol. 2010;88:653-69 pubmed publisher
  9. Bowden K, Bilbey N, Bilawchuk L, Boadu E, Sidhu R, Ory D, et al. Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. J Biol Chem. 2011;286:30624-35 pubmed publisher
  10. Zeng X, Thumati N, Fleisig H, Hukezalie K, Savage S, Giri N, et al. The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. Hum Mol Genet. 2012;21:721-9 pubmed publisher
    ..Our data confirm that dyskerin promotes TER stability in vivo, endorsing the development of TER supplementation strategies for the treatment of X-DC. ..
  11. Alcantara D, Timms A, Gripp K, Baker L, Park K, Collins S, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017;140:2610-2622 pubmed publisher
  12. Bragg P, Hou C. Effect of NBD chloride (4-chloro-7-nitrobenzo-2-oxa-1,3-diazole) on the pyridine nucleotide transhydrogenase of Escherichia coli. Biochim Biophys Acta. 1999;1413:159-71 pubmed
    ..The NBD-NADPH adduct will likely be more useful than NBD chloride in investigations of the pyridine nucleotide transhydrogenase. ..
  13. Kumar R, Everman D, Morgan C, Slavotinek A, Schwartz C, Simpson E. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. BMC Med Genet. 2007;8:48 pubmed
    ..In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes...
  14. Garrey S, Blech M, Riffell J, Hankins J, Stickney L, Diver M, et al. Substrate binding and active site residues in RNases E and G: role of the 5'-sensor. J Biol Chem. 2009;284:31843-50 pubmed publisher
    ..Our results point to the importance of alternative RNA binding sites in RNase E and to alternative pathways of RNA recognition. ..
  15. Appel Cresswell S, Vilariño Güell C, Encarnacion M, Sherman H, Yu I, Shah B, et al. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. Mov Disord. 2013;28:811-3 pubmed publisher
    ..The substitution's evolutionary conservation and protein modeling provide additional support for pathogenicity as the amino acid perturbs the same amphipathic alpha helical structure as the previously described pathogenic mutations. ..
  16. Luchini C, Veronese N, Solmi M, Cho H, Kim J, Chou A, et al. Prognostic role and implications of mutation status of tumor suppressor gene ARID1A in cancer: a systematic review and meta-analysis. Oncotarget. 2015;6:39088-97 pubmed publisher
    ..For its role, this gene should be considered as an important potential target for personalized medicine in cancer treatment. ..
  17. 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. ..
  18. 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. ..
  19. Timbers T, Rankin C. Tap withdrawal circuit interneurons require CREB for long-term habituation in Caenorhabditis elegans. Behav Neurosci. 2011;125:560-6 pubmed publisher
    ..Here we show for the first time that CREB is required for long-term habituation and show that the interneurons of the tap withdrawal response circuit are the locus of plasticity for long-term mechanosensory habituation in C. elegans. ..
  20. Lee D, Vazquez Chona F, Ferrell W, Tam B, Jones B, Marc R, et al. Dysmorphic photoreceptors in a P23H mutant rhodopsin model of retinitis pigmentosa are metabolically active and capable of regenerating to reverse retinal degeneration. J Neurosci. 2012;32:2121-8 pubmed publisher
    ..These dystrophic photoreceptors remain metabolically active despite having lost most of their outer segments. ..
  21. Cheng J, Klausen C, Leung P. Overexpression of wild-type but not C134W mutant FOXL2 enhances GnRH-induced cell apoptosis by increasing GnRH receptor expression in human granulosa cell tumors. PLoS ONE. 2013;8:e55099 pubmed publisher
    ..These results suggest that the FOXL2 402C>G mutation may contribute to the development of human adult-type GCTs by reducing the expression of GnRH receptor, thus conferring resistance to GnRH-induced cell apoptosis. ..
  22. Hadj Khodabakhshi A, Fejes A, Birol I, Jones S. Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline. BMC Bioinformatics. 2013;14:167 pubmed publisher
    ..sourceforge.net. Instructions for use and a tutorial are provided on the accompanying wiki pages at https://sourceforge.net/apps/mediawiki/vancouvershortr/index.php?title=Pipeline_introduction. ..
  23. Ahmad S, Glavas N, Bragg P. A mutation at Gly314 of the beta subunit of the Escherichia coli pyridine nucleotide transhydrogenase abolishes activity and affects the NADP(H)-induced conformational change. Eur J Biochem. 1992;207:733-9 pubmed
    ..The genes encoding the pyridine nucleotide transhydrogenase were completely resequenced and several corrections have been made to the previously published sequence [Clarke et al. (1986) Eur. J. Biochem. 158, 647-653]. ..
  24. Whitlock M, Bourguet D. Factors affecting the genetic load in Drosophila: synergistic epistasis and correlations among fitness components. Evolution. 2000;54:1654-60 pubmed
  25. Hirakata Y, Srikumar R, Poole K, Gotoh N, Suematsu T, Kohno S, et al. Multidrug efflux systems play an important role in the invasiveness of Pseudomonas aeruginosa. J Exp Med. 2002;196:109-18 pubmed
    ..We conclude that the P. aeruginosa MexAB-OprM efflux system exports virulence determinants that contribute to bacterial virulence. ..
  26. Kakani K, Robbins M, Rochon D. Evidence that binding of cucumber necrosis virus to vector zoospores involves recognition of oligosaccharides. J Virol. 2003;77:3922-8 pubmed
    ..Taken together, our studies suggest that binding of CNV to zoospores is mediated by specific mannose and/or fucose-containing oligosaccharides. This is the first time sugars have been implicated in transmission of a plant virus. ..
  27. Van Raamsdonk J, Pearson J, Bailey C, Rogers D, Johnson G, Hayden M, et al. Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease. J Neurochem. 2005;95:210-20 pubmed
    ..While the exact mechanism responsible for the beneficial effects of cystamine in YAC128 mice is uncertain, our findings suggest that cystamine is neuroprotective and may be beneficial in the treatment of HD...
  28. Thomas N, Deng W, Baker N, Puente J, Finlay B. Hierarchical delivery of an essential host colonization factor in enteropathogenic Escherichia coli. J Biol Chem. 2007;282:29634-45 pubmed
    ..Collectively, the results suggest a coordinated mechanism involving both Tir and CesT for type III effector injection into host cells. ..
  29. Wang S, Barron C, Schiefelbein J, Chen J. Distinct relationships between GLABRA2 and single-repeat R3 MYB transcription factors in the regulation of trichome and root hair patterning in Arabidopsis. New Phytol. 2010;185:387-400 pubmed publisher
    ..These findings reveal distinct relationships between GL2 and single MYBs in the regulation of trichome vs root hair development, and provide new insights into the molecular mechanism of epidermal patterning. ..
  30. Schrader K, Gorbatcheva B, Senz J, Heravi Moussavi A, Melnyk N, Salamanca C, et al. The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors. PLoS ONE. 2009;4:e7988 pubmed publisher
    ..402C>G mutation in FOXL2 is not commonly found in a wide variety of other cancers and therefore it is likely pathognomonic for A-GCTs and closely related tumors. ..
  31. Malhotra S, Cook V, Wolfe J, Tang P, Elwood K, Sharma M. A mutation in Mycobacterium tuberculosis rpoB gene confers rifampin resistance in three HIV-TB cases. Tuberculosis (Edinb). 2010;90:152-7 pubmed publisher
    ..These factors may have played a role in the development of this previously undocumented mutation...
  32. Brodehl A, Ferrier R, Hamilton S, Greenway S, Brundler M, Yu W, et al. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Hum Mutat. 2016;37:269-79 pubmed publisher
    ..Thus, FLNC is a disease gene for autosomal-dominant RCM and broadens the phenotype spectrum of filaminopathies. ..
  33. Bennett J, Tan T, Alcantara D, Tétrault M, Timms A, Jensen D, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016;98:579-587 pubmed publisher
    ..In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis. ..
  34. McCormick C, Duncan G, Goutsos K, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000;97:668-73 pubmed
    ..These findings provide a rationale to explain how inherited mutations in either of the two EXT genes can cause loss of activity, resulting in hereditary multiple exostoses...
  35. Cheung I, Schertzer M, Rose A, Lansdorp P. Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA. Nat Genet. 2002;31:405-9 pubmed
    ..We propose that DOG-1 is required to resolve the secondary structures of guanine-rich DNA that occasionally form during lagging-strand DNA synthesis. ..
  36. Singaraja R, Kang M, Vaid K, Sanders S, Vilas G, Arstikaitis P, et al. Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function. Circ Res. 2009;105:138-47 pubmed publisher
    ..Thus, palmitoylation regulates ABCA1 localization at the plasma membrane, and regulates its lipid efflux ability...
  37. Kimlicka L, Lau K, Tung C, Van Petegem F. Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013;4:1506 pubmed publisher
  38. Morin R, Mungall K, Pleasance E, Mungall A, Goya R, Huff R, et al. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013;122:1256-65 pubmed publisher
    ..This study further improves our understanding of the processes and pathways involved in lymphomagenesis, and some of the pathways mutated here may indicate new avenues for therapeutic intervention. ..
  39. Leach E, van Karnebeek C, Townsend K, Tarailo Graovac M, Hukin J, Gibson W. Episodic ataxia associated with a de novo SCN2A mutation. Eur J Paediatr Neurol. 2016;20:772-6 pubmed publisher
    ..In addition, this case suggests that acetazolamide may be an effective treatment for some aspects of the phenotype in a broader range of channelopathy-related conditions. ..
  40. Utting O, Teh S, Teh H. T cells expressing receptors of different affinity for antigen ligands reveal a unique role for p59fyn in T cell development and optimal stimulation of T cells by antigen. J Immunol. 1998;160:5410-9 pubmed
    ..Thus, Fyn plays a role during thymocyte development and is required for optimal responses to low affinity/avidity ligands. ..
  41. Park K, Vincent I. Presymptomatic biochemical changes in hindlimb muscle of G93A human Cu/Zn superoxide dismutase 1 transgenic mouse model of amyotrophic lateral sclerosis. Biochim Biophys Acta. 2008;1782:462-8 pubmed publisher
    ..These early muscle changes raise the possibility that the progressive deterioration of muscle function is potentiated by altered muscle biochemistry in these mice at a very young, presymptomatic age. ..
  42. Chen S, Khanna R, Bessette D, Samayawardhena L, Pallen C. Protein tyrosine phosphatase-alpha complexes with the IGF-I receptor and undergoes IGF-I-stimulated tyrosine phosphorylation that mediates cell migration. Am J Physiol Cell Physiol. 2009;297:C133-9 pubmed publisher
  43. Park D, Jones K, Lee H, Snutch T, Taubert S, Riddle D. Repression of a potassium channel by nuclear hormone receptor and TGF-? signaling modulates insulin signaling in Caenorhabditis elegans. PLoS Genet. 2012;8:e1002519 pubmed publisher
    ..elegans. NHR-69 and DAF-8 dependent regulation of exp-2 and DAF-28 also provides a novel molecular mechanism that contributes to the previously recognized link between insulin and TGF-? signaling in C. elegans. ..
  44. Barclay S, Rand C, Gray P, Gibson W, Wilson R, Berry Kravis E, et al. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016;221:59-63 pubmed publisher
    ..No rare or novel mutations were identified in the exons of HCRT, HCRTR1, or HCRTR2 genes in a set of 16 ROHHAD patients. ROHHAD is highly unlikely to be caused by mutations in the exons of the genes for hypocretin and its two receptors. ..
  45. Wu W, Molday R. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003;278:28139-46 pubmed
  46. Guilbault B, Kay R. RasGRP1 sensitizes an immature B cell line to antigen receptor-induced apoptosis. J Biol Chem. 2004;279:19523-30 pubmed
  47. Campos E, Martinka M, Mitchell D, Dai D, Li G. Mutations of the ING1 tumor suppressor gene detected in human melanoma abrogate nucleotide excision repair. Int J Oncol. 2004;25:73-80 pubmed
    ..Taken together, our data indicate that ING1 mutations abrogate its enhancement in nucleotide excision repair. ..
  48. 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. ..
  49. Pugh T, Bebb G, Barclay L, Sutcliffe M, Fee J, Salski C, et al. Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients. BMC Cancer. 2007;7:128 pubmed
    ..However, validation of these features in a larger sample set is appropriate. Identification of additional predictive biomarkers beyond EGFR status may be necessary to accurately predict treatment outcome. ..
  50. Lévesque N, Leung G, Fok A, Schmidt T, Kobor M. Loss of H3 K79 trimethylation leads to suppression of Rtt107-dependent DNA damage sensitivity through the translesion synthesis pathway. J Biol Chem. 2010;285:35113-22 pubmed publisher
    ..These data revealed a multifaceted functional relationship between Rtt107 and Dot1 in the DNA damage response and maintenance of genome integrity. ..
  51. Tapia L, Milnerwood A, Guo A, Mills F, Yoshida E, Vasuta C, et al. Progranulin deficiency decreases gross neural connectivity but enhances transmission at individual synapses. J Neurosci. 2011;31:11126-32 pubmed publisher
    ..Our observations show that PGRN knockdown severely alters neuronal connectivity in vitro and that the synaptic vesicle phenotype observed in culture is consistent with that observed in the hippocampus of FTD patients. ..
  52. Al Thihli K, Ebrahim H, Hughes D, Patel M, Tipple M, Salvarinova R, et al. A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy. Gene. 2012;497:320-2 pubmed publisher
  53. Ma L, Ho K, Piggott N, Luo Z, Measday V. Interactions between the kinetochore complex and the protein kinase A pathway in Saccharomyces cerevisiae. G3 (Bethesda). 2012;2:831-41 pubmed publisher
    ..Overall, our data suggest that the increased protein kinase A activity in kinetochore mutants is detrimental to cellular growth and chromosome transmission fidelity. ..
  54. Gurung A, Hung T, Morin J, Gilks C. Molecular abnormalities in ovarian carcinoma: clinical, morphological and therapeutic correlates. Histopathology. 2013;62:59-70 pubmed publisher
    ..This review summarizes the molecular abnormalities of these five ovarian carcinoma subtypes, relating them to clinical and pathological features. ..
  55. Maciejewski W. Reproductive value in graph-structured populations. J Theor Biol. 2014;340:285-93 pubmed publisher
    ..The introduction of reproductive value permits the calculation of the fixation probability of a mutant in a neutral evolutionary process in any graph-structured population for either the moran birth-death or death-birth process. ..
  56. Hexter A, Jones A, Joe H, Heap L, Smith M, Wallace A, et al. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. J Med Genet. 2015;52:699-705 pubmed publisher
    ..Continuing advances in molecular diagnosis, imaging and treatment of NF2-associated tumours offer hope for even better survival in the future. ..
  57. Wellington C, Ellerby L, Gutekunst C, Rogers D, Warby S, Graham R, et al. Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J Neurosci. 2002;22:7862-72 pubmed
  58. Park D, Estevez A, Riddle D. Antagonistic Smad transcription factors control the dauer/non-dauer switch in C. elegans. Development. 2010;137:477-85 pubmed publisher
    ..In the adult, DAF-8 downregulates lag-2 expression in the distal tip cells, thus promoting germ line meiosis. This function does not involve DAF-3, thereby avoiding the feedback loop that functions in the dauer switch. ..
  59. Leavitt B, Guttman J, Hodgson J, Kimel G, Singaraja R, Vogl A, et al. Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet. 2001;68:313-24 pubmed
    ..These data provide the first direct in vivo evidence of a role for wild-type htt in decreasing the cellular toxicity of mutant htt. ..
  60. Ross C, Twisk J, Meulenberg J, Liu G, van den Oever K, Moraal E, et al. Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation. Hum Gene Ther. 2004;15:906-19 pubmed
    ..We therefore conclude that AAV1-mediated transfer of LPL(S447X) into murine skeletal muscle results in long-term near-correction of dyslipidemia associated with LPL deficiency. ..
  61. 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. ..
  62. Lai C, Kunst L, Jetter R. Composition of alkyl esters in the cuticular wax on inflorescence stems of Arabidopsis thaliana cer mutants. Plant J. 2007;50:189-96 pubmed
    ..We conclude that alcohol levels at the site of biosynthesis are mainly limiting the ester formation in the Arabidopsis wild-type epidermis. ..
  63. Kim S, Grienenberger E, Lallemand B, Colpitts C, Kim S, Souza C, et al. LAP6/POLYKETIDE SYNTHASE A and LAP5/POLYKETIDE SYNTHASE B encode hydroxyalkyl ?-pyrone synthases required for pollen development and sporopollenin biosynthesis in Arabidopsis thaliana. Plant Cell. 2010;22:4045-66 pubmed publisher
    ..These results show that hydroxylated ?-pyrone polyketide compounds generated by the sequential action of ACOS5 and PKSA/B are potential and previously unknown sporopollenin precursors. ..
  64. Chen M, Gallipoli P, DeGeer D, Sloma I, Forrest D, Chan M, et al. Targeting primitive chronic myeloid leukemia cells by effective inhibition of a new AHI-1-BCR-ABL-JAK2 complex. J Natl Cancer Inst. 2013;105:405-23 pubmed publisher
    ..Simultaneously targeting BCR-ABL and JAK2 activities in CML stem/progenitor cells may improve outcomes in patients destined to develop IM resistance. ..
  65. Baronas V, Yang R, Vilin Y, Kurata H. Determinants of frequency-dependent regulation of Kv1.2-containing potassium channels. Channels (Austin). 2016;10:158-66 pubmed publisher
    ..These findings extend the conclusions of our recent demonstration of use-dependent activation of Kv1.2-containing channels in hippocampal neurons, by adding new details about the molecular mechanism underlying this effect. ..
  66. Westhoff M, Murray C, Eldstrom J, Fedida D. Photo-Cross-Linking of IKs Demonstrates State-Dependent Interactions between KCNE1 and KCNQ1. Biophys J. 2017;113:415-425 pubmed publisher
  67. Zheng H, Rowland O, Kunst L. Disruptions of the Arabidopsis Enoyl-CoA reductase gene reveal an essential role for very-long-chain fatty acid synthesis in cell expansion during plant morphogenesis. Plant Cell. 2005;17:1467-81 pubmed
    ..Cellular analysis revealed aberrant endocytic membrane traffic and defective cell expansion underlying the morphological defects of cer10 mutants. ..
  68. Zarivach R, Vuckovic M, Deng W, Finlay B, Strynadka N. Structural analysis of a prototypical ATPase from the type III secretion system. Nat Struct Mol Biol. 2007;14:131-7 pubmed
    ..We also show that T3SS ATPase activity is dependent on EscN oligomerization and describe the molecular features and possible functional implications of a hexameric ring model. ..
  69. Miklossy J, Qing H, Guo J, Yu S, Wszolek Z, Calne D, et al. Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation. Acta Neuropathol. 2007;114:243-54 pubmed
    ..The results indicate that Lrrk2 is linked to frontotemporal atrophy of PPND type caused by N279K tau mutation. They also show that chronic inflammation is involved in the pathogenesis of N279K/FTDP-17/PPND. ..
  70. Yam K, D Angelo I, Kalscheuer R, Zhu H, Wang J, Snieckus V, et al. Studies of a ring-cleaving dioxygenase illuminate the role of cholesterol metabolism in the pathogenesis of Mycobacterium tuberculosis. PLoS Pathog. 2009;5:e1000344 pubmed publisher
    ..These data provide insights into the binding of catechols by extradiol dioxygenases and facilitate inhibitor design. ..
  71. 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. ..
  72. Fisher C, Pineault N, Brookes C, Helgason C, Ohta H, Bodner C, et al. Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115:38-46 pubmed publisher
  73. Jones S, Laskin J, Li Y, Griffith O, An J, Bilenky M, et al. Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors. Genome Biol. 2010;11:R82 pubmed publisher
    ..These results also provide direct in vivo genomic evidence for mutational evolution within a tumor under drug selection and potential mechanisms of drug resistance accrual. ..
  74. Bhargava A, Mansfield S, Hall H, Douglas C, Ellis B. MYB75 functions in regulation of secondary cell wall formation in the Arabidopsis inflorescence stem. Plant Physiol. 2010;154:1428-38 pubmed publisher
  75. Stirling P, Chan Y, Minaker S, Aristizabal M, Barrett I, Sipahimalani P, et al. R-loop-mediated genome instability in mRNA cleavage and polyadenylation mutants. Genes Dev. 2012;26:163-75 pubmed publisher
    ..Our findings illuminate how mCP maintains genome integrity by suppressing R-loop formation and suggest that this function may be relevant to certain human cancers. ..
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