Experts and Doctors on mutation in Toronto, Ontario, Canada


Locale: Toronto, Ontario, Canada
Topic: mutation

Top Publications

  1. Cutler S, Ghassemian M, Bonetta D, Cooney S, McCourt P. A protein farnesyl transferase involved in abscisic acid signal transduction in Arabidopsis. Science. 1996;273:1239-41 pubmed
    ..The era1 mutants suggest that a negative regulator of ABA sensitivity must be acted on by a farnesyl transferase to function. ..
  2. Woo M, Hakem R, Soengas M, Duncan G, Shahinian A, Kagi D, et al. Essential contribution of caspase 3/CPP32 to apoptosis and its associated nuclear changes. Genes Dev. 1998;12:806-19 pubmed
    ..Together, these results indicate that CPP32 is an essential component in apoptotic events that is remarkably system- and stimulus-dependent. Consequently, drugs that inhibit CPP32 may preferentially disrupt specific forms of cell death. ..
  3. Schapiro F, Sparkowski J, Adduci A, Suprynowicz F, Schlegel R, Grinstein S. Golgi alkalinization by the papillomavirus E5 oncoprotein. J Cell Biol. 2000;148:305-15 pubmed
    ..We conclude that alkalinization of the Golgi complex represents a new biological activity of the E5 oncoprotein that correlates with cellular transformation. ..
  4. Melnyk R, Partridge A, Deber C. Transmembrane domain mediated self-assembly of major coat protein subunits from Ff bacteriophage. J Mol Biol. 2002;315:63-72 pubmed
  5. Loo T, Bartlett M, Clarke D. Introduction of the most common cystic fibrosis mutation (Delta F508) into human P-glycoprotein disrupts packing of the transmembrane segments. J Biol Chem. 2002;277:27585-8 pubmed
    ..These results show that deletion at residue 490 disrupts packing of the TM segments possibly by affecting interaction between the first nucleotide-binding domain (Tyr(490)) and the first cytoplasmic loop (Glu(184)). ..
  6. Cleary S, Zhang W, Di Nicola N, Aronson M, Aube J, Steinman A, et al. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res. 2003;63:1769-71 pubmed
  7. Sinasac D, Moriyama M, Jalil M, Begum L, Li M, Iijima M, et al. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol Cell Biol. 2004;24:527-36 pubmed
    ..These observations are compatible, however, with the variable age of onset, incomplete penetrance, and strong ethnic bias seen in CTLN2 where additional environmental and/or genetic triggers are now suspected...
  8. Mastracci T, Tjan S, Bane A, O Malley F, Andrulis I. E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast. Mod Pathol. 2005;18:741-51 pubmed
    ..These cases lacking both protein expression and gene alterations suggest that another mechanism is involved, possibly as early as at the hyperplastic stage, causing silencing of the E-cadherin complex. ..
  9. Macleod G, Chen L, Karunanithi S, Peloquin J, Atwood H, McRory J, et al. The Drosophila cacts2 mutation reduces presynaptic Ca2+ entry and defines an important element in Cav2.1 channel inactivation. Eur J Neurosci. 2006;23:3230-44 pubmed
    ..1 channel inactivation. ..

More Information

Publications499 found, 100 shown here

  1. Chen J, Ren H, Shaw J, Wang Y, Li M, Leung A, et al. Lsr2 of Mycobacterium tuberculosis is a DNA-bridging protein. Nucleic Acids Res. 2008;36:2123-35 pubmed publisher
    ..DNA bridging by Lsr2 also provides a mechanism of transcriptional regulation by Lsr2. ..
  2. Pei Y, Obaji J, Dupuis A, Paterson A, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009;20:205-12 pubmed publisher
    ..These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed. ..
  3. Alberts P, Rotin D. Regulation of lipid droplet turnover by ubiquitin ligases. BMC Biol. 2010;8:94 pubmed publisher
    ..A deficiency of spartin apparently causes lipid droplets to accumulate. ..
  4. Cain J, Islam E, Haxho F, Blake J, Rosenblum N. GLI3 repressor controls functional development of the mouse ureter. J Clin Invest. 2011;121:1199-206 pubmed publisher
    ..Together, these data demonstrate that Hh signaling controls Kit and Hcn3 expression and ureter peristalsis. ..
  5. Shi G, Lee J, Grimes D, Racacho L, Ye D, Yang H, et al. Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease. Hum Mol Genet. 2011;20:1966-74 pubmed publisher
    ..This PARL mutant is not sufficient to rescue PARKIN recruitment, suggesting that impaired mitophagy may be an underlying mechanism of disease pathogenesis in patients with PARL mutations. ..
  6. Hong H, Nadesan P, Poon R, Alman B. Testosterone regulates cell proliferation in aggressive fibromatosis (desmoid tumour). Br J Cancer. 2011;104:1452-8 pubmed publisher
    ..Testosterone regulates ?-catenin protein level and proliferation rate in this mesenchymal tumour. This work identifies the therapeutic use of testosterone blockade in aggressive fibromatosis as an area for further investigation. ..
  7. Wu A, Dalvi P, Lu X, Yang M, Riddick D, Matthews J, et al. Induction of multidrug resistance transporter ABCG2 by prolactin in human breast cancer cells. Mol Pharmacol. 2013;83:377-88 pubmed publisher
    ..We conclude that the JAK2/STAT5 pathway is required but not sufficient for the induction of ABCG2 by PRL...
  8. Kuruganti S, Miersch S, Deshpande A, Speir J, Harris B, Schriewer J, et al. Cytokine Activation by Antibody Fragments Targeted to Cytokine-Receptor Signaling Complexes. J Biol Chem. 2016;291:447-61 pubmed publisher
    ..This suggests AcCS can be used to manipulate cytokine signaling for basic science and possibly for therapeutic applications. ..
  9. Chen B, Rigat B, Curry C, Mahuran D. Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am J Hum Genet. 1999;65:77-87 pubmed
  10. Baetz K, Moffat J, Haynes J, Chang M, Andrews B. Transcriptional coregulation by the cell integrity mitogen-activated protein kinase Slt2 and the cell cycle regulator Swi4. Mol Cell Biol. 2001;21:6515-28 pubmed
    ..Our results establish a new Slt2-dependent mode of Swi4 regulation and suggest roles for Swi4 beyond its prominent role in controlling cell cycle transcription. ..
  11. Pellikka M, Tanentzapf G, Pinto M, Smith C, McGlade C, Ready D, et al. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis. Nature. 2002;416:143-9 pubmed
    ..Defects in such scaffolds may contribute to human CRB1-related retinal dystrophies. ..
  12. Leng R, Lin Y, Ma W, Wu H, Lemmers B, Chung S, et al. Pirh2, a p53-induced ubiquitin-protein ligase, promotes p53 degradation. Cell. 2003;112:779-91 pubmed
    ..Hence, Pirh2, like Mdm2, participates in an autoregulatory feedback loop that controls p53 function. ..
  13. Xu F, Morin C, Mitchell G, Ackerley C, Robinson B. The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. Biochem J. 2004;382:331-6 pubmed
    ..A more diffuse distribution of LRPPRC in LSFC cells compared with controls was evident when viewed by immunofluorescence microscopy, with less LRPPRC present in peripheral mitochondria...
  14. Gerth C, Zawadzki R, Werner J, Heon E. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res. 2008;48:392-9 pubmed
    ..This is the first report of in-vivo micro-structural analysis of retinal layers in patients with BBS. Mutations in different BBS genes seem to be associated with similar micro-structural changes in retinal layers. ..
  15. Marras C, Klein C, Lang A, Wakutani Y, Moreno D, Sato C, et al. LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation. Neurobiol Aging. 2010;31:721-2 pubmed publisher
    ..In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone. ..
  16. Riley L, Weadge J, Baker P, Robinson H, Codée J, Tipton P, et al. Structural and functional characterization of Pseudomonas aeruginosa AlgX: role of AlgX in alginate acetylation. J Biol Chem. 2013;288:22299-314 pubmed publisher
    ..Our results provide the first structural insight for a wide group of closely related bacterial polysaccharide acetyltransferases. ..
  17. Jonker D, Karapetis C, Harbison C, O Callaghan C, Tu D, Simes R, et al. Epiregulin gene expression as a biomarker of benefit from cetuximab in the treatment of advanced colorectal cancer. Br J Cancer. 2014;110:648-55 pubmed publisher
    ..Epiregulin as a selective biomarker requires further evaluation. ..
  18. 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. ..
  19. Zhang S, Chang M, Zylka D, Turley S, Harrison R, Turley E. The hyaluronan receptor RHAMM regulates extracellular-regulated kinase. J Biol Chem. 1998;273:11342-8 pubmed
    ..Consistent with this, overexpression of RHAMMv4 constitutively activates ERK. These results identify a novel mechanism for the regulation of the Ras-ERK signaling pathway and suggest that RHAMM plays multiple roles in this regulation. ..
  20. Nagy A, Moens C, Ivanyi E, Pawling J, Gertsenstein M, Hadjantonakis A, et al. Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles. Curr Biol. 1998;8:661-4 pubmed
    ..This, and the possibility of subsequent lineage-specific or conditional allele repair in situ, represent new genome modification strategies that can be used to investigate multiple functions of a single gene. ..
  21. Gill D, Klose R, Munier F, McFadden M, Priston M, Billingsley G, et al. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000;41:159-65 pubmed
    ..The CCL and the cerulean cataract are two distinct clinical entities associated with the same genetic defect. This work provides evidence for a modifier factor that influences cataract formation and that remains to be identified. ..
  22. Nagy A, Rossant J. Chimaeras and mosaics for dissecting complex mutant phenotypes. Int J Dev Biol. 2001;45:577-82 pubmed
    ..Our views on chimaeras presented below definitely contain elements which grew out from this principle. ..
  23. Quilty J, Li J, Reithmeier R. Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. Am J Physiol Renal Physiol. 2002;282:F810-20 pubmed
    ..The R589H dRTA mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1. ..
  24. Ianzano L, Zhang J, Chan E, Zhao X, Lohi H, Scherer S, et al. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum Mutat. 2005;26:397 pubmed
    ..The database, which currently contains 66 entries is accessible on the World Wide Web ( Entries can be submitted via the curator of the database or via a web-based form. ..
  25. Jorgensen P, Edgington N, Schneider B, Rupes I, Tyers M, Futcher B. The size of the nucleus increases as yeast cells grow. Mol Biol Cell. 2007;18:3523-32 pubmed
    ..Nuclear expansion must now be factored into conceptual and mathematical models of budding yeast growth and division. These results raise questions as to the unknown force(s) that expand the nucleus as yeast cells grow. ..
  26. Nakhamchik A, Wilde C, Rowe Magnus D. Cyclic-di-GMP regulates extracellular polysaccharide production, biofilm formation, and rugose colony development by Vibrio vulnificus. Appl Environ Microbiol. 2008;74:4199-209 pubmed publisher
    ..However, the EPS could not compensate for the loss of CPS production that is required for virulence. In contrast to V. cholerae, motility and virulence appeared unaffected by elevated levels of c-di-GMP. ..
  27. Slotte T, Foxe J, Hazzouri K, Wright S. Genome-wide evidence for efficient positive and purifying selection in Capsella grandiflora, a plant species with a large effective population size. Mol Biol Evol. 2010;27:1813-21 pubmed publisher
    ..Taken together, these results imply that both positive and purifying selection are more effective in C. grandiflora than in A. thaliana, consistent with the contrasting demographic history and effective population sizes of these species...
  28. Calmettes C, Yu R, Silva L, Curran D, Schriemer D, Schryvers A, et al. Structural variations within the transferrin binding site on transferrin-binding protein B, TbpB. J Biol Chem. 2011;286:12683-92 pubmed publisher
  29. Pak J, Satkunarajah M, Seetharaman J, Rini J. Structural and mechanistic characterization of leukocyte-type core 2 ?1,6-N-acetylglucosaminyltransferase: a metal-ion-independent GT-A glycosyltransferase. J Mol Biol. 2011;414:798-811 pubmed publisher
    ..Notably, R378 and K401 appear to function in a manner similar to that of the arginine and lysine residues contained in the RX(4-5)K motif found in the retaining GT-B glycosyltransferases. ..
  30. Rao C, Benhabib H, Ensminger A. Phylogenetic reconstruction of the Legionella pneumophila Philadelphia-1 laboratory strains through comparative genomics. PLoS ONE. 2013;8:e64129 pubmed publisher
  31. van Gool I, Stelloo E, Nout R, Nijman H, Edmondson R, Church D, et al. Prognostic significance of L1CAM expression and its association with mutant p53 expression in high-risk endometrial cancer. Mod Pathol. 2016;29:174-81 pubmed publisher
    ..The high frequency of L1CAM expression in high-risk endometrial cancers suggests that it may also be a promising therapeutic target in this tumor subset. ..
  32. Manolson M, Wu B, Proteau D, Taillon B, Roberts B, Hoyt M, et al. STV1 gene encodes functional homologue of 95-kDa yeast vacuolar H(+)-ATPase subunit Vph1p. J Biol Chem. 1994;269:14064-74 pubmed
    ..The function of these 100-kDa homologues may be to target or regulate other common V-ATPase subunits for two distinct cellular locations. ..
  33. Gerlai R, Millen K, Herrup K, Fabien K, Joyner A, Roder J. Impaired motor learning performance in cerebellar En-2 mutant mice. Behav Neurosci. 1996;110:126-33 pubmed
  34. Zhang K, Nowak I, Rushlow D, Gallie B, Lohmann D. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mutat. 2008;29:475-84 pubmed publisher
    ..However, the location of a mutation relative to the splice sequence has a strong and consistent influence on phenotypic expression. ..
  35. Yang J, Bachrati C, Ou J, Hickson I, Brown G. Human topoisomerase IIIalpha is a single-stranded DNA decatenase that is stimulated by BLM and RMI1. J Biol Chem. 2010;285:21426-36 pubmed publisher
  36. Alkhouri B, Denning R, Kim Chiaw P, Eckford P, Yu W, Li C, et al. Synthesis and properties of molecular probes for the rescue site on mutant cystic fibrosis transmembrane conductance regulator. J Med Chem. 2011;54:8693-701 pubmed publisher
    ..This understanding can in turn aid in the design and development of more efficacious compounds which may serve as therapeutic agents in the treatment of cystic fibrosis...
  37. Desai R, Sarpal R, Ishiyama N, Pellikka M, Ikura M, Tepass U. Monomeric ?-catenin links cadherin to the actin cytoskeleton. Nat Cell Biol. 2013;15:261-73 pubmed publisher
  38. Chen M, Tomkins D, Auerbach W, McKerlie C, Youssoufian H, Liu L, et al. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet. 1996;12:448-51 pubmed
    ..Homozygous male and female mice also had compromised gametogenesis, leading to markedly impaired fertility, a characteristic of FA patients. Thus, inactivation of Fac replicates some of the features of the human disease. ..
  39. Asahi M, Kimura Y, Kurzydlowski K, Tada M, MacLennan D. Transmembrane helix M6 in sarco(endo)plasmic reticulum Ca(2+)-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites. J Biol Chem. 1999;274:32855-62 pubmed
    ..Thus, both functional and physical data confirm that PLN interacts with M6 SERCA1a. ..
  40. Kobor M, Simon L, Omichinski J, Zhong G, Archambault J, Greenblatt J. A motif shared by TFIIF and TFIIB mediates their interaction with the RNA polymerase II carboxy-terminal domain phosphatase Fcp1p in Saccharomyces cerevisiae. Mol Cell Biol. 2000;20:7438-49 pubmed
    ..These results suggest strongly that this KEFGK motif in RAP74 mediates its interaction with Fcp1p in vivo. ..
  41. Karunanithi S, Marin L, Wong K, Atwood H. Quantal size and variation determined by vesicle size in normal and mutant Drosophila glutamatergic synapses. J Neurosci. 2002;22:10267-76 pubmed
    ..Thus functional differences in synaptic strength among glutamatergic neurons of Drosophila result in part from intrinsic differences in vesicle size. ..
  42. Costanzo M, Schub O, Andrews B. G1 transcription factors are differentially regulated in Saccharomyces cerevisiae by the Swi6-binding protein Stb1. Mol Cell Biol. 2003;23:5064-77 pubmed
    ..Chromatin immunoprecipitation experiments confirm that Stb1 localizes to promoters of MBF-regulated genes. Our data indicate that, contrary to previous models, MBF and SBF have unique components and might be distinctly regulated. ..
  43. Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray P, et al. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A. 2004;124A:142-7 pubmed
    ..Twenty-five carriers were found from 1,423 samples yielding a carrier rate of 1:57, differing from the widely quoted frequency of 1:40 and supporting our observed frequency of disease. ..
  44. Von Both I, Silvestri C, Erdemir T, Lickert H, Walls J, Henkelman R, et al. Foxh1 is essential for development of the anterior heart field. Dev Cell. 2004;7:331-45 pubmed
    ..Thus, Foxh1 and Nkx2-5 functionally interact and are essential for development of the AHF and its derivatives, the RV and OFT, in response to TGFbeta-like signals. ..
  45. Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann C, et al. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A. 2005;136:194-7 pubmed
    ..The child described here further delineates the clinical spectrum of CDG-IL and confirms the significant clinical overlap amongst CDG subtypes. ..
  46. Willoughby C, Shafiq A, Ferrini W, Chan L, Billingsley G, Priston M, et al. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005;11:587-93 pubmed
    ..X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis. ..
  47. Lew R, Levina N. Turgor regulation in the osmosensitive cut mutant of Neurospora crassa. Microbiology. 2007;153:1530-7 pubmed
    ..The results suggest that turgor regulation involves multi-faceted coordination of both ion flux and glycerol accumulation. Ion uptake is activated by a MAP kinase cascade, while CUT is required for glycerol accumulation. ..
  48. Robertson J, Sanelli T, Xiao S, Yang W, Horne P, Hammond R, et al. Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. Neurosci Lett. 2007;420:128-32 pubmed
    ..Our findings indicate that the process of motor neuron degeneration in mutant SOD1 transgenic mice is unlikely to involve the abnormalities of TDP-43 described in the human disease. ..
  49. Stollar E, Garcia B, Chong P, Rath A, Lin H, Forman Kay J, et al. Structural, functional, and bioinformatic studies demonstrate the crucial role of an extended peptide binding site for the SH3 domain of yeast Abp1p. J Biol Chem. 2009;284:26918-27 pubmed publisher
    ..Our data imply that the AbpSH3 must bind extended target sites to function efficiently inside the cell. ..
  50. Cameron J, Levandovskiy V, Mackay N, Utgikar R, Ackerley C, Chiasson D, et al. Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. Mol Genet Metab. 2009;98:378-82 pubmed publisher
    ..Children with abnormal cardiac responses to increased workloads as well as those with defined myocardial disease should therefore be tested for GYS1 deficiency. ..
  51. Vallipuram J, Grenville J, Crawford D. The E646D-ATP13A4 mutation associated with autism reveals a defect in calcium regulation. Cell Mol Neurobiol. 2010;30:233-46 pubmed publisher
    ..Overall, this study provides support for the hypothesis that ATP13A4 may play a vital role in the developing nervous system and its impairment can contribute to the symptoms seen in ASD. ..
  52. Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson E, et al. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet. 2011;20:2116-30 pubmed publisher
    ..Although these mutations cause widespread and important splicing defects, they are likely tolerated by the majority of human tissues but are critical for retinal cell survival...
  53. Walker E, Zhang C, Castelo Branco P, Hawkins C, Wilson W, Zhukova N, et al. Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumors. Cancer Res. 2012;72:636-44 pubmed publisher
    ..Further exploration of MAE at relevant genes may contribute to better understanding of tumor development and determine survival in brain tumor patients. ..
  54. Sellings L, Pereira S, Qian C, Dixon McDougall T, Nowak C, Zhao B, et al. Nicotine-motivated behavior in Caenorhabditis elegans requires the nicotinic acetylcholine receptor subunits acr-5 and acr-15. Eur J Neurosci. 2013;37:743-56 pubmed publisher
  55. Bastin G, Heximer S. Rab family proteins regulate the endosomal trafficking and function of RGS4. J Biol Chem. 2013;288:21836-49 pubmed publisher
    ..Thus, Rab GTPases may be novel molecular targets for the selective regulation of M1R-mediated signaling via their specific effects on RGS4 trafficking and function. ..
  56. Estey M, Di Ciano Oliveira C, Froese C, Fung K, Steels J, Litchfield D, et al. Mitotic regulation of SEPT9 protein by cyclin-dependent kinase 1 (Cdk1) and Pin1 protein is important for the completion of cytokinesis. J Biol Chem. 2013;288:30075-86 pubmed publisher
    ..These results suggest that SEPT9 plays multiple roles in abscission, one of which is regulated by the action of Cdk1 and Pin1. ..
  57. Malhotra S, Hart K, Klamut H, Thomas N, Bodrug S, Burghes A, et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 1988;242:755-9 pubmed
    ..In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested. ..
  58. Yeh E, Dermer M, Commisso C, Zhou L, McGlade C, Boulianne G. Neuralized functions as an E3 ubiquitin ligase during Drosophila development. Curr Biol. 2001;11:1675-9 pubmed
    ..These data suggest that the role of Neu is to target components of the N-Dl pathway for ubiquitination, allowing for propagation and/or regulation of the signal. ..
  59. Smith M, Collins R. Evidence for proton transfer in the rate-limiting step of a fast-cleaving Varkud satellite ribozyme. Proc Natl Acad Sci U S A. 2007;104:5818-23 pubmed
    ..These results suggest that the RG ribozyme provides a good experimental system to investigate the nature of fast, rate-limiting steps in a ribozyme cleavage reaction. ..
  60. Fidler L, Wilson G, Liu F, Cui X, Scherer S, Taylor G, et al. Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med. 2009;13:4219-28 pubmed publisher
    ..Reduced connexin43 expression and localization to the intercalated disk occurs in heterozygous human PKP-2 mutations, potentially explaining the delayed conduction and propensity to develop arrhythmias seen in this disease. ..
  61. Glozman R, Okiyoneda T, Mulvihill C, Rini J, Barriere H, Lukacs G. N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic. J Cell Biol. 2009;184:847-62 pubmed publisher
  62. Sheikh T, Mittal K, Willis M, Vincent J. A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. Orphanet J Rare Dis. 2013;8:108 pubmed publisher
    ..These findings suggest that synonymous variants of MECP2 as well as other known disease genes-and de novo variants in particular- should be re-evaluated for potential effects on splicing. ..
  63. Gawand P, Hyland P, Ekins A, Martin V, Mahadevan R. Novel approach to engineer strains for simultaneous sugar utilization. Metab Eng. 2013;20:63-72 pubmed publisher
    ..Furthermore, sequencing studies on the genes involved in CCR showed that the mechanism for co-utilization of the sugars could be different from previously known mechanisms. ..
  64. Lai A, Lan C, Hasan S, Brown M, McLaurin J. scyllo-Inositol promotes robust mutant Huntingtin protein degradation. J Biol Chem. 2014;289:3666-76 pubmed publisher
    ..The rescue of degradation pathways was not a direct result of scyllo-inositol on the lysosome or proteasome but due to scyllo-inositol-induced reduction in mutant polyQ-Htt protein levels. ..
  65. Peterlongo P, Chang Claude J, Moysich K, Rudolph A, Schmutzler R, Simard J, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16 pubmed publisher
    ..Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ..
  66. Radulovich N, Leung L, Ibrahimov E, Navab R, Sakashita S, Zhu C, et al. Coiled-coil domain containing 68 (CCDC68) demonstrates a tumor-suppressive role in pancreatic ductal adenocarcinoma. Oncogene. 2015;34:4238-47 pubmed publisher
    ..In contrast, the downregulation of endogenous CCDC68 in MIAPaca-2 cells increased tumor growth rate. These effects were not observed with the deletion-containing isoform, CCDC68Δ(69-114). ..
  67. Hoffman L, DeWire M, Ryall S, Buczkowicz P, Leach J, Miles L, et al. Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics. Acta Neuropathol Commun. 2016;4:1 pubmed publisher
  68. Dogan S, Chute D, Xu B, Ptashkin R, Chandramohan R, Casanova Murphy J, et al. Frequent IDH2 R172 mutations in undifferentiated and poorly-differentiated sinonasal carcinomas. J Pathol. 2017;242:400-408 pubmed publisher
    ..Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
  69. Cymerman U, Vera S, Pece Barbara N, Bourdeau A, White R, Dunn J, et al. Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res. 2000;47:24-35 pubmed
  70. Macleod G, Hegström Wojtowicz M, Charlton M, Atwood H. Fast calcium signals in Drosophila motor neuron terminals. J Neurophysiol. 2002;88:2659-63 pubmed
  71. Sasaki M, Knobbe C, Itsumi M, Elia A, Harris I, Chio I, et al. D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function. Genes Dev. 2012;26:2038-49 pubmed publisher
    ..Our study presents strong in vivo evidence that the D2HG produced by the mutant Idh1 enzyme is responsible for the above effects...
  72. Jin S, Homsy J, Zaidi S, Lu Q, Morton S, Depalma S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49:1593-1601 pubmed publisher
    ..DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found. ..
  73. Mousses S, Ozcelik H, Lee P, Malkin D, Bull S, Andrulis I. Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. Hum Mol Genet. 1995;4:1089-92 pubmed
    ..006). These data suggest that the occurrence of the variants may have a direct effect on tumor development and may, in some cases, be incompatible with p53 mutations. ..
  74. Melet F, Motro B, Rossi D, Zhang L, Bernstein A. Generation of a novel Fli-1 protein by gene targeting leads to a defect in thymus development and a delay in Friend virus-induced erythroleukemia. Mol Cell Biol. 1996;16:2708-18 pubmed
  75. Kim J, Kim P, Hui C. The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet. 2001;59:306-15 pubmed
    ..We propose that VACTERL could be caused by defective Shh signaling during human embryogenesis and suggest that the Gli mutant mice can serve as useful models for studying the pathogenesis of VACTERL. ..
  76. Pickup A, Lamka M, Sun Q, Yip M, Lipshitz H. Control of photoreceptor cell morphology, planar polarity and epithelial integrity during Drosophila eye development. Development. 2002;129:2247-58 pubmed
  77. Shi W, Zhang X, Pintilie M, Ma N, Miller N, Banerjee D, et al. Dysregulated PTEN-PKB and negative receptor status in human breast cancer. Int J Cancer. 2003;104:195-203 pubmed
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