Experts and Doctors on mutation in Australia


Locale: Australia
Topic: mutation

Top Publications

  1. Ewart G, Cannell D, Cox G, Howells A. Mutational analysis of the traffic ATPase (ABC) transporters involved in uptake of eye pigment precursors in Drosophila melanogaster. Implications for structure-function relationships. J Biol Chem. 1994;269:10370-7 pubmed
    ..The implications of these mutations are discussed in terms of a model of the Drosophila pigment precursor transport system. ..
  2. Richards R. Fragile and unstable chromosomes in cancer: causes and consequences. Trends Genet. 2001;17:339-45 pubmed
    ..Mutation at fragile site loci might therefore have a causative role in cancer. Recent studies on one class of human chromosomal fragile sites show that instability at fragile site loci can functionally contribute to tumor cell biology. ..
  3. Lando D, Peet D, Whelan D, Gorman J, Whitelaw M. Asparagine hydroxylation of the HIF transactivation domain a hypoxic switch. Science. 2002;295:858-61 pubmed
    ..Full induction of HIF-1alpha and -2alpha, therefore, relies on the abrogation of both Pro and Asn hydroxylation, which during normoxia occur at the degradation and COOH-terminal transactivation domains, respectively. ..
  4. van Rijnsoever M, Elsaleh H, Joseph D, McCaul K, Iacopetta B. CpG island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage III colorectal cancer. Clin Cancer Res. 2003;9:2898-903 pubmed
    ..This molecular marker should be incorporated into prospective clinical trials of fluorouracil-based therapies to confirm its clinical value. ..
  5. Norgate M, Lee E, Southon A, Farlow A, Batterham P, Camakaris J, et al. Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7. Mol Biol Cell. 2006;17:475-84 pubmed
    ..DmATP7 displays a dynamic and unexpected expression pattern in the developing embryo, implying novel functions for this copper pump and the lethality observed in DmATP7 mutant flies is the earliest seen for any copper homeostasis gene. ..
  6. Saunderson R, Yu B, Trent R, Pamphlett R. A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. J Neurol Sci. 2008;267:125-8 pubmed
    ..Brain AR repeat length was not associated with the duration, or age or site of onset, of disease. The findings indicate that a brain-specific expansion of AR triplet repeats is unlikely to underlie motor neuron loss in SALS or SPMA. ..
  7. Brocardo M, Henderson B. APC shuttling to the membrane, nucleus and beyond. Trends Cell Biol. 2008;18:587-96 pubmed publisher
    ..The transport routes of APC overlap that of other tumor suppressors, including BRCA1 and p53, pin-pointing common destinations and functions for these cancer regulators. ..
  8. Kaur G, Jans D. Dual nuclear import mechanisms of sex determining factor SRY: intracellular Ca2+ as a switch. FASEB J. 2011;25:665-75 pubmed publisher
    ..The results imply mutual exclusivity of nuclear transport via the 2 NLSs with intracellular Ca(2+) as the switch between the 2. ..
  9. Bernoux M, Burdett H, Williams S, Zhang X, Chen C, Newell K, et al. Comparative Analysis of the Flax Immune Receptors L6 and L7 Suggests an Equilibrium-Based Switch Activation Model. Plant Cell. 2016;28:146-59 pubmed publisher

More Information

Publications275 found, 100 shown here

  1. Chan M, Hawkes K, Kim P. Evolution of longevity, age at last birth and sexual conflict with grandmothering. J Theor Biol. 2016;393:145-57 pubmed publisher
  2. Mashkani B, Tanipour M, Saadatmandzadeh M, Ashman L, Griffith R. FMS-like tyrosine kinase 3 (FLT3) inhibitors: Molecular docking and experimental studies. Eur J Pharmacol. 2016;776:156-66 pubmed publisher
    ..These findings can be applied in designing highly effective and selective inhibitors for FLT3 and other related kinases. ..
  3. Tiffen J, Wilson S, Gallagher S, Hersey P, Filipp F. Somatic Copy Number Amplification and Hyperactivating Somatic Mutations of EZH2 Correlate With DNA Methylation and Drive Epigenetic Silencing of Genes Involved in Tumor Suppression and Immune Responses in Melanoma. Neoplasia. 2016;18:121-32 pubmed publisher
    ..The identified changes in EZH2 were associated with an adverse prognosis in the TCGA dataset. These results suggest that inhibiting of EZH2 is a promising therapeutic avenue for a substantial fraction of melanoma patients. ..
  4. Van De Weghe J, Rusterholz T, Latour B, Grout M, Aldinger K, Shaheen R, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017;101:23-36 pubmed publisher
  5. Stanton J, Wilton S, Laing N. Characterisation of the chicken Cu,Zn superoxide dismutase gene. DNA Seq. 1996;6:357-60 pubmed
    ..This sequence was compared to SOD1 from bovine, human and Xenopus laevis. Important structural features of SOD1 are shown to be conserved in the chicken gene. ..
  6. Dry I, Yuan K, Hutton D. Dicarboximide resistance in field isolates of Alternaria alternata is mediated by a mutation in a two-component histidine kinase gene. Fungal Genet Biol. 2004;41:102-8 pubmed
    ..alternata isolates confirmed the presence of mutations leading to premature termination of the translated HK protein. The possible role of the two-component HK in the development of dicarboximide resistance in A. alternata is discussed. ..
  7. Mangs A, Speirs H, Goy C, Adams D, Markus M, Morris B. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. Nucleic Acids Res. 2006;34:4976-86 pubmed
    ..We have thus shown that the spliceosomal component XE7 resembles an SR-related splicing protein, and can influence alternative splicing. ..
  8. Arnold J, Choong D, Thompson E, Waddell N, Lindeman G, Visvader J, et al. Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors. Breast Cancer Res Treat. 2010;119:491-6 pubmed publisher
    ..It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination. ..
  9. Revill P, Yuen L, Walsh R, Perrault M, Locarnini S, Kramvis A. Bioinformatic analysis of the hepadnavirus e-antigen and its precursor identifies remarkable sequence conservation in all orthohepadnaviruses. J Med Virol. 2010;82:104-15 pubmed publisher
    ..Whilst much of this sequence conservation was within key immunomodulatory epitopes, highest conservation was observed at the unique HBeAg N-terminus, suggesting this sequence in particular may play an important role in HBeAg function...
  10. de Bock C, Lin Z, Mekkawy A, Byrne J, Wang Y. Interaction between urokinase receptor and heat shock protein MRJ enhances cell adhesion. Int J Oncol. 2010;36:1155-63 pubmed
    ..These data provide a novel mechanism by which uPAR plays a role in cell adhesion to vitronectin. ..
  11. Dulhunty A, Casarotto M, Beard N. The ryanodine receptor: a pivotal Ca2+ regulatory protein and potential therapeutic drug target. Curr Drug Targets. 2011;12:709-23 pubmed
  12. Todd J, Becker T, Kefford R, Rizos H. Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. Pigment Cell Melanoma Res. 2013;26:518-26 pubmed publisher
    ..Our data provide a rationale for treating patients with melanoma progressing on imatinib or nilotinib with alternative RTK inhibitors or inhibitors targeting the MAPK and PI3K signalling cascades. ..
  13. Arnal A, Tissot T, Ujvari B, Nunney L, Solary E, Laplane L, et al. The guardians of inherited oncogenic vulnerabilities. Evolution. 2016;70:1-6 pubmed publisher
    ..These contexts determine the locally predominant fitness-reducing risks, and hence can aid the prediction of how natural selection will influence cancer outcomes. ..
  14. Bateman J, Lamande S, Dahl H, Chan D, Cole W. Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem. 1988;263:11627-30 pubmed
    ..This mutation is consistent with the functional abnormalities of collagen observed in this case such as reduced helical stability, reduced secretion, increased degradation, and excessive posttranslational modification of lysine. ..
  15. Dong B, Rengel Z, Delhaize E. Uptake and translocation of phosphate by pho2 mutant and wild-type seedlings of Arabidopsis thaliana. Planta. 1998;205:251-6 pubmed
    ..We suggest that the pho2 phenotype could result from a partial defect in Pi transport in the phloem between shoots and roots or from an inability of shoot cells to regulate internal Pi concentrations. ..
  16. Peake P, Winter N, Britton W. Phosphorylation of Mycobacterium leprae heat-shock 70 protein at threonine 175 alters its substrate binding characteristics. Biochim Biophys Acta. 1998;1387:387-94 pubmed
    ..leprae Hsp70. Phosphorylation led to an increased affinity for a model polypeptide substrate, reduced and alkylated bovine albumin. These properties are compared with those of the DnaK protein of Escherichia coli...
  17. Delhaize E, Hebb D, Richards K, Lin J, Ryan P, Gardner R. Cloning and expression of a wheat (Triticum aestivum L.) phosphatidylserine synthase cDNA. Overexpression in plants alters the composition of phospholipids. J Biol Chem. 1999;274:7082-8 pubmed
    ..The cloning of TaPSS1 now provides evidence that the yeast pathway for PS synthesis exists in some plant tissues and provides a tool for understanding the pathways of phospholipid biosynthesis and their regulation in plants...
  18. Gedeon A, Colley A, Jamieson R, Thompson E, Rogers J, Sillence D, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet. 1999;22:400-4 pubmed
    ..The gene designated SEDL is transcribed as a 2.8-kb transcript in many tissues including fetal cartilage. SEDL encodes a 140 amino acid protein with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport. ..
  19. Weber B, Hopwood J, Yogalingam G. Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase. Protein Expr Purif. 2001;21:251-9 pubmed
    ..These results suggest that the use of secreted NAGLU in future enzyme and gene replacement therapy protocols will be severely limited due to its small degree of mannose-6-phosphorylation. ..
  20. Petravic J, Loh L, Kent S, Davenport M. CD4+ target cell availability determines the dynamics of immune escape and reversion in vivo. J Virol. 2008;82:4091-101 pubmed publisher
    ..This has important implications for comparative studies of immune escape and reversion in different infections and for identifying epitopes with high fitness cost for use as vaccine targets. ..
  21. Jacoby A, Busch Nentwich E, Bryson Richardson R, Hall T, Berger J, Berger S, et al. The zebrafish dystrophic mutant softy maintains muscle fibre viability despite basement membrane rupture and muscle detachment. Development. 2009;136:3367-76 pubmed publisher
    ..This demonstration of a muscular dystrophy model possessing innate fibre viability following muscle detachment suggests basement membrane augmentation as a therapeutic strategy to inhibit myofibre loss. ..
  22. Dong C, Vincent K, Sharp P. Simultaneous mutation detection of three homoeologous genes in wheat by High Resolution Melting analysis and Mutation Surveyor. BMC Plant Biol. 2009;9:143 pubmed publisher
    ..This method can also be used for SNP (single nucleotide polymorphism) marker development and eco-TILLING in polyploid species. ..
  23. Kuhn K, Carrie C, Giraud E, Wang Y, Meyer E, Narsai R, et al. The RCC1 family protein RUG3 is required for splicing of nad2 and complex I biogenesis in mitochondria of Arabidopsis thaliana. Plant J. 2011;67:1067-80 pubmed publisher
    ..This observation is consistent with global transcript changes indicating enhanced mitochondrial biogenesis in the rug3 mutant in response to the complex I defect. ..
  24. Cluning C, Ward B, Rea S, Arulpragasam A, Fuller P, Ratajczak T. The helix 1-3 loop in the glucocorticoid receptor LBD is a regulatory element for FKBP cochaperones. Mol Endocrinol. 2013;27:1020-35 pubmed publisher
  25. Phillips K, Milne R, Rookus M, Daly M, Antoniou A, Peock S, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2013;31:3091-9 pubmed publisher
    ..Further follow-up of these cohorts will provide increased statistical power for future prospective analyses. ..
  26. Böhm J, Scherzer S, Shabala S, Krol E, Neher E, Mueller T, et al. Venus Flytrap HKT1-Type Channel Provides for Prey Sodium Uptake into Carnivorous Plant Without Conflicting with Electrical Excitability. Mol Plant. 2016;9:428-436 pubmed publisher
    ..These structural and biophysical features of a high-capacity, Na(+)-selective ion channel enable Dionaea glands to manage prey-derived sodium loads without confounding the action potential-based information management of the flytrap. ..
  27. Clark Walker G, Hansbro P, Gibson F, Chen X. Mutant residues suppressing rho(0)-lethality in Kluyveromyces lactis occur at contact sites between subunits of F(1)-ATPase. Biochim Biophys Acta. 2000;1478:125-37 pubmed
    ..An explanation for suppressor activity of atp mutations is discussed in the context of a possible role for F(1)-ATPase in the maintenance of mitochondrial inner membrane potential. ..
  28. McCluskey M, Schiavello T, Hunter M, Hantke J, Angelicheva D, Bogdanova N, et al. Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. Hum Mutat. 2002;19:240-50 pubmed
    ..Three of the nine novel polymorphisms were missense mutations with a predicted effect on protein conformation, emphasizing the problems of interpretation in PKD1 mutation screening. ..
  29. Graham S, Lilley P, Lee M, Schaeffer P, Kralicek A, Dixon N, et al. Kinetic and crystallographic analysis of mutant Escherichia coli aminopeptidase P: insights into substrate recognition and the mechanism of catalysis. Biochemistry. 2006;45:964-75 pubmed
  30. Curtin S, Watson J, Smith N, Eamens A, Blanchard C, Waterhouse P. The roles of plant dsRNA-binding proteins in RNAi-like pathways. FEBS Lett. 2008;582:2753-60 pubmed publisher
    ..DCL2 and DCL3 produce viral siRNAs without requiring assistance from any dsRBP. DRB2, DRB3 and DRB5 appear unnecessary for mi-, tasi-, viral si-, or heterochromatinising siRNA production but act redundantly in a developmental pathway. ..
  31. Gallagher S, Thompson J, Indsto J, Scurr L, Lett M, Gao B, et al. p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. Neoplasia. 2008;10:1231-9 pubmed
    ..This study shows that high expression of p16(INK4a) or the absence of activated B-RAF correlates with in vivo response of melanoma to cytotoxic drugs. ..
  32. Subramanian S. Quantifying harmful mutations in human populations. Eur J Hum Genet. 2012;20:1320-2 pubmed publisher
    ..These results could be useful for genome-wide association studies in understanding the relative contributions of rare and common variants in causing human genetic diseases. ..
  33. Long G, Wilmott J, Capper D, Preusser M, Zhang Y, Thompson J, et al. Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. Am J Surg Pathol. 2013;37:61-5 pubmed publisher
    ..Clinical use of the V600E BRAF antibody should be a valuable supplement to conventional mutation testing and allow V600E mutant metastatic melanoma patients to be triaged rapidly into appropriate treatment pathways. ..
  34. Mills K, Brocardo M, Henderson B. APC binds the Miro/Milton motor complex to stimulate transport of mitochondria to the plasma membrane. Mol Biol Cell. 2016;27:466-82 pubmed publisher
    ..We propose that APC helps drive mitochondria to the membrane to supply energy for cellular processes such as directed cell migration, a process disrupted by cancer mutations. ..
  35. Moujalled D, Grubman A, Acevedo K, Yang S, Ke Y, Moujalled D, et al. TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway. Hum Mol Genet. 2017;26:1732-1746 pubmed publisher
    ..Our findings indicate that further exploration of the interplay between hnRNP K (or other hnRNPs) and Nrf2-mediated antioxidant signaling is warranted and may be an important driver for motor neuron degeneration in ALS. ..
  36. Chan D, Clarke S, Diakos C, Roach P, Bailey D, Singh S, et al. Prognostic and predictive biomarkers in neuroendocrine tumours. Crit Rev Oncol Hematol. 2017;113:268-282 pubmed publisher
    ..Further research should aim to establish robust new biomarkers and integrate existing ones to help optimise NET treatment. ..
  37. Notley McRobb L, Ferenci T. Adaptive mgl-regulatory mutations and genetic diversity evolving in glucose-limited Escherichia coli populations. Environ Microbiol. 1999;1:33-43 pubmed
    ..Increased fitness was accompanied by the generation of genetic diversity and not the evolution of a single winner clone, as predicted by the periodic selection model of bacterial populations. ..
  38. Reeves S, Rich D, Meldrum C, Colyvas K, Kurzawski G, Suchy J, et al. IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer. Int J Cancer. 2008;123:1339-43 pubmed publisher
    ..001). We conclude that the IGF1 CA repeat is an important modifier of disease onset in HNPCC and the first polymorphism to yield consistent results across different populations. ..
  39. Compton A, Albrecht D, Seto J, Cooper S, Ilkovski B, Jones K, et al. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008;83:714-24 pubmed publisher
    ..This disorder is part of the continuum in the clinical spectrum of congenital myopathies and congenital myasthenic syndromes...
  40. Carroll G, Sharma G, Upadhyay A, Jazayeri J. Ferritin concentrations in synovial fluid are higher in osteoarthritis patients with HFE gene mutations (C282Y or H63D). Scand J Rheumatol. 2010;39:413-20 pubmed publisher
    ..Accordingly, it was predicted that the concentration of ferritin in synovial fluid (SF) would be higher in OA patients with HFE gene mutations than in HFE wild-type (wt) OA patients. The aim of this study was to test this proposition...
  41. Dutton Regester K, Aoude L, Nancarrow D, Stark M, O Connor L, Lanagan C, et al. Identification of TFG (TRK-fused gene) as a putative metastatic melanoma tumor suppressor gene. Genes Chromosomes Cancer. 2012;51:452-61 pubmed publisher
    ..Mutations in TFG may have important clinical relevance for current therapeutic strategies to treat metastatic melanoma. ..
  42. McInerney Leo A, Schmidts M, Cortés C, Leo P, Gener B, Courtney A, et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 2013;93:515-23 pubmed publisher
    ..These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. ..
  43. Birch R, Pemberton J, Basnayake W. Stable albicidin resistance in Escherichia coli involves an altered outer-membrane nucleoside uptake system. J Gen Microbiol. 1990;136:51-8 pubmed
    ..Albicidin resistance results from loss of the mechanism of albicidin transport through the outer membrane. ..
  44. Paravicini T, Chubanov V, Gudermann T. TRPM7: a unique channel involved in magnesium homeostasis. Int J Biochem Cell Biol. 2012;44:1381-4 pubmed publisher
    ..We will then discuss the biological functions of TRPM7, emphasizing its role in development and the potential pathophysiological significance of TRPM7 in neurological and cardiovascular disease. ..
  45. Sadras T, Heatley S, Kok C, Dang P, Galbraith K, McClure B, et al. Differential expression of MUC4, GPR110 and IL2RA defines two groups of CRLF2-rearranged acute lymphoblastic leukemia patients with distinct secondary lesions. Cancer Lett. 2017;408:92-101 pubmed publisher
  46. Uhlin U, Cox G, Guss J. Crystal structure of the epsilon subunit of the proton-translocating ATP synthase from Escherichia coli. Structure. 1997;5:1219-30 pubmed
    ..This suggests that a gross conformational change in the epsilon subunit, to transmit the effect of proton translocation to the catalytic domain, is unlikely, but cannot be ruled out. ..
  47. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 2004;41:155-60 pubmed
    ..Also apparent is the need for further investigation to identify additional genes associated with FIHP. ..
  48. Young J, Barker M, Simms L, Walsh M, Biden K, Buchanan D, et al. Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol. 2005;3:254-63 pubmed
    ..High levels of BRAF mutation and MINT31 hypermethylation suggest an origin in the serrated pathway of CRC development. ..
  49. Humphries J, Walker A, Timmis J, Orford S. Two WD-repeat genes from cotton are functional homologues of the Arabidopsis thaliana TRANSPARENT TESTA GLABRA1 (TTG1) gene. Plant Mol Biol. 2005;57:67-81 pubmed publisher
    ..These results demonstrate parallels in differentiation between trichomes in cotton and Arabidopsis, and indicate that these cotton genes may be functional homologues of AtTTG1...
  50. Lambert G, Charlton F, Rye K, Piper D. Molecular basis of PCSK9 function. Atherosclerosis. 2009;203:1-7 pubmed publisher
    ..The present review summarizes studies published or in print before May 2008 investigating the functional significance of PCSK9 and its promising aspects as a prognostic tool and a drug target. ..
  51. Couchman K, Garrett A, Deardorff A, Rattay F, Resatz S, Fyffe R, et al. Lateral superior olive function in congenital deafness. Hear Res. 2011;277:163-75 pubmed publisher
    ..This could have clinical repercussions on the development of stimulation paradigms for spatial hearing with cochlear implants. ..
  52. Roberts A, Blewitt M, Youngson N, Whitelaw E, Chong S. Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo. Chromosoma. 2011;120:377-85 pubmed publisher
    ..Contrary to expectation, we did not detect overall lengthening in the mutants, raising questions about the role of epigenetic processes in telomere length in vivo. ..
  53. Anforth R, Blumetti T, Kefford R, Sharma R, Scolyer R, Kossard S, et al. Cutaneous manifestations of dabrafenib (GSK2118436): a selective inhibitor of mutant BRAF in patients with metastatic melanoma. Br J Dermatol. 2012;167:1153-60 pubmed publisher
    ..Highly oncogenic HPV infection is unlikely to be a contributor to the formation of SCCs or verrucal keratoses. ..
  54. Mirzaa G, Conti V, Timms A, Smyser C, Ahmed S, Carter M, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015;14:1182-95 pubmed publisher
    ..The phenotypic variability and low-level mosaicism, which challenge conventional molecular methods, have important implications for genetic testing and counselling. US National Institutes of Health. ..
  55. Dutta A, Hewett D, Fink J, Grady J, Zannettino A. Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma. Br J Haematol. 2017;178:196-208 pubmed publisher
    ..MM disease progression will illuminate possible mechanisms underlying the tumour. ..
  56. Martinac A, Bavi N, Bavi O, Martinac B. Pulling MscL open via N-terminal and TM1 helices: A computational study towards engineering an MscL nanovalve. PLoS ONE. 2017;12:e0183822 pubmed publisher
    ..g., G22N MscL) would have to be employed rather than the WT MscL channel. ..
  57. Tan P, Allen J, Wilton S, Akkari P, Huxtable C, Laing N. A splice-site mutation causing ovine McArdle's disease. Neuromuscul Disord. 1997;7:336-42 pubmed
    ..This eliminated an XbaI site present in normal sheep allowing diagnosis of normal, affected and carrier sheep. This ovine model of McArdle's disease is now available for therapeutic trials. ..
  58. Camus A, Davidson B, Billiards S, Khoo P, Rivera Pérez J, Wakamiya M, et al. The morphogenetic role of midline mesendoderm and ectoderm in the development of the forebrain and the midbrain of the mouse embryo. Development. 2000;127:1799-813 pubmed
    ..The maintenance and function of the rostral AML therefore require inductive signals emanating from the caudal AML. Our results point to a role for AML in the refinement of the anteroposterior patterning and morphogenesis of the brain. ..
  59. Forbe B, McNeil K, Scott C, Surinya K, Cosgrove L, Wallace J. Contribution of residues A54 and L55 of the human insulin-like growth factor-II (IGF-II) A domain to Type 2 IGF receptor binding specificity. Growth Factors. 2001;19:163-73 pubmed
    ..Binding to the type I IGF receptor (IGF1R) and IGF binding protein-2 (IGFBP-2) is not altered. We can, therefore, conclude that residues at positions 54 and 55 in IGF-II are important for and equally contribute to IGF2R binding. ..
  60. Gecz J, Shaw M, Bellon J, de Barros Lopes M. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gene. 2003;320:137-44 pubmed
  61. Shi B, Palukaitis P, Symons R. Stable and unstable mutations in the 5' non-translated regions of tomato aspermy virus RNAs 1 and 2 generated de novo from infectious cDNA clones containing a cauliflower mosaic virus 35S promoter. Virus Genes. 2004;28:277-83 pubmed
    ..The alternations observed had no impact on symptoms or infectivity, but did affect the accumulation of specific viral RNAs. The data also demonstrated the existence of some plasticity in the sequence of the 5' NTR. ..
  62. Watson C, Pelka G, Radziewic T, Shahbazian M, Christodoulou J, Williamson S, et al. Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation. Hum Mol Genet. 2005;14:1851-61 pubmed
    ..We also observed that the pattern of XCI in cultured fibroblasts was significantly correlated with patterns in the Purkinje cells in mutant animals but not in wild-type mice. ..
  63. Howles P, Lawrence G, Finnegan J, McFadden H, Ayliffe M, Dodds P, et al. Autoactive alleles of the flax L6 rust resistance gene induce non-race-specific rust resistance associated with the hypersensitive response. Mol Plant Microbe Interact. 2005;18:570-82 pubmed
  64. Pijlman G, Kondratieva N, Khromykh A. Translation of the flavivirus kunjin NS3 gene in cis but not its RNA sequence or secondary structure is essential for efficient RNA packaging. J Virol. 2006;80:11255-64 pubmed publisher
    ..These results have now firmly established the requirement of KUN NS3 protein translated in cis for genome packaging into virus particles...
  65. Domazetovska A, Ilkovski B, Cooper S, Ghoddusi M, Hardeman E, Minamide L, et al. Mechanisms underlying intranuclear rod formation. Brain. 2007;130:3275-84 pubmed
    ..Intranuclear aggregates thus likely contribute to the pathogenesis of muscle weakness in intranuclear rod myopathy. ..
  66. Nornes S, Newman M, Verdile G, Wells S, Stoick Cooper C, Tucker B, et al. Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity. Hum Mol Genet. 2008;17:402-12 pubmed
    ..Somatic cellular changes in ageing cells that interfere with PSEN1 splicing, or otherwise cause protein truncation, might contribute to sporadic Alzheimer's disease, cancer and other diseases. ..
  67. Oakes D, Ritchie H, Woodman P, Narup E, Moscova M, Picker K, et al. Genotoxicity studies of a desealant solvent mixture, SR-51. Toxicol Ind Health. 2009;25:5-13 pubmed publisher
    ..In conclusion, there was no evidence that SR-51 is mutagenic. ..
  68. Teese M, Campbell P, Scott C, Gordon K, Southon A, Hovan D, et al. Gene identification and proteomic analysis of the esterases of the cotton bollworm, Helicoverpa armigera. Insect Biochem Mol Biol. 2010;40:1-16 pubmed publisher
    ..Five of these sequences were matched to zones of activity on native PAGE at relative mobility values previously associated with insecticide resistance in this species. ..
  69. Locarnini S, Yuen L. Molecular genesis of drug-resistant and vaccine-escape HBV mutants. Antivir Ther. 2010;15:451-61 pubmed publisher
    ..Thus, prevention of resistance requires the adoption of strategies that not only effectively control HBV replication, but also prevent the emergence of ADAPVEMs. ..
  70. Cowin P, Anglesio M, Etemadmoghadam D, Bowtell D. Profiling the cancer genome. Annu Rev Genomics Hum Genet. 2010;11:133-59 pubmed publisher
    ..Whereas there are still significant challenges to implementing genomic testing and targeted therapy into routine clinical practice, rapid technological advancements provide hope for overcoming these obstacles. ..
  71. Wang Q, Lynch J. Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor. J Biol Chem. 2011;286:38814-24 pubmed publisher
  72. Nguyen M, Joya J, Kee A, Domazetovska A, Yang N, Hook J, et al. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain. 2011;134:3516-29 pubmed publisher
    ..These results suggest that L-tyrosine may be an effective treatment for muscle weakness and immobility in nemaline myopathy...
  73. Ash M, Maher M, Guss J, Jormakka M. The structure of an N11A mutant of the G-protein domain of FeoB. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011;67:1511-5 pubmed publisher
    ..The structure demonstrates how the use of a derivatized nucleotide in cocrystallization experiments can facilitate the growth of diffraction-quality crystals. ..
  74. Corley S, Jonsson N, Piper E, Cutullé C, Stear M, Seddon J. Mutation in the Rm?AOR gene is associated with amitraz resistance in the cattle tick Rhipicephalus microplus. Proc Natl Acad Sci U S A. 2013;110:16772-7 pubmed publisher
    ..We conclude that polymorphisms in the Rm?AOR gene are likely to confer resistance to amitraz. ..
  75. Hunter S, Rowley S, Clouston D, Li J, Lupat R, Krishnananthan N, et al. Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer. Urol Oncol. 2016;34:120.e9-16 pubmed publisher
    ..CYP3A43 and PARP2 variants have been shown to occur in other familial PCs and our findings add to the contribution that these variants potentially have in the risk and development of PC in BRCAX cases. ..
  76. Ferenci T. Trade-off Mechanisms Shaping the Diversity of Bacteria. Trends Microbiol. 2016;24:209-223 pubmed publisher
    ..This review further discusses why these trade-off mechanisms are important in the establishment of models capable of predicting bacterial competition, coexistence, and sources of diversity. ..
  77. Davoine C, Abreu I, Khajeh K, Blomberg J, Kidd B, Kazan K, et al. Functional metabolomics as a tool to analyze Mediator function and structure in plants. PLoS ONE. 2017;12:e0179640 pubmed publisher
    ..Our results indicate that different Mediator subunits are involved in specific signaling pathways that control developmental processes and tolerance to pathogen infections. ..
  78. Bernier F, Boneh A, Dennett X, Chow C, Cleary M, Thorburn D. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406-11 pubmed
    ..Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating diagnostic methodologies...
  79. Sugimoto K, Himmelspach R, Williamson R, Wasteneys G. Mutation or drug-dependent microtubule disruption causes radial swelling without altering parallel cellulose microfibril deposition in Arabidopsis root cells. Plant Cell. 2003;15:1414-29 pubmed
    ..Our results suggest that cortical microtubules regulate growth anisotropy by some mechanism other than cellulose microfibril alignment or synthesis. ..
  80. Jiang W, Zhong Z, Henson J, Neumann A, Chang A, Reddel R. Suppression of alternative lengthening of telomeres by Sp100-mediated sequestration of the MRE11/RAD50/NBS1 complex. Mol Cell Biol. 2005;25:2708-21 pubmed
    ..Spontaneously generated C-terminally truncated Sp100 that did not sequester the MRE11, RAD50, and NBS1 proteins failed to inhibit ALT. These findings identify for the first time proteins that are required for the ALT mechanism. ..
  81. Li S, Rong M, Grieu F, Iacopetta B. PIK3CA mutations in breast cancer are associated with poor outcome. Breast Cancer Res Treat. 2006;96:91-5 pubmed
    ..002). PIK3CA mutation was an independent factor for worse survival in breast cancer patients with non-amplified erbB2 (RR = 2.6, 95%CI [1.2-5.5], p = 0.016). ..
  82. Duffy L, Cappas E, Scimone A, Schofield P, Karl T. Behavioral profile of a heterozygous mutant mouse model for EGF-like domain neuregulin 1. Behav Neurosci. 2008;122:748-59 pubmed publisher
    ..Future behavioral investigations will focus on the negative and cognitive symptoms of schizophrenia. ..
  83. Bearfoot J, Choong D, Gorringe K, Campbell I. Genetic analysis of cancer-implicated MicroRNA in ovarian cancer. Clin Cancer Res. 2008;14:7246-50 pubmed publisher
    ..The absence of somatic mutations in any of the 10 cancer-implicated microRNAs in our large cohort of ovarian tumors suggests that this may be an uncommon mechanism of inactivation of microRNAs in ovarian cancer. ..
  84. van Hal S, Herring B, Deris Z, Wang B, Saksena N, Dwyer D. HIV-1 integrase polymorphisms are associated with prior antiretroviral drug exposure. Retrovirology. 2009;6:12 pubmed publisher
    ..Based on these findings, we would recommend ongoing surveillance of integrase mutations, and integrase region sequencing for patients prior to commencement of integrase inhibitors. ..
  85. Baratchi S, Kanwar R, Cheung C, Kanwar J. Proliferative and protective effects of SurR9-C84A on differentiated neural cells. J Neuroimmunol. 2010;227:120-32 pubmed publisher
    ..We further showed the protective effects of SurR9-C84A against post differentiation retinoic acid induced neurotoxicity. These abilities of SurR9-C84A offer a great potential for future neuronal repair therapy. ..
  86. Ravenscroft G, Wilmshurst J, Pillay K, Sivadorai P, Wallefeld W, Nowak K, et al. A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance. Neuromuscul Disord. 2011;21:31-6 pubmed publisher
    ..Our results also demonstrate the likely world-wide distribution of de novo mutations in this gene. ..
  87. Parkin J, San Antonio J, Pedchenko V, Hudson B, Jensen S, Savige J. Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes. Hum Mutat. 2011;32:127-43 pubmed publisher
    ..These maps further our understanding of basement membrane biology and disease, and suggest novel membrane interactions, functions, and therapeutic targets. ..
  88. Scarlett C, Salisbury E, Biankin A, Kench J. Precursor lesions in pancreatic cancer: morphological and molecular pathology. Pathology. 2011;43:183-200 pubmed publisher
    ..This review also outlines the morphological and molecular features of the other two precursors of pancreatic ductal adenocarcinoma, i.e., intraductal papillary mucinous neoplasms and mucinous cystic neoplasms. ..
  89. Glazov E, Zankl A, Donskoi M, Kenna T, Thomas G, Clark G, et al. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet. 2011;7:e1002027 pubmed publisher
  90. Ash M, Maher M, Guss J, Jormakka M. A suite of Switch I and Switch II mutant structures from the G-protein domain of FeoB. Acta Crystallogr D Biol Crystallogr. 2011;67:973-80 pubmed publisher
    ..This provides the first evidence of nucleotide-dependent helical domain movement in NFeoB proteins, suggesting a mechanism by which the G-protein domain could structurally communicate with the membrane domain and mediate iron uptake. ..
  91. Reid C, Kim T, Phillips A, Low J, Berkovic S, Luscher B, et al. Multiple molecular mechanisms for a single GABAA mutation in epilepsy. Neurology. 2013;80:1003-8 pubmed publisher
    ..These mouse studies help to provide a conceptual framework within which clinical heterogeneity seen in genetic epilepsy can be explained. ..
  92. Ke Y, Ng C, Hunter M, Mann S, Heide J, Hill A, et al. Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions. Biochem J. 2013;454:69-77 pubmed publisher