R. > Mutation, | BibSonomy

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2Dissecting the genomic complexity underlying medulloblastoma.
D. Jones, N. Jäger, M. Kool, T. Zichner, B. Hutter, M. Sultan, Y. Cho, T. Pugh, V. Hovestadt, A. Stütz and 80 other author(s). Nature, 488 (7409): 100--105 (August 2012)
10 years ago by @bbrors
show all tags
Humans;
Fusion,
Nucleotide
Sequence;
Polyploidy;
Demethylases,
metabolism;
Neoplasm
Transformation,
Hedgehog
High-Throughput
Nuclear
DNA
Mutation
DEAD-box
beta
RNA
Transcription
Aging,
genetics
Receptors,
Factors,
Genomics;
Phosphoprotein
Neoplastic;
Cell
classification/diagnosis/genetics/pathology;
Chromatin,
Analysis,
Mutation,
Sequence
Phosphatases,
Surface,
Sequencing;
Helicases,
RNA;
Chromosomes,
Cerebellar
genetics;
Domain
Transduction;
Human,
Child;
Genome,
Methylation;
Acid
T-Box
Medulloblastoma,
Catenin,
Rate;
Neoplasms,
Proteins,
DNA-Binding
Oncogene
Amino
Histone
Signal
Wnt
Humans;Fusion,NucleotideSequence;Polyploidy;Demethylases,metabolism;NeoplasmTransformation,HedgehogHigh-ThroughputNuclearDNAMutationDEAD-boxbetaRNATranscriptionAging,geneticsReceptors,Factors,Genomics;PhosphoproteinNeoplastic;Cellclassification/diagnosis/genetics/pathology;Chromatin,Analysis,Mutation,SequencePhosphatases,Surface,Sequencing;Helicases,RNA;Chromosomes,Cerebellargenetics;DomainTransduction;Human,Child;Genome,Methylation;AcidT-BoxMedulloblastoma,Catenin,Rate;Neoplasms,Proteins,DNA-BindingOncogeneAminoHistoneSignalWnt
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1Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
C. Lynex, I. Carr, J. Leek, R. Achuthan, S. Mitchell, E. Maher, C. Woods, D. Bonthon, and A. Markham. BMC Neurol, 4 (1): 20 (November 2004)
10 years ago by @ar0berts
show all tags
Microsatellite
Humans;
Movement
Syndrome;
Proteins;
Cerebral
Chromosome
Analysis,
Mutation,
Sequence
Glutamate
Repeats;
Palsy;
Female;
Homozygote;
Mapping;
Pedigree;
Viral
Male;
Contig
Stiff-Person
Proteins
Plant
Decarboxylase;
Protein;
Missense;
MicrosatelliteHumans;MovementSyndrome;Proteins;CerebralChromosomeAnalysis,Mutation,SequenceGlutamateRepeats;Palsy;Female;Homozygote;Mapping;Pedigree;ViralMale;ContigStiff-PersonProteinsPlantDecarboxylase;Protein;Missense;
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1A dual shaping mechanism for postsynaptic ephrin-B3 as a receptor that sculpts dendrites and synapses.
N. Xu, S. Sun, J. Gibson, and M. Henkemeyer. Nat Neurosci, 14 (11): 1421--1429 (November 2011)
10 years ago by @ar0berts
show all tags
genetics/metabolism;
genetics/physiology/ultrastructure;
src
Mice,
Spines,
PDZ
Ephrin-B2,
genetics/physiology
Syntenins,
Mutation,
Potentials,
Dendrites,
Cultured;
Silver
Synapses,
Dendritic
Analysis
Mice;
Lectins,
Animals;
Nuclear
Neurological;
Transgenic;
Neurons,
genetics;
Models,
Animals,
Hippocampus,
Transfection,
Variance;
Excitatory
Ephrin-B3,
Homology
Newborn;
Cells,
Staining,
Domains,
ultrastructure;
Postsynaptic
cytology;
Plant
Proteins,
Carrier
of
genetics/physiology;
methods;
genetics/metabolism;genetics/physiology/ultrastructure;srcMice,Spines,PDZEphrin-B2,genetics/physiologySyntenins,Mutation,Potentials,Dendrites,Cultured;SilverSynapses,DendriticAnalysisMice;Lectins,Animals;NuclearNeurological;Transgenic;Neurons,genetics;Models,Animals,Hippocampus,Transfection,Variance;ExcitatoryEphrin-B3,HomologyNewborn;Cells,Staining,Domains,ultrastructure;Postsynapticcytology;PlantProteins,Carrierofgenetics/physiology;methods;
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3The cancer genome.
M. Stratton, P. Campbell, and P. Futreal. Nature, 458 (7239): 719--724 (April 2009)
11 years ago by @gwotto
show all tags
Humans;
Analysis
Genome,
Neoplasm,
Genes,
Mutation,
Genomics,
Sequence
genetics;
trends;
Neoplasms,
Human,
Humans;AnalysisGenome,Neoplasm,Genes,Mutation,Genomics,Sequencegenetics;trends;Neoplasms,Human,
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1Complement factor C3 deposition and serum resistance in isogenic capsule and lipooligosaccharide sialic acid mutants of serogroup B Neisseria meningitidis
U. Vogel, A. Weinberger, R. Frank, A. Müller, J. Köhl, J. Atkinson, and M. Frosch. Infection and Immunity, 65 (10): 4022--4029 (October 1997)PMID: 9317002.
14 years ago by @ag_vogel
show all tags
Bacterial
C3b,
Mutation,
Complement
serum_resistance
Acid,
Blood
Capsules,
Humans,
{4-Epimerase}
{N-Acetylneuraminic}
meningitidis,
{UDPglucose},
Neisseria
Bactericidal
Activity,
C3,
Lipopolysaccharides,
Sialyltransferases,
BacterialC3b,Mutation,Complementserum_resistanceAcid,BloodCapsules,Humans,{4-Epimerase}{N-Acetylneuraminic}meningitidis,{UDPglucose},NeisseriaBactericidalActivity,C3,Lipopolysaccharides,Sialyltransferases,
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1Susceptibility of Neisseria meningitidis to 16 antimicrobial agents and characterization of resistance mechanisms affecting some agents
J. Jorgensen, S. Crawford, and K. Fiebelkorn. Journal of Clinical Microbiology, 43 (7): 3162--3171 (July 2005)PMID: 16000430.
14 years ago by @jelias
show all tags
Serotyping,
Health
Mutation,
{Anti-Bacterial}
States,
Humans,
meningitidis,
Sensitivity
Neisseria
Techniques,
Bacterial
Bacterial,
Media,
Agents,
United
Bacteriological
Meningococcal
World
Resistance,
Proteins,
Tests,
Microbial
Infections,
Culture
Drug
Serotyping,HealthMutation,{Anti-Bacterial}States,Humans,meningitidis,SensitivityNeisseriaTechniques,BacterialBacterial,Media,Agents,UnitedBacteriologicalMeningococcalWorldResistance,Proteins,Tests,MicrobialInfections,CultureDrug
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1Effect of the Factor V Leiden mutation on the severity of meningococcal disease
S. Kondaveeti, M. Hibberd, R. Booy, S. Nadel, and M. Levin. The Pediatric Infectious Disease Journal, 18 (10): 893--896 (October 1999)PMID: 10530586.
14 years ago by @jelias
show all tags
Factors
Intravascular
Risk
Mutation,
Purpura,
Meningococcal
Child,
Heterozygote,
Humans,
{Schoenlein-Henoch,}
V,
Factor
Genotype,
Coagulation,
Disseminated
Infections,
FactorsIntravascularRiskMutation,Purpura,MeningococcalChild,Heterozygote,Humans,{Schoenlein-Henoch,}V,FactorGenotype,Coagulation,DisseminatedInfections,
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1Mutation patterns and structural correlates in human immunodeficiency virus type 1 protease following different protease inhibitor treatments
T. Wu, C. Schiffer, M. Gonzales, J. Taylor, R. Kantor, S. Chou, D. Israelski, A. Zolopa, W. Fessel, and R. Shafer. Journal of Virology, 77 (8): 4836--47 (April 2003)PMID: 12663790.
14 years ago by @jelias
show all tags
Prevalence,
{DNA}
{HIV}
Analysis,
Mutation,
Sequence
Data,
Resistance,
Humans,
Molecular,
Molecular
Protease
Inhibitors,
{HIV-1,}
Models,
Infections,
Viral,
Protease,
Drug
Prevalence,{DNA}{HIV}Analysis,Mutation,SequenceData,Resistance,Humans,Molecular,MolecularProteaseInhibitors,{HIV-1,}Models,Infections,Viral,Protease,Drug
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1In vitro assessment of the further potential for development of fluoroquinolone resistance in Neisseria meningitidis
T. Shultz, P. White, and J. Tapsall. Antimicrobial Agents and Chemotherapy, 49 (5): 1753--60 (May 2005)PMID: 15855492.
14 years ago by @jelias
show all tags
Fluoroquinolones,
Mutation,
{Anti-Bacterial}
Transcriptase
{DNA,}
Reaction
Gyrase,
Polymerase
meningitidis,
Sensitivity
Neisseria
Topoisomerase
Chain
Bacterial,
Acid
{DNA}
Agents,
Reverse
Resistance,
Substitution,
Tests,
Microbial
Amino
{IV,}
Drug
Fluoroquinolones,Mutation,{Anti-Bacterial}Transcriptase{DNA,}ReactionGyrase,Polymerasemeningitidis,SensitivityNeisseriaTopoisomeraseChainBacterial,Acid{DNA}Agents,ReverseResistance,Substitution,Tests,MicrobialAmino{IV,}Drug
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1The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
C. Semsarian, I. Ahmad, M. Giewat, D. Georgakopoulos, J. Schmitt, B. McConnell, S. Reiken, U. Mende, A. Marks, D. Kass and 2 other author(s). J Clin Invest, 109 (8): 1013-20 (April 2002)Semsarian, Christopher Ahmad, Imran Giewat, Michael Georgakopoulos, Dimitrios Schmitt, Joachim P McConnell, Bradley K Reiken, Steven Mende, Ulrike Marks, Andrew R Kass, David A Seidman, Christine E Seidman, J G Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. United States The Journal of clinical investigation J Clin Invest. 2002 Apr;109(8):1013-20..
14 years ago by @pharmawuerz
show all tags
Familial/genetics/metabolism/pathology/*prevention
&
Channel
Mutation,
Channels,
control
Myosins/*genetics
Calsequestrin/metabolism
Animal
Animals
Hypertrophic,
Strains
Mutant
effects/metabolism
Mice
L-Type/drug
Models,
Missense
Heavy
Chains/*genetics
Calcium
Disease
Ventricular
Blockers/*pharmacology
Humans
Diltiazem/*pharmacology
Cardiomyopathy,
Myocardium/pathology
Myosin
Calcium/metabolism
Familial/genetics/metabolism/pathology/*prevention&ChannelMutation,Channels,controlMyosins/*geneticsCalsequestrin/metabolismAnimalAnimalsHypertrophic,StrainsMutanteffects/metabolismMiceL-Type/drugModels,MissenseHeavyChains/*geneticsCalciumDiseaseVentricularBlockers/*pharmacologyHumansDiltiazem/*pharmacologyCardiomyopathy,Myocardium/pathologyMyosinCalcium/metabolism
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1Molecular basis of Ca(2)+ activation of the mouse cardiac Ca(2)+ release channel (ryanodine receptor).
P. Li, and S. Chen. J. Gen. Physiol., 118 (1): 33--44 (July 2001)
16 years ago by @hake
show all tags
Glutamic
Mice,
Calcium,
Channel
Ion
Mutation,
Support,
Acid,
Humans,
Reticulum,
Receptor
Point
11429443
Gating,
Caffeine,
Magnesium,
Adenosine
Animals,
Ryanodine
Calcium
Transfection,
Gl,
Sarcoplasmic
Gov't,
Research
Ryanodine,
Electrophysiology,
Alanine,
Triphosphate,
Dose-Response
utamic
Non-U.S.
Channel,
Drug,
Relationship,
Muscle
ntraction,
Co,
Heart,
Release
GlutamicMice,Calcium,ChannelIonMutation,Support,Acid,Humans,Reticulum,ReceptorPoint11429443Gating,Caffeine,Magnesium,AdenosineAnimals,RyanodineCalciumTransfection,Gl,SarcoplasmicGov't,ResearchRyanodine,Electrophysiology,Alanine,Triphosphate,Dose-ResponseutamicNon-U.S.Channel,Drug,Relationship,Musclentraction,Co,Heart,Release
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1Ryanodine sensitizes the Ca$^2+$ release channel (ryanodine receptor) to Ca$^2+$ activation.
H. Masumiya, P. Li, L. Zhang, and S. Chen. J. Biol. Chem., 276 (43): 39727--39735 (October 2001)
16 years ago by @hake
show all tags
Glutamic
Calcium,
Channel
Ion
Mutation,
Support,
Acid,
Humans,
Receptor
Gating,
Caffeine,
Magnesium,
Ryanodine
Calcium
Gov't,
Research
11507100
Ryanodine,
Alanine,
Dose-Response
Non-U.S.
Channel,
Drug,
Relationship,
Release
GlutamicCalcium,ChannelIonMutation,Support,Acid,Humans,ReceptorGating,Caffeine,Magnesium,RyanodineCalciumGov't,Research11507100Ryanodine,Alanine,Dose-ResponseNon-U.S.Channel,Drug,Relationship,Release
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1Dantrolene inhibition of ryanodine receptor Ca$^2+$ release channels. Molecular mechanism and isoform selectivity.
F. Zhao, P. Li, S. Chen, C. Louis, and B. Fruen. J. Biol. Chem., 276 (17): 13810--13816 (April 2001)
16 years ago by @hake
show all tags
Skeletal,
Glutamic
Mice,
Calcium,
11278295
Ion
Central,
Swine,
50,
Humans,
Molecular,
DNA,
Inhibitory
Point
Gating,
Caffeine,
Ryanodine
Animals,
Calcium
Adenine,
Transfection,
Complementary,
Research
Central
Dantrolene,
Ryanodine,
Muscle,
Alanine,
Electrophysiology,
Dose-Response
utamic
Magnesium
Dominant,
U.S.
Relationship,
Muscle
Cell
Co,
Release
Binding
Channel
Genes,
Mutation,
Concentration
Support,
Acid,
Nervous
Transduction,
Transferase,
Stimulants,
Protein
Cysteine,
Reticulum,
P.H.S.,
Receptor
Cryoelectron
Line,
Magnesium,
Microscopy,
Fusion
Strontium,
Adenosine
Binding,
Myocardium,
Gl,
Sarcoplasmic
Cloning,
Gov't,
Chloride,
System
Conformation,
Arginine,
Triphosphate,
Kinetics,
Proteins,
Channel,
Non-U.S.
Drug,
Glutathione
Recombinant
Signal
Relaxants,
ntraction,
Heart,
Isoforms,
Sites,
Skeletal,GlutamicMice,Calcium,11278295IonCentral,Swine,50,Humans,Molecular,DNA,InhibitoryPointGating,Caffeine,RyanodineAnimals,CalciumAdenine,Transfection,Complementary,ResearchCentralDantrolene,Ryanodine,Muscle,Alanine,Electrophysiology,Dose-ResponseutamicMagnesiumDominant,U.S.Relationship,MuscleCellCo,ReleaseBindingChannelGenes,Mutation,ConcentrationSupport,Acid,NervousTransduction,Transferase,Stimulants,ProteinCysteine,Reticulum,P.H.S.,ReceptorCryoelectronLine,Magnesium,Microscopy,FusionStrontium,AdenosineBinding,Myocardium,Gl,SarcoplasmicCloning,Gov't,Chloride,SystemConformation,Arginine,Triphosphate,Kinetics,Proteins,Channel,Non-U.S.Drug,GlutathioneRecombinantSignalRelaxants,ntraction,Heart,Isoforms,Sites,
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1Protein-protein association: investigation of factors influencing association rates by brownian dynamics simulations.
R. Gabdoulline, and R. Wade. J. Mol. Biol., 306 (5): 1139--1155 (March 2001)
16 years ago by @hake
show all tags
Hydrogen-Ion
Structure,
c
11237623
Egg
Mutation,
Simulation,
Acetylcholinesterase,
Support,
oleracea,
tochrome-c
Protein
Transport,
Statistical,
Molecular,
Point
Cytochromes
Ribonucleases,
Models,
Spinacia
Bacterial
Tertiary,
Oxygen,
Cytochrome
Plastocyanin,
Binding,
f,
Venoms,
Gov't,
Research
Secondary,
Peroxidase,
Oxidation-Reduction,
Elapid
Group,
Comparative
Conformation,
Ligands,
Proteins,
Cy,
Electron
Concentration,
Non-U.S.
Chemical,
Computer
Study,
Electrostatics,
Cytochromes,
Hydrogen-IonStructure,c11237623EggMutation,Simulation,Acetylcholinesterase,Support,oleracea,tochrome-cProteinTransport,Statistical,Molecular,PointCytochromesRibonucleases,Models,SpinaciaBacterialTertiary,Oxygen,CytochromePlastocyanin,Binding,f,Venoms,Gov't,ResearchSecondary,Peroxidase,Oxidation-Reduction,ElapidGroup,ComparativeConformation,Ligands,Proteins,Cy,ElectronConcentration,Non-U.S.Chemical,ComputerStudy,Electrostatics,Cytochromes,
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1Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca$^2+$-ATPase isoform 2 (SERCA2) gene.
M. Periasamy, T. Reed, L. Liu, Y. Ji, E. Loukianov, R. Paul, M. Nieman, T. Riddle, J. Duffy, T. Doetschman and 2 other author(s). J. Biol. Chem., 274 (4): 2556-62 (January 1999)
16 years ago by @hake
show all tags
RNA,
Mice,
{C}a$^{2+}$-Transporting
Calcium,
Mutation,
Phenotype,
Support,
Base
Reticulum,
P.H.S.,
Male,
ATPase,
Mutant
DNA
Sequence,
Animals,
Female,
Sarcoplasmic
Strains,
Gov't,
Research
Primers,
Isoenzymes,
Heterozygote,
9891028
U.S.
Messenger,
Heart,
RNA,Mice,{C}a$^{2+}$-TransportingCalcium,Mutation,Phenotype,Support,BaseReticulum,P.H.S.,Male,ATPase,MutantDNASequence,Animals,Female,SarcoplasmicStrains,Gov't,ResearchPrimers,Isoenzymes,Heterozygote,9891028U.S.Messenger,Heart,
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1Electrostatic analysis and Brownian dynamics simulation of the association of plastocyanin and cytochrome f.
F. Rienzo, R. Gabdoulline, M. Menziani, P. Benedetti, and R. Wade. Biophys. J., 81 (6): 3090--3104 (December 2001)
16 years ago by @hake
show all tags
Hydrogen-Ion
Mutation,
Simulation,
Support,
oleracea,
Protein
Transport,
Molecular,
Point
Cytochromes
Models,
11720977
Spinacia
Oxygen,
Plastocyanin,
Binding,
f,
Gov't,
Research
Oxidation-Reduction,
Conformation,
Ligands,
Electron
Concentration,
Non-U.S.
Chemical,
Computer
Electrostatics,
Cytochromes,
Hydrogen-IonMutation,Simulation,Support,oleracea,ProteinTransport,Molecular,PointCytochromesModels,11720977SpinaciaOxygen,Plastocyanin,Binding,f,Gov't,ResearchOxidation-Reduction,Conformation,Ligands,ElectronConcentration,Non-U.S.Chemical,ComputerElectrostatics,Cytochromes,
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1Three-dimensional reconstruction of the recombinant type 3 ryanodine receptor and localization of its amino terminus.
Z. Liu, J. Zhang, M. Sharma, P. Li, S. Chen, and T. Wagenknecht. Proc. Natl. Acad. Sci. U. S. A., 98 (11): 6104--6109 (May 2001)
16 years ago by @hake
show all tags
Glutamic
Mice,
Calcium,
Ion
Humans,
Point
Gating,
Caffeine,
Ryanodine
Animals,
Calcium
Transfection,
Research
Ryanodine,
11353864
Alanine,
Electrophysiology,
Dose-Response
utamic
U.S.
Relationship,
Muscle
Cell
Co,
Release
Channel
Mutation,
Support,
Acid,
Transferase,
Protein
Reticulum,
P.H.S.,
Receptor
Cryoelectron
Line,
Magnesium,
Microscopy,
Fusion
Adenosine
Gl,
Sarcoplasmic
Gov't,
Conformation,
Triphosphate,
Proteins,
Channel,
Non-U.S.
Drug,
Glutathione
Recombinant
ntraction,
Heart,
GlutamicMice,Calcium,IonHumans,PointGating,Caffeine,RyanodineAnimals,CalciumTransfection,ResearchRyanodine,11353864Alanine,Electrophysiology,Dose-ResponseutamicU.S.Relationship,MuscleCellCo,ReleaseChannelMutation,Support,Acid,Transferase,ProteinReticulum,P.H.S.,ReceptorCryoelectronLine,Magnesium,Microscopy,FusionAdenosineGl,SarcoplasmicGov't,Conformation,Triphosphate,Proteins,Channel,Non-U.S.Drug,GlutathioneRecombinantntraction,Heart,
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publications (hide)17 displayallpublications onlypublications per page5102050100 sort byadded attitleauthorpublication dateentry typehelp for advanced sorting... RSSBibTeXRDFmore...

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publications (hide)17
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all
publications only
publications per page
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10
20
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100
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author
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