missense

Related by string. * * missense mutations . missense mutation *

Related by context. All words. (Click for frequent words.) 67 MSH2 67 COL#A# 67 missense mutations 66 transferase 66 C#T [002] 66 frameshift mutation 66 PTPN# 66 Amino acid 66 adenylate cyclase 66 decarboxylase 66 rs# [004] 66 Overexpression 66 dinucleotide 66 missense mutation 66 indels 66 succinate dehydrogenase 66 MLH1 65 serine threonine 65 C#Y 65 ribosomal protein 65 phosphorothioate 65 Polymorphism 65 K#N 65 cytidine 65 heterozygotes 65 carboxyl terminal 64 Dysregulation 64 chromosome #q# [002] 64 indel 64 rRNA 64 deoxy 64 PCR RFLP 64 ABCB1 64 Mutational 64 rs# [002] 64 BRAF V#E 64 methylenetetrahydrofolate reductase 64 constitutively expressed 64 Histologic 64 insertion deletion 64 Polymorphisms 64 metaplasia 64 Chromosomal 64 insertions deletions 63 sequence homology 63 PON1 gene 63 alternatively spliced 63 R#W [002] 63 intergenic 63 TSC1 63 VNTR 63 constitutively active 63 GSTP1 63 LPS induced 63 V#F mutation 63 activating mutation 63 cytochrome b 63 allelic variants 63 steroidogenic 63 Genetic variation 63 TOP2A gene 63 epistasis 63 Heterozygous 63 μ opioid receptor 63 immunohistochemical 63 ESR1 63 orthologs 63 somatic mutation 63 MTHFR 63 Haplotype 63 rs# rs# 63 At#g# 63 methyltransferase 63 CYP #D# 63 D#N 63 Western blotting 63 microsatellite instability 63 Histone 63 mRNA transcripts 63 coding exons 62 Serum concentrations 62 #S rRNA gene 62 Leydig cell 62 hypothalamic pituitary 62 Phenotypic 62 CHEK2 62 #p# [003] 62 beta actin 62 Germline 62 coexpression 62 transduced 62 cis regulatory 62 allelic 62 hepatic lipase 62 KRAS oncogene 62 Supplemental Figure 62 transgenic mice expressing 62 amino acid residue 62 functional polymorphism 62 null mice 62 apo AI 62 HepG2 cells 62 HLA DRB1 * 62 Jhdm2a 62 variant allele 62 Homozygous 62 muscarinic receptor 62 microdeletion 62 NPM1 gene 62 Secretase 62 Clusterin 62 somatic mutations 62 germline mutations 62 #q#.# [002] 62 intronic 62 IL#B 62 Single Nucleotide Polymorphism 62 Upregulation 62 catechol O methyltransferase 62 metabolizing enzyme 62 rs# [001] 61 gene polymorphism 61 CYP#A# CYP#D# 61 p# MAPK 61 mRNA expression 61 Phosphorylation 61 adipogenic 61 gene rearrangements 61 HFE gene 61 homozygosity 61 multivariate Cox 61 homozygotes 61 uracil 61 WNK1 61 Trichophyton rubrum 61 ortholog 61 synthetase 61 BRCA1 BRCA2 61 #S rRNA 61 GSTT1 61 heterozygous 61 GenBank accession 61 MYBPC3 61 chromosome #p# [002] 61 Estrogen Receptor 61 subcellular localization 61 ^ sup #m 61 CD#c 61 chromosomal rearrangement 61 proto oncogene 61 phospho 61 β1 61 monogenic 61 Cytoplasmic 61 P2X 61 EGFP 61 Apolipoprotein E 61 ERBB2 61 microdeletions 61 HER2 overexpression 61 caveolin 61 protein tyrosine phosphatase 61 paralogs 61 transcriptional repressor 61 regulator CFTR gene 61 κ 61 hepatoma 61 5 hydroxytryptamine 61 autosomal recessive 61 immunohistochemical analysis 61 ERalpha 61 CYP#D# gene 61 apolipoprotein E gene 61 CDKN2A 61 glutamic acid decarboxylase 61 Eq. 61 MLL2 61 transgene expression 61 ERK1 2 61 Schematic representation 61 fig. S1 61 BMP2 61 LRP5 61 nucleotide substitutions 61 RRM1 61 immunodominant 61 HLA DR4 immune 61 carcinoembryonic antigen 61 hypermethylated 61 p tau 61 chromosome #q# [001] 61 #S rRNA genes 61 receptor kinase 61 polyploid 61 cell adhesion molecule 61 hydroxylase 61 transcriptional regulation 61 qRT PCR 61 synthases 61 desaturase 60 renal cysts 60 Nf1 60 valine 60 serine threonine kinase 60 unmethylated 60 ORFs 60 prostate carcinoma 60 gene amplification 60 BMAL1 60 intergenic regions 60 #p#.# [002] 60 K ras mutations 60 promoter methylation 60 chromosome #q 60 Cardiac Troponin 60 VKORC1 60 autosomal dominant 60 H#K#me# 60 cysteines 60 cytochrome 60 TIMP 1 60 ALK gene 60 CYP#C# [002] 60 chromosome #p# [001] 60 immunoblotting 60 Superoxide 60 Oncogenic 60 isoleucine 60 amino terminal 60 histopathological 60 phosphoprotein 60 KIF6 gene 60 chromosome #q#.# [002] 60 orthologous 60 ectopic expression 60 transmembrane protein 60 C#BL/#J 60 Androgen 60 oligomeric 60 carboxy terminal 60 miRNA expression 60 AMACR 60 siRNA knockdown 60 SHANK3 60 chromosomal deletions 60 MTHFR gene 60 autosomal recessive disorder 60 #q#.# [001] 60 LPA gene 60 syngeneic 60 nucleotide sequence 60 CREBBP 60 mucinous 60 paternally inherited 60 hepatocellular carcinomas 60 CpG island 60 isoenzyme 60 Immunohistochemical staining 60 mediated inhibition 60 N acetyl 60 splice variants 60 uniparental 60 UGT#A# 60 APOC3 60 homozygote 60 phorbol 60 covalently bound 60 Synuclein 60 immunoreactivity 60 astrocytic 60 Transcriptome 60 transgenic mouse models 60 coding genes 60 genetic polymorphism 60 #S rDNA 60 Lymphocyte 60 oxidase 60 ADAMTS# 60 guanine G 60 dimeric 60 γ secretase 60 urothelial carcinoma 60 gene polymorphisms 60 glutamyl 60 ChIP seq 60 lymphocytic 60 c KIT 60 proline rich 60 SCN5A 60 Supplementary Fig 60 Cytochrome 60 pheochromocytomas 60 tropomyosin 60 ncRNA 60 threonine 60 V#E 60 Immunohistochemical 60 c fos 60 rs# [003] 60 Extracellular 60 lamivudine resistant 59 HER2 HER2 59 Glycosylation 59 CFTR cystic fibrosis transmembrane 59 raphe 59 surgically resected 59 thyroid carcinoma 59 homologues 59 thyroglobulin 59 nucleolar 59 ABL1 59 colocalization 59 Tubulin 59 β actin 59 Histopathologic 59 amino acid substitutions 59 mediated phosphorylation 59 transcriptional regulator 59 EP4 59 SNP rs# [001] 59 Corynebacterium 59 alpha subunit 59 untranslated regions 59 DLC1 59 TP# gene 59 urothelial 59 haematopoietic 59 RFLP 59 amino acid substitution 59 beta tubulin 59 PCR amplified 59 cytokeratin 59 intraventricular 59 Morphological 59 normal karyotype 59 autosomal 59 neurofilament 59 IgG1 59 thymidine 59 CDH1 59 TMPRSS2 ERG 59 Cytogenetic 59 IgA deficiency 59 antitrypsin 59 LRAT 59 assay detects 59 chromosomal aberrations 59 ouabain 59 transcriptome sequencing 59 myelofibrosis polycythemia vera 59 MYH9 gene 59 glyceraldehyde 3 59 synuclein 59 heterozygosity 59 mRNA encoding 59 apolipoprotein B 59 Cathepsin B 59 RQ PCR 59 Alleles 59 Epithelial 59 DHPLC 59 ^ sup ^ 59 virulence genes 59 Apolipoprotein 59 immunoreactive 59 amyloidogenic 59 reaction PCR 59 Myeloid 59 TTR gene 59 Arabidopsis genome 59 potent inhibition 59 MALDI TOF MS 59 phospholipase C 59 HMGA1 59 mitochondrial gene 59 Caenorhabditis 59 beta globin 59 leiomyomas 59 microcephalin 59 genes CYP#C# 59 karyotypes 59 hypogonadotropic hypogonadism 59 lysine residues 59 urate oxidase 59 ligand receptor 59 frameshift 59 gene encodes 59 inducible nitric oxide synthase 59 receptor tyrosine kinase 59 ,#,# [002] 59 A. thaliana 59 Subtype 59 MAP#K# 59 pyrimidine 59 antiapoptotic 59 cDNAs 59 polyadenylation 59 JAK2 V#F 59 RAS RAF MEK 59 induced apoptosis 59 fig. S2 59 antiphospholipid syndrome 59 allele frequencies 59 overactivation 59 Histopathological 59 RNA polymerases 59 quantitative trait loci 59 Gly 59 clinicopathological 59 hyperplastic 59 aminotransferase 59 single nucleotide polymorphism 59 D#G 59 SCN1A 59 Polymerase 59 dopamine transporter gene 59 histone H4 59 microsomal 59 heterochromatic 59 cytochrome c oxidase 59 prolyl 59 chloroplast genome 59 E. faecalis 59 hydroxyproline 59 MLL gene 59 isotypes 59 TMEM#B 59 inactivating mutations 59 Dopaminergic 59 Bos taurus 59 LRRK2 gene 59 Macrophage 59 haplotypes 59 CAG repeats 58 Genotypes 58 somatostatin 58 3' UTR 58 homologue 58 TCF#L# gene 58 dopamine receptor gene 58 colorectal carcinoma 58 Vps# 58 FLT3 58 Dpp 58 Fig. 2b 58 glycosylated 58 histopathologic 58 tryptase 58 Leukemias 58 QRT PCR 58 gastric carcinogenesis 58 homolog 58 Prefrontal 58 hnRNP 58 downstream effector 58 susceptibility locus 58 promoter polymorphism 58 isoenzymes 58 transiently transfected 58 kDa protein 58 RASSF1A 58 GNAQ 58 deaminase 58 constitutive activation 58 nephronophthisis 58 pDC 58 tetramers 58 IL 1ß 58 mutant allele 58 linkage disequilibrium 58 adrenoceptor 58 1alpha 58 scintigraphic 58 forkhead 58 cotransporter 58 FUS1 58 mitogen activated protein kinase 58 chromatin immunoprecipitation 58 DNMT1 58 yeast Saccharomyces cerevisiae 58 serine protease 58 meiotic recombination 58 NMIBC 58 SNP rs# [002] 58 osteoblastic 58 cisplatin resistant 58 penetrance 58 GPI anchored 58 electrophysiologic 58 Microtubule 58 lysates 58 dorsal root ganglion 58 familial aggregation 58 immunofluorescence staining 58 KRAS BRAF 58 variant alleles 58 thrombospondin 58 motor neuron degeneration 58 SOD2 58 RT qPCR 58 mutated K ras 58 beta. 58 isoform 58 Tyrosine Kinase 58 VEGFR1 58 HepG2 58 Alu elements 58 presynaptic 58 cells transfected 58 replicase 58 Rearrangements 58 BARD1 58 nonsynonymous 58 p# activation 58 interobserver 58 Conformational 58 differentially regulated 58 immunocytochemistry 58 Alkaline Phosphatase 58 de novo mutations 58 KIAA# 58 Flt3 58 p# p# 58 RT PCR assay 58 phospholipase 58 GLUT1 58 arrhythmogenic 58 coactivator 58 CagA 58 protein phosphatase 58 CHD7 58 proline residues 58 downregulates 58 epithelial tumors 58 gene duplications 58 IL8 58 Transcriptional 58 1beta 58 allele frequency 58 P cadherin 58 morphologic 58 monocyte chemotactic protein 58 immunostaining 58 fig. S4 58 nucleotide sequences 58 uncharacterized 58 miR #a [001] 58 acetylcholine receptor 58 Single Nucleotide Polymorphisms 58 M#V 58 androgen receptor AR 58 hypomethylation 58 annexin V 58 glomerular 58 endonuclease 58 Activating mutations 58 upregulates 58 immunofluorescent 58 TP# mutations 58 SLC#A# [001] 58 Endometrial 58 prostanoid 58 pombe 58 ENPP1 58 Modulates 58 MC4R gene 58 Inactivation 58 neuritic 58 gene locus 58 vimentin 58 ß catenin 58 anionic backbone 58 dipeptide 58 TSC2 58 cyclase 58 sitosterol 58 Haptoglobin 58 M1 muscarinic 58 pleiotropic 58 receptor subunits 58 discriminant analysis 58 epigenetic modification 58 striated muscle 58 acetylcholinesterase AChE 58 TUNEL 58 p#Kip# 58 ribosomal DNA 58 apolipoprotein E APOE 58 Interferon gamma 58 PALB2 58 III EGFRvIII 58 PDGFR 58 Fig. 1C 58 processive 58 HLA DQ2 58 prion protein PrP 58 deacetylation 58 Fig. 1a 58 aspartate 58 Ser# 58 mtDNA mutations 58 tumor xenograft models 58 SLC#A# [002] 58 phosphorylase 58 amine oxidase 58 carboxylase 58 polymorphisms 58 K#R [002] 58 immunoblot 58 ganglioside 58 Situ Hybridization 58 haematologic 58 Deadlinepix 58 neurofibrillary 58 factor HGF 58 adrenocortical 58 dependent protein kinase 58 Nucleic Acids Res 57 hypermethylation 57 Prognostic significance 57 Quantitative RT PCR 57 NRTI resistance 57 agarose gel electrophoresis 57 SLITRK1 57 CIN2 + 57 Nf2 57 tyrosine residues 57 downregulated 57 unmutated 57 miRNAs miR 57 inactive X chromosome 57 MSH6 57 phosphatidylinositol 3 57 CD8 + 57 SMN1 57 leiomyoma 57 NKG2D 57 transmembrane domain 57 Heritability 57 ribonucleotide 57 papillary renal cell carcinoma 57 Fig. 3B 57 dominantly inherited 57 esterase 57 57 Epstein Barr Virus EBV 57 tissue transglutaminase 57 Fas ligand 57 glycopeptide 57 serovar 57 aggrecan 57 tricalcium phosphate 57 genomewide 57 villous atrophy 57 RNA binding 57 Phylogenetic analysis 57 mosaicism 57 E#F# 57 Histological 57 COX2 57 Fig. 3A 57 hyperintensities 57 stereochemistry 57 Cytotoxicity 57 guanosine 57 gag pol 57 B. cereus 57 redox active 57 Secretory 57 hepatic enzyme 57 kinase domain 57 JAK STAT 57 matrix metalloproteinases MMPs 57 #q# [002] 57 Homology 57 mineralocorticoid 57 pulvinar 57 ultrasonographic 57 endometrioid 57 chromatin immunoprecipitation ChIP 57 avidin 57 methicillin susceptible Staphylococcus aureus 57 Fig. 1c 57 microRNA expression 57 CYP#C# gene 57 TPMT 57 5alpha reductase 57 JAK2 enzyme 57 FMR1 57 paragangliomas 57 α β 57 phosphatidylinositol 57 genetic loci 57 5q 57 Eukaryotic 57 57 Autoantibodies 57 efferent 57 beta subunit 57 HNPCC 57 Leukotriene 57 eIF4E 57 inducible 57 ploidy 57 gene deletions 57 autosomal dominant disorder 57 guanine nucleotide exchange 57 heterologous expression 57 figs. 57 lactate dehydrogenase 57 perilipin 57 ERK signaling 57 alkaline phosphatase ALP 57 synaptogenesis 57 CDK4 57 paraganglioma 57 Selective Inhibitor 57 glycolytic 57 Sanger sequencing 57 MEF2A 57 GSTM1 57 PGC 1α 57 FDG uptake 57 dopamine D4 receptor 57 Papillary 57 IL6 57 polyposis 57 proteolytic cleavage 57 CD# expression [001] 57 desmin 57 Synthase 57 transfected cells 57 BRAF protein 57 CC genotype 57 metastatic malignant 57 NNRTI resistance 57 Ribosomal 57 hyperintensity 57 receptor antagonism 57 ciliated 57 cytosolic 57 site directed mutagenesis 57 immunostimulatory 57 Leydig cells 57 osteogenic 57 Ectopic 57 Tasigna prolongs 57 cDNA libraries 57 DR4 57 quantitative PCR 57 Lymphocytic 57 nitric oxide synthase NOS 57 Attenuated 57 phenotypically 57 immunofluorescence 57 Attenuates 57 neuropathological 57 chromosome #p#.# 57 γ 57 substrate specificity 57 supernatants 57 spontaneous mutation 57 Drosha 57 paraffin embedded 57 Cyclin E 57 Figure 1A 57 histone acetylation 57 aspartyl 57 cytokine receptor 57 alveolar epithelial cells 57 Nucleotide 57 mitochondrial DNA mtDNA 57 gastric adenocarcinoma 57 NKX#.# 57 VSV G 57 germline mutation 57 upregulating 57 3'UTR 57 transfected 57 globin genes 57 TNFalpha 57 SLC#A# gene [002] 57 uPAR 57 X Chromosome 57 ventricular myocardium 57 microsatellite markers 57 myeloproliferative 57 MeCP2 gene 57 histological subtype 57 mesangial 57 protein tyrosine phosphatase 1B 57 2' O methyl 57 Bifidobacterium longum 57 bisulfite sequencing 57 leukocyte adhesion 57 S. pombe 57 alpha synuclein protein 57 ligand induced 57 HLA DRB1 57 inherited maternally 57 6S RNA 57 Fig. 3a 57 monosaccharide 57 Ligation 57 regulated kinase 57 codon 57 Fig. 1E 57 autoregulation 57 NS5B 57 phylogenetic analyzes 57 protein glycosylation 57 Prevotella 57 homodimers 57 hippocampal atrophy 57 centromeric 57 Inhibitory 57 annexin 57 Fig. 2C 57 proapoptotic 57 lymph node metastasis 57 pyrophosphate 57 baroreceptor 57 pT2 57 inhibin 57 IL #p# 57 c Fos 57 Single nucleotide polymorphisms 57 Infectivity 57 hypervascular 57 FLT3 kinase 57 receptor gene 57 introgression 57 HRCT 57 maternally inherited 57 Mendelian 57 Fig. 1A 57 ultrastructure 57 beta3 57 conductance regulator 57 cytopathic 57 multiplex ligation dependent 57 Lipoprotein 57 pancreatic endocrine 57 peroxidase 57 gene encoding 57 short hairpin RNAs 57 lymphoid cells 57 Signaling Pathway 57 biogenesis 57 noncoding 57 CEACAM1 57 colon carcinoma 57 prostate cancer CaP 57 hexose 57 stem cell pluripotency 57 CYT# potent vascular disrupting 57 hypointense 57 Fig. 2B 57 Skeletal muscle 57 MMP# 57 interferon IFN 57 SOCS3 57 Arabidopsis thaliana 57 L. pneumophila 57 lactate dehydrogenase LDH 57 protein neuraminidase 57 Dendritic Cells 57 phosphorylates 57 LMNA 57 methylation patterns 57 MDCK cells 56 retinol binding protein 56 QPCR 56 operon 56 metazoan 56 neoplastic 56 H#K# [002] 56 lymphangiogenesis 56 apolipoproteins 56 CCR5 delta# 56 cyclic nucleotide 56 lacZ 56 ^ Tc 56 KLF4 56 APOA5 56 ubiquitinated 56 insertional 56 breast carcinomas 56 etiologic 56 codon usage 56 NAT2 56 ChR2 56 Immunohistochemical analysis 56 apo E 56 culture supernatants 56 supratentorial 56 BDNF gene 56 transgenic mouse model 56 Neuronal 56 transcriptionally 56 Dehydrogenase 56 epigenetic alterations 56 T2 weighted 56 cytosine C 56 transmembrane receptor 56 CpG 56 isotype 56 gastric carcinoma 56 amino acid residues 56 anaphase promoting complex 56 ultrastructural 56 aneuploidies 56 proto oncogenes 56 Hashimoto thyroiditis 56 Antitumor 56 5 HT1A receptor 56 Cystatin C 56 variant rs# 56 Trypanosoma cruzi 56 transcriptional profiling 56 Fig. 1D 56 Transgenic Mice 56 hierarchical clustering 56 directed mutagenesis 56 nucleotide binding 56 crystallin 56 ssDNA 56 DU# [002] 56 SSc 56 5alpha 56 Hematopoietic 56 trinucleotide 56 MTHFD1L gene 56 transactivation 56 overexpressing cells 56 chromosome condensation 56 DQB1 * 56 rCBF 56 anthracycline induced 56 condensin 56 Antigen Specific 56 MEK1 56 Estrogen receptor 56 HBV genotype 56 linkage disequilibrium LD 56 pathogenic mutations 56 HGPIN 56 Histologically 56 cystic fibrosis transmembrane conductance 56 segmental duplications 56 #beta HSD1 56 JAK2 gene 56 PDGFR alpha 56 Multiplexed 56 nucleoli 56 Supplementary Table 56 selectively binds 56 messenger ribonucleic acid 56 dysbindin 56 cagA 56 papillary RCC 56 TCF#L# 56 Sgk1 56 cyclin dependent kinase inhibitor 56 anterior pituitary 56 von Hippel Lindau 56 Glutamic acid 56 Cx# [001] 56 papillary thyroid carcinoma 56 pairwise comparisons 56 PRNP 56 familial ALS 56 posterior cingulate 56 PON1 56 splenic 56 linearized 56 homodimer 56 circadian genes 56 polymorphism 56 Fig. 4a 56 quasispecies 56 receptor subtypes 56 N acetyltransferase 56 TrkB 56 Endothelial 56 quantitative reverse transcriptase 56 Beta Amyloid 56 MC1R gene 56 RNase L 56 myeloid 56 diffusion tensor 56 Rap1 56 Quantitation 56 MGUS 56 Taq DNA 56 Protein Kinase C 56 autophagic 56 ileal 56 potent inducer

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