homocystinuria

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(Click for frequent words.) 68 dominantly inherited 68 monogenic 66 de novo mutations 66 autosomal dominant disorder 65 Genetic mutations 65 von Hippel Lindau 64 MYH9 gene 64 constitutively expressed 63 leptin deficiency 63 myopathies 63 Beta thalassemia 63 SCN1A 62 posttranslational modification 62 G6PD deficiency 62 Genetic variations 62 inherited mutations 62 cystic fibrosis chronic pancreatitis 62 IgA deficiency 62 MTHFR 62 Genetic variation 62 polyglutamine diseases 62 paraneoplastic 61 inherited neurological disorder 61 KCNH2 61 Hereditary angioedema 61 chromosomal rearrangement 61 Vitamin B# deficiency 61 dysgenesis 61 neuropsychiatric disorder 61 apolipoprotein E gene 61 Spinal muscular atrophy 61 hemolytic 61 congenital hypothyroidism 61 channelopathies 61 ABCB1 gene 61 autoinflammatory diseases 61 autosomal recessive disease 60 gene rearrangements 60 phenotypic expression 60 autosomal recessive 60 CHD7 60 systemic amyloidosis 60 huntingtin gene 60 epigenetic alterations 60 idiopathic PAH 60 survival motor neuron 60 familial adenomatous polyposis FAP 60 Magnesium deficiency 60 HFE gene 60 bronchoalveolar 60 thyroid hormone deficiency 60 abnormal angiogenesis 60 germline mutations 60 PTPN# 60 hyperammonemia 60 granulomatous 60 Cockayne syndrome 60 hypothalamic pituitary 60 missense mutations 60 peroxisomal 60 KCNQ1 60 peroxisome 60 pleiotropic 60 somatic mutation 60 LRAT 60 dyskeratosis congenita 60 chromosomal anomalies 60 exocrine glands 60 Elevated serum 60 nonvascular 60 hormonal abnormalities 60 losing enteropathy 60 molecular determinants 60 motor neuron degeneration 59 C#Y 59 neuronal dysfunction 59 KRAS oncogene 59 Clusterin 59 IgG4 59 genes predisposing 59 #q# deletion 59 hereditary predisposition 59 metaplasia 59 hyperplastic 59 progranulin gene 59 differential gene expression 59 lysosomal storage disease 59 thyrotropin 59 WNK1 59 SSc 59 autosomal dominant 59 neurofibrillary 59 BRCA1 BRCA2 59 aciduria 59 Treponema 59 ADPKD 59 progressive neurodegenerative disorder 59 neuro developmental disorders 59 ALK gene 59 sporadic Creutzfeldt Jakob 59 pathogenic mutations 59 multisystem disease 59 interstitial pneumonia 59 antiphospholipid syndrome 59 NAGS deficiency 59 gastric cardia 59 HLA DQ2 59 Genetic mutation 59 inherited neurodegenerative 59 histone methylation 59 biochemical imbalances 59 congenital disorders 59 myeloproliferative 59 Urinary tract 59 SMAD4 59 Lafora disease 59 filaggrin 59 hemoglobinopathies 59 pancreatic endocrine 59 recessive genetic 59 overactivation 59 underlying pathophysiology 59 KCNE2 59 oncogenic mutations 59 LRP5 59 mtDNA mutations 59 perilipin 59 MLL gene 59 microdeletion 59 podocytes 59 Cathepsin B 59 enteropathy 58 functional polymorphism 58 enterocolitis 58 circadian genes 58 Li Fraumeni syndrome 58 Zinc deficiency 58 mitochondrial mutations 58 TRPV4 58 eosinophilic 58 Kufs disease 58 SCN5A 58 severe congenital neutropenia 58 hyperhomocysteinemia 58 γ secretase 58 Apolipoprotein E 58 Fas ligand 58 neurodegenerative disorder 58 reproductive abnormalities 58 exocrine 58 autosomal recessive disorder 58 hamartomas 58 abnormal proteins 58 β1 58 airway hyperresponsiveness 58 gene MECP2 58 etiologic 58 Peutz Jeghers syndrome 58 idiopathic pulmonary 58 MDR1 58 familial clustering 58 gastric carcinoma 58 tropomyosin 58 developmental abnormalities 58 beta1 integrin 58 JAK2 enzyme 58 osteoblastic 58 GSTT1 58 autoinflammatory 58 NPC1 58 hormone aldosterone 58 LIS1 58 phenotypic variation 58 underactive thyroid gland 58 HLA DRB1 58 Hypophosphatasia 58 GPC5 58 Htt 58 hydrops 58 misregulation 58 TMPRSS2 ERG fusion 58 BCL#A 58 lactose malabsorption 58 SOD2 58 antiphospholipid antibodies 58 transfusion syndrome 58 Genetic variants 58 metabolic abnormality 58 missense mutation 58 predisposing factor 58 multigenic 58 galactosemia 58 chromosomal mutations 58 proximal tubule 58 Phenotypic 58 synovial cells 58 spontaneous mutations 58 JAK mutations 58 ADAMTS# 58 sequence homology 58 mosaicism 58 lymphomas leukemias 58 gene locus 58 CDH1 58 sphingolipid 58 bone marrow mesenchymal stem 58 enterotoxin 58 autosomal dominant inheritance 58 Atopic dermatitis 58 autoimmune thyroiditis 58 intestinal microbiota 58 Cryptococcus neoformans 58 congenital adrenal hyperplasia CAH 58 histologic subtype 58 progressive neurodegenerative 58 Glomerular 58 Acute pancreatitis 58 C. trachomatis 58 hyperparathyroidism 58 cystic fibrosis transmembrane conductance 58 mutated protein 58 histocompatibility 57 CD#c 57 CYP#C# gene 57 platelet dysfunction 57 gene deletions 57 recessive trait 57 inherited neurodegenerative disorder 57 penetrance 57 metabolic dysfunction 57 Estrogen receptor 57 endocrine dysfunction 57 COL#A# 57 ANCA associated 57 herpesviruses 57 molecular abnormalities 57 Hfq 57 neurological manifestations 57 4E BP1 57 folate metabolism 57 nonhereditary 57 TCF#L# gene 57 mutant huntingtin protein 57 PI3K signaling 57 nephronophthisis 57 demyelinating 57 Sjögren syndrome 57 mal absorption 57 dehydrogenase deficiency 57 Skeletal muscle 57 microdeletions 57 etiologic factors 57 aneuploidies 57 CYP#D# gene 57 hereditary spastic paraplegia 57 protein alpha synuclein 57 myelin insulation 57 acyl CoA 57 spongiform encephalopathies 57 eccrine 57 proinflammatory 57 survivin expression 57 Fragile X gene 57 VHL gene 57 TPMT 57 MMP# 57 hyper IgE syndrome 57 leukoencephalopathy 57 genetic syndromes 57 chromosomal deletions 57 HGPS 57 arachidonic acid AA 57 genetic loci 57 proteinases 57 Trichophyton rubrum 57 Ribavirin causes 57 proapoptotic 57 previously uncharacterized 57 Irritable bowel syndrome IBS 57 myo inositol 57 regulator CFTR gene 57 anaplastic lymphoma kinase 57 potent inducer 57 muscular dystrophies 57 multifactorial disease 57 cytochrome oxidase 57 hyperprolactinemia 57 ENPP1 57 C1q 57 Folate deficiency 57 intracerebral 57 telomere DNA 57 Uric acid 57 Polycythemia vera 57 valvular heart disease 57 alpha synuclein protein 57 CFTR gene 57 diabetic kidney 57 allelic variants 57 MELAS syndrome 57 neuro degenerative disorders 57 BARD1 57 Alport syndrome 57 neuronal degeneration 57 Thyroid hormone 57 MC4R gene 57 hepatocellular carcinomas 57 Iron deficiency anemia 57 metabolizing enzymes 57 redox active 57 genetic polymorphism 57 cyclic nucleotide 57 chromosomal aberrations 57 MEF2A 57 erythrocytes 57 Hashimoto thyroiditis 57 primary ciliary dyskinesia 57 bacteriuria 57 intronic 57 pleiotropic effects 57 GATA4 57 Brugada Syndrome 57 gestational diabetes mellitus GDM 57 chronic granulomatous disease 57 Chlamydia pneumoniae 57 ERK signaling 57 upregulates 56 IRE1 56 cholestasis 56 mitochondrial metabolism 56 SOD2 gene 56 Smad3 56 PGC 1α 56 beta globin gene 56 HbF 56 neurofibroma 56 recessive mutations 56 behavioral abnormalities 56 CYP#B# 56 vascular dysfunction 56 germinal center 56 epiglottitis 56 seizures comas 56 spontaneous mutation 56 clinicopathological 56 familial adenomatous polyposis 56 MYCN amplification 56 coagulopathy 56 P falciparum 56 unknown etiology 56 tuberous sclerosis complex 56 kidney insufficiency 56 testicular dysgenesis syndrome 56 neurological abnormalities 56 Oxidative stress 56 homozygosity 56 endogenous retroviruses 56 CYP#A# gene 56 MGUS 56 xenobiotic 56 Pulmonary hypertension 56 tyrosine phosphorylation 56 Autoimmune disorders 56 proteolysis 56 APOL1 56 haematologic 56 folate concentrations 56 epistasis 56 thyroid deficiency 56 pathophysiological 56 diathesis 56 PCNSL 56 autosomal dominant polycystic kidney 56 alternatively spliced 56 metabolizing enzyme 56 IgE mediated 56 somatic mutations 56 ovarian dysfunction 56 neuritic 56 neurologic disorder 56 Chronic lymphocytic leukemia 56 genomic variants 56 pathophysiologic 56 apoE 56 neurofibromas 56 vitamin B1 deficiency 56 transcriptional repressor 56 inherited genetic mutations 56 arterial calcification 56 amyloidogenic 56 LDL receptor 56 Genetic predisposition 56 tryptase 56 dysregulation 56 tumor suppressor protein 56 SCD1 56 TTR amyloidosis 56 endothelial activation 56 modifier genes 56 Endometrial cancer 56 cytopathic 56 GH deficiency 56 NOTCH1 56 hereditary hemochromatosis 56 chromatin structure 56 NOD2 56 trophoblast cells 56 dermatophytes 56 Mycoplasma pneumoniae 56 medulloblastoma tumors 56 Henoch purpura 56 huntingtin protein 56 Acidosis 56 mucins 56 genus Plasmodium 56 hepatic lipase 56 HLA B# gene 56 serotonin transporters 56 incurable neurodegenerative disease 56 tumorigenicity 56 genotoxic stress 56 nephrolithiasis 56 hyperuricaemia 56 Cyclin E 56 coexpression 56 K ras gene 56 FGF signaling 56 Diverticulosis 56 MECP2 gene 56 epigenetic modification 56 holoprosencephaly 56 anemias 56 adrenocortical 56 microfilariae 56 steroidogenic 56 Six3 56 congenital deficiency 56 melanocytic 56 phthalate syndrome 56 BRAF V#E 56 granulosa cell 56 Intussusception 56 teratogens 56 Periodontitis 56 astrocytic 56 cypin 56 quasispecies 56 gastrointestinal dysfunction 56 erythema nodosum 55 transgene expression 55 epigenetic changes 55 ortholog 55 epigenetically 55 PON1 55 Osteogenesis imperfecta 55 Dental caries 55 leiomyoma 55 Amino acid 55 vascular cognitive impairment 55 chromosome aberrations 55 clefting 55 LMNA 55 neurons degenerate 55 BRAF protein 55 Polycystic ovary syndrome PCOS 55 enzyme deficiency 55 embryonic tissues 55 epilepsies 55 testicular tumors 55 genetic polymorphisms 55 Candidiasis 55 pyelonephritis 55 multisystem disorder 55 elevated fasting glucose 55 misfolded 55 hemolytic disease 55 podocyte 55 ataxias 55 thyroid dysfunction 55 Severe Combined Immunodeficiency 55 MLL2 55 Abeta protein 55 MC1R 55 virulence genes 55 Campylobacter spp 55 G6PD 55 gene polymorphisms 55 multi factorial disease 55 DGAT1 55 STK# gene 55 abnormal chromosomes 55 Heterozygous 55 beta subunit 55 outer membrane proteins 55 GSTM1 gene 55 MSH2 55 defensin 55 hypercoagulable 55 polymorphic ventricular tachycardia 55 polymicrobial 55 Bardet Biedl syndrome 55 autosomal recessive genetic 55 55 mitochondrial toxicity 55 inverse agonist 55 spore formation 55 SMN1 55 medium chain acyl 55 nitrotyrosine 55 amyloid deposition 55 lysosomal storage diseases 55 Carcinoid tumors 55 leptin receptors 55 interstitial fibrosis 55 RNA polymerases 55 endocannabinoid signaling 55 cardiac fibrosis 55 acidemia 55 LPA gene 55 gliosis 55 neurocognitive impairment 55 metabolic abnormalities 55 morphological abnormalities 55 protein tyrosine phosphatase 55 fat malabsorption 55 CNTNAP2 55 lymphatic vasculature 55 polygenic 55 MLH1 55 lysophosphatidic acid 55 FGFR2 55 IRAK1 55 deacetylation 55 gene APOE 55 LRRK2 mutations 55 chronic hepatitis cirrhosis 55 muscarinic receptors 55 xeroderma pigmentosum 55 CYP #A# 55 BubR1 55 malayi 55 glial tumors 55 developmental neurotoxicity 55 Dwarfism 55 myeloproliferative diseases 55 GLUT1 55 cardiomyopathies 55 torsade de pointes 55 metabolic disturbances 55 C. pneumoniae 55 HLA B# 55 malignant lymphomas 55 orthologs 55 H#K# methylation 55 ultrastructural 55 obstructive lung 55 C#T [002] 55 Glut1 55 synaptogenesis 55 proteinaceous 55 SGPT 55 lung epithelium 55 eotaxin 55 induced cardiomyopathy 55 nerve degeneration 55 renal tubules 55 Igf2 55 genomic deletions 55 hamartoma 55 Oxidative damage 55 beta globin 55 6 phosphate dehydrogenase 55 niacin vitamin B3 55 receptor gene 55 familial hypercholesterolemia 55 cone photoreceptors 55 chromosome rearrangements 55 Wernicke Korsakoff syndrome 55 WAGR syndrome 55 recessive mutation 55 maternally transmitted 55 epithelial barrier 55 protein fragment 55 proband 55 Hypertrophic cardiomyopathy 55 alkaline phosphatase 55 pseudotumor cerebri 55 cyclase 55 E selectin 55 Wnts 55 hypogonadotropic hypogonadism 55 CP CPPS 55 lymphoblasts 55 evolvability 55 abnormal hemoglobin 55 obligate intracellular 55 neovascularisation 55 adrenal hormones 55 heart arrhythmias 55 Fatty liver 55 immunodeficiency disorder 55 hypocretin neurons 55 mineralocorticoid 55 Helicobacter pylori infection 55 glomerular 55 hemolytic anemia 55 CAG repeats 55 HSF1 55 BMPR2 55 pressure natriuresis 55 renal cysts 55 susceptibility locus 55 calculi 55 PTEN mutations 55 cardiac hypertrophy 55 mitochondrial defects 55 Myotonic dystrophy 55 #q#.# [001] 55 metabolic dysfunctions 55 electrophysiologic 55 obstructive coronary 55 prothrombotic 55 Parkinson Disease PD 55 hypothalamic pituitary adrenal axis 55 folic acid deficiency 55 chromosomal translocations 55 regulates gene expression 55 nonalcoholic steatohepatitis NASH 55 biochemical abnormalities 55 leaky gut 55 fulminant hepatic failure 55 Myocarditis 55 inherited maternally 55 hepatic insulin resistance 55 unmutated 55 thyrotoxicosis 55 Jhdm2a 55 autophagic 55 Hp2 2 55 dopamine receptor gene 55 immunodeficiencies 55 fibrous dysplasia 55 chromosomal instability 55 maternally inherited 55 uremic 55 hyperactivation 55 HepG2 cells 55 germline cells 55 SHANK3 55 periodontal tissues 55 Von Willebrand disease 55 leptin receptor 55 Fanconi anemia FA 55 chorioamnionitis 55 insoluble plaques 55 multigene 55 proteoglycan 55 teratoma 55 idiopathic generalized epilepsy 55 Arp2 3 55 atopic disorders 55 cervicitis 54 transthyretin 54 neuro endocrine 54 Nup# 54 lymphocyte activation 54 Neurofibromatosis type 54 primary biliary cirrhosis 54 syringae 54 Chronic pancreatitis 54 MTHFR gene 54 CHEK2 54 mesenteric 54 eosinophilia 54 susceptibility alleles 54 N. gonorrhoeae 54 BMAL1 54 heritable disorders 54 monozygotic twin 54 ß catenin 54 oligomerization 54 presymptomatic 54 phenothiazines 54 MELAS 54 M. catarrhalis 54 hyperactivated 54 p# activation 54 Coeliac disease 54 neural progenitor 54 PrPSc 54 researchers hypothesised 54 parkinsonism 54 mediastinitis 54 pneumococci 54 Polyunsaturated fatty acids 54 familial ALS 54 lymphoid cells 54 neoplastic 54 retinoblastoma Rb 54 physiological abnormalities 54 amyloid beta peptides 54 FGFs 54 sickle hemoglobin 54 linkage disequilibrium LD 54 DNA rearrangements 54 subcellular compartments 54 AAT deficiency 54 causative mutation 54 Brugada syndrome 54 syncope fainting 54 mitochondrial disorders 54 frameshift 54 adenylate cyclase 54 GSTP1 54 hyperreactivity 54 SMN protein 54 microsatellite instability 54 V#F mutation 54 brain lesions 54 adrenocortical cancer 54 obesity insulin resistance 54 prodynorphin 54 alpha thalassemia 54 intracytoplasmic 54 telomere maintenance 54 MMP9 54 CREBBP 54 protein misfolding 54 infectious prion proteins 54 IPAH 54 genetically inherited 54 severe malignant osteopetrosis 54 Leber hereditary optic neuropathy 54 histone H4 54 Ferritin 54 prostate carcinogenesis 54 hematopoetic 54 eosinophilic esophagitis 54 myofibroblasts 54 caspase activation 54 endocrine disorder 54 primary cilia 54 epigenetic modifications 54 thiopurine 54 imperfecta 54 unexplained mental retardation 54 alpha1 antitrypsin deficiency 54 chronic autoimmune disorder 54 Hutchinson Gilford progeria 54 autoimmune thyroid 54 epithelia 54 nonmelanoma 54 Borrelia burgdorferi 54 Ketoacidosis 54 cerebri 54 apo E 54 bronchopulmonary dysplasia BPD 54 oncogenic transformation 54 penile fibrosis 54 parkinsonian 54 Churg Strauss syndrome 54 murine model 54 lactase deficiency 54 colorectal carcinogenesis 54 BRCA2 breast cancer 54 fetuin 54 H#K#me# 54 aneuploid 54 cerebral vasospasm 54 multiply uncontrollably 54 fibrin deposition 54 neurite outgrowth 54 Arrhythmogenic Right Ventricular Cardiomyopathy 54 intracellular signal transduction 54 JAK2 gene 54 hypometabolism 54 Mitral regurgitation 54 cyclic AMP cAMP 54 ADRB2 54 Pneumocystis carinii 54 SLC#A# gene [001] 54 Systemic lupus erythematosus 54 desmosomes 54 cytomegalovirus infection 54 evolutionary conserved 54 hypereosinophilic syndrome 54 bullous pemphigoid 54 trans palmitoleate 54 allergic dermatitis 54 palladin 54 CYP#C# [002] 54 cirrhotic liver 54 DNA adducts 54 SMN2 gene 54 neurodevelopmental disorder 54 dentinal hypersensitivity 54 Thyroid disorders 54 hemoglobin molecule 54 CD# expression [001] 54 overactive thyroid gland 54 stone formers 54 glycated 54 flaccid paralysis 54 filaggrin gene 54 cervical degenerative disc 54 gonococcal 54 globin 54 malignant phenotype 54 MMP2 54 apolipoprotein E4 54 hypothalamic amenorrhea 54 Loeys Dietz syndrome 54 paraganglioma 54 chromosome #q#.# [001] 54 intrahepatic 54 Cystic fibrosis CF 54 pituitary hormone 54 lung epithelial cells 54 untreated celiac disease 54 normal karyotype 54 mastocytosis 54 gastric carcinomas 54 colocalization 54 Leber congenital amaurosis LCA 54 NF kappaB activation 54 PALB2 54 FMR1 gene 54 arrhythmogenic 54 coiled coil domain 54 villous atrophy 54 Congenital Adrenal Hyperplasia 54 neuroinflammatory 54 chromosome abnormality 54 basophils 54 Leydig cell 54 mitochondrial gene 54 juvenile idiopathic arthritis JIA 54 NF1 gene 54 Sclerosing 54 cutaneous lesions 54 leptin resistance 54 potent stimulator 54 immunoreactivity 54 Aortic stenosis 54 allograft rejection 54 parasite Plasmodium falciparum 54 upregulating 54 immune dysregulation 54 aminotransferase 54 cofactors 54 PPARγ 54 activin 54 Wiskott Aldrich syndrome 54 breast endometrial 54 mycobacterium tuberculosis 54 1 antitrypsin AAT 54 angiosarcoma 54 radiosensitive 54 chitinase 54 transcriptional activation 54 complement inhibitor eculizumab 54 orchitis 54 cellularity 54 germline mutation 54 Orthostatic hypotension 54 TP# mutation 54 DQB1 * 54 asplenia 54 cardiopulmonary bypass surgery 54 hydroxylase 54 Lupus nephritis 54 Folic acid deficiency 54 Bacterial vaginosis 54 apoC III 54 homozygotes 54 monogenic disorders 54 constitutively active 54 Epstein Barr virus EBV 54 intracranial hemorrhage ICH 54 1 proteinase inhibitor 54 TOMM# 54 G#S [002] 54 Eisenmenger syndrome 54 superior mesenteric artery 54 cytokine signaling 54 parasitemia 54 PON1 gene 54 promoter hypermethylation 54 thyroiditis 54 familial pancreatic cancer 54 serine threonine kinase 54 haemochromatosis 54 gene encodes 54 allelic variation 54 glomerulonephritis 54 amyloid β 54 atherothrombotic 54 #p# [003] 54 LKB1 54 BH4 deficiency 54 amyloid ß 54 chromosomal disorders 54 adipocyte 54 Heritability 54 lichen planus 54 TP# gene 54 Propionibacterium acnes 54 Obstructive sleep apnea OSA 54 congenital anomalies 54 Sporadic CJD 54 LPS induced 54 fetal malformations 54 evolutionarily conserved 54 fatal neurodegenerative disorder 54 UGT#B# 54 Androgenetic alopecia 54 CCR5 delta# 54 Yeast infections 53 abnormal clotting 53 #q#.# [002] 53 globin genes 53 chromosomal rearrangements 53 GRK5 53 airway hyper responsiveness 53 myocyte 53 Phenylketonuria 53 neuro degenerative disease 53 epithelial tissues 53 LVNC 53 bacterial virulence 53 abnormal lipids 53 Abnormalities 53 NFKBIA 53 sCJD 53 hypernatremia 53 GPIHBP1 53 Hurthle cell 53 Mitochondrial 53 JAK STAT 53 etiologic agent 53 lysosomal enzyme 53 allergic eczema 53 mRNA transcripts 53 SETDB1 53 isoenzymes 53 tubule 53 pathophysiological processes 53 esophageal reflux 53 EBNA1 53 inherited retinal degeneration 53 aldehyde dehydrogenase 53 pernicious anemia 53 pathogenic mechanisms 53 G allele 53 mitochondrial enzyme 53 epididymitis 53 Vangl2 53 protein misfolding diseases 53 hypercalciuria 53 transcriptional regulation 53 Acute myeloid leukemia 53 phosphatases 53 mammary stem cells 53 cervical lymph nodes 53 Morphological 53 Subclinical 53 Niemann Pick disease 53 pancytopenia 53 chemo immunotherapy 53 intestinal epithelium 53 MAP kinase 53 molecular mimicry 53 myeloproliferative neoplasms 53 alpha1 53 hereditary deafness 53 histologic findings 53 excitotoxic 53 bacterium Escherichia coli 53 fluoroquinolone resistance 53 polyhydramnios 53 C EBP alpha 53 heterozygotes 53 adhesion proteins 53 histone modification 53 ectopic expression 53 chromosome condensation 53 dopamine synthesis 53 desmin 53 mechanotransduction 53 pretransplant 53 microcephalin 53 Phenylketonuria PKU 53 ADA SCID 53 Dysplasia 53 eicosanoid 53 glutamine repeats 53 inborn errors 53 induced neuronal 53 mesenchymal cell

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