Keywords: هتروزیگوت; Familial hypercholesterolaemia; Undiagnosed; Patients; Families; Children; Prevent; Avoidable; FH; Advocacy; Homozygous; Heterozygous;
مقالات ISI هتروزیگوت (ترجمه نشده)
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Keywords: هتروزیگوت; AT; antithrombin; HBS; heparin binding site; DVT; deep venous thrombosis; ETP; Endogenous thrombin potential; AUC; Area under curve; IQR; Interquartile Range; Hz; Heterozygous; Ho; Homozygous; PE; Pulmonary embolism; VTE; Venous thromboembolism; Antithrom
Keywords: هتروزیگوت; ASD; autism spectrum disorders; BTBR; BTBR T+Itpr3tf/J mouse strain; cKO; conditional knockout; CNS; central nervous system; CNTNAP2; contactin-associated protein-like 2; DREADD; designer receptors exclusively activated by designer drugs; DSM-5; Diagnosti
Keywords: هتروزیگوت; ANOVA; analysis of variance; DA; dopamine; DD; constant darkness; HD; Huntington's disease; HET; heterozygous; HOM; homozygous; HTT; human Huntingtin gene; LD; 12:12 light-dark; MAP; methamphetamine; MASCO; methamphetamine-sensitive circadian oscillator;
Keywords: هتروزیگوت; CPVT; Cardiac calsequestrin; Heterozygous; Autosomal dominant;
Keywords: هتروزیگوت; GH transgenic fish; Homozygous; Heterozygous; Amago, Oncorhynchus masou; Muscle; Fatty acid contents;
Keywords: هتروزیگوت; ANOVA; analysis of variance; BDNF; Brain-derived neurotrophic factor; CORT; corticosterone; CS; conditioning stimulus; GR; glucocorticoid receptor; HET; heterozygous; HET CORT; HET rats receiving CORT; HPA; hypothalamic-pituitary axis; MR; mineralocorti
Keywords: هتروزیگوت; parthenogenetic embryonic stem cells (pESCs); heterozygous; homozygous
Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: Importance of early detection and lifestyle advice
Keywords: هتروزیگوت; Familial hypercholesterolaemia; Heterozygous; South Africa; Australia; Brazil;
Dietary fatty acids augment tissue levels of n-acylethanolamines in n-acylphosphatidylethanolamine phospholipase D (NAPE-PLD) knockout mice
Keywords: هتروزیگوت; ABH4; αβ-hydrolase 4; ARA; arachidonic acid; AEA; arachidonoylethanolamide; DHA; docosahexaenoic acid; DHEA; docosahexaenoylethanolamide; GDE1; glycerophosphodiester phosphodiesterase 1; HET; heterozygous; NAPE; n-acylphosphatidylethanolamine; NAPE-PLD;
Revealing genetic hybridization and DNA recombination of Fasciola hepatica and Fasciola gigantica in nuclear introns of the hybrid Fasciola flukes
Keywords: هتروزیگوت; Fasciolidae; Fascioliasis; Haplotype network; Taurocyamine kinase; Heterozygous;
Sodium-dependent organic anion transporter (Slc10a6â/â) knockout mice show normal spermatogenesis and reproduction, but elevated serum levels for cholesterol sulfate
Keywords: هتروزیگوت; 4A; 4-androstenedione; AD; androstanediol; AnDiolS; androstenediol sulfate; AnS; androsterone sulfate; CASA; computer-assisted sperm analysis; CS; cholesterol sulfate; DHEA; dehydroepiandrosterone; DHEAS; dehydroepiandrosterone sulfate; DHT; dihydrotestos
DHA Mitigates Autistic Behaviors Accompanied by Dopaminergic Change in a Gene/Prenatal Stress Mouse Model
Keywords: هتروزیگوت; 5HIAA; 5-hydroxyindoleacetic acid; 5HT; 5-hydroxytryptamine; AA; arachidonic acid; ASD; Autism Spectrum Disorder; DA; dopamine; DHA; docosahexaenoic acid; DHBA; 3,4-dihydroxybenzylamine; DOPAC; 3,4-dihydroxyphenylacetic acid; EPM; Elevated plus maze; GLC;
Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr
Keywords: هتروزیگوت; Genotype-phenotype correlation; Heterozygous; Homozygous; Long QT syndrome; Protein trafficking;
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers
Keywords: هتروزیگوت; Genetics; Parkinsonism; Heterozygous; Rating scales;
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice
Keywords: هتروزیگوت; OTC; ornithine transcarbamylase; Het; heterozygous; UCD; urea cycle disorder; KO; knockout; AAV; adeno-associated virus; GC; genome copies; PCR; polymerase chain reaction; WT; wild type; STD; standard deviation; Liver fibrosis; OTC deficiency; AAV; Gene t
Chronic mild stress impairs latent inhibition and induces region-specific neural activation in CHL1-deficient mice, a mouse model of schizophrenia
Keywords: هتروزیگوت; Acb-core; nucleus accumbens core; Acb-shell; nucleus accumbens shell; ANOVA; analysis of variance; BLA; basolateral amygdala; CER; conditioned emotional response; CHL1; Close Homolog of L1; CMS; chronic mild stress; CR; conditioned response; CS; condition
Pharmacogenomics in Anesthesia
Keywords: هتروزیگوت; Allele; Homozygous; Heterozygous; Genotype; Phenotype; Pharmacogenomics; Polymorphisms; Single-nucleotide polymorphisms (SNP); Genetics;
Pharmacogenomics in Pain Management
Keywords: هتروزیگوت; Allele; Haplotype; Homozygous; Heterozygous; Genotype; Pharmacogenomics; Polymorphisms; Single-nucleotide polymorphisms (SNP); Pain;
The single IGF-1 partial deficiency is responsible for mitochondrial dysfunction and is restored by IGF-1 replacement therapy
Keywords: هتروزیگوت; ANT; Adenine nucleotide translocator; Atr; Atractyloside; AU; Arbitrary unit; CCCP; Carbonyl cyanide m-chlorophenyl hydrazine; EC; Enzyme Commission of the International Union of Biochemistry; ETC; Electron transport chain; FL; Fluorescence; GSHPx; Glutat
Assessment of SNP and InDel Variations Among Rice Lines of Tulaipanji x Ranjit
Keywords: هتروزیگوت; rice; genotyping by sequencing; insertion-deletion; genomic introgression; single nucleotide polymorphism; awn; aroma; heterozygous;
Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis
Keywords: هتروزیگوت; Nonalcoholic Fatty Liver Disease; Laminopathy; Growth Hormone Signaling; Lipodystrophy; Fibrosis; Erk; extracellular signal-regulated kinase; FPLD2; Dunnigan familial partial lipodystrophy; GH; growth hormone; Het; heterozygous; HFD; high-fat diet; Igf1
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Keywords: هتروزیگوت; CADASIL; NOTCH3; Homozygous; Heterozygous; Mutation; Stroke;
Short communicationObject recognition impairment and rescue by a dopamine D2 antagonist in hyperdopaminergic mice
Keywords: هتروزیگوت; DAT-KO; Heterozygous; Haloperidol; Dopamine; Object recognition;
Cardiac conduction in isolated hearts of genetically modified mice - Connexin43 and salts
Keywords: هتروزیگوت; Conduction; Conduction reserve; Connexin43; Perfusate; Ephaptic coupling; [Na+]o; Extracellular sodium ion concentration; [K+]o; Extracellular potassium ion concentration; WT; Wild type; HZ; Heterozygous; [Ca2+]o; Extracellular calcium ion concentration;
Familial hypercholesterolemia/autosomal dominant hypercholesterolemia: Molecular defects, the LDL-C continuum, and gradients of phenotypic severity
Keywords: هتروزیگوت; Autosomal dominant; Autosomal recessive; Familial hypercholesterolemia; Genotype; Heterozygote; Heterozygous; Homozygote; Homozygous; LDL-C level; Lipid-lowering therapy; Monogenic; Phenotype; Statins;
Genetic knockout of the α7 nicotinic acetylcholine receptor gene alters hippocampal long-term potentiation in a background strain-dependent manner
Keywords: هتروزیگوت; aCSF; artificial cerebrospinal fluid; α7 nAChR; alpha 7 nicotinic acetylcholine receptor; CHRNA7; alpha 7 nicotinic acetylcholine receptor gene; fEPSP; field excitatory postsynaptic potential; HFS; high frequency stimulation; Het; heterozygous; KO; knock
Maladie de Niemann-Pick de type C et troubles psychiatriques : le cas d'une fratrie
Keywords: هتروزیگوت; Maladie de Niemann-Pick de type C; Troubles psychiatriques; Fratrie; Hétérozygote; Niemann-Pick type C disease; Psychiatric disorders; Siblings; Heterozygous;
Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles
Keywords: هتروزیگوت; AMH; anti-Müllerian hormone; ART; assisted reproductive technology; BMI; body mass index; FMR1; fragile X mental retardation 1; FOR; functional ovarian reserve; FSH; follicle stimulating hormone; FXPOI; fragile X primary ovarian insufficiency; GEE; gener
Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing
Keywords: هتروزیگوت; NMD, nonsense-mediated mRNA decayLong QT syndrome; Sudden death; Homozygous; Heterozygous; Gene-specific ECG patterns
In vivo modulation of polo-like kinases supports a key role for PLK2 in Ser129 α-synuclein phosphorylation in mouse brain
Keywords: هتروزیگوت; ANOVA; analysis of variance; Ce; cerebellum; CEB; cell extraction buffer; CHAPS; 3-[(3-cholamidopropyl)dimethylammonio]-1-propanesulfonate; Co; cerebral cortex; CSNK2a2; alpha prime subunit of casein kinase II; EDTA; ethylenediaminetetraacetic acid; EGTA;
Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy
Keywords: هتروزیگوت; Apheresis; Cardiovascular disease; Coronary artery disease; Familial hypercholesterolemia; Heterozygote; Heterozygous; Homozygote; Homozygous; LDL-C level; Maximally tolerated lipid-lowering therapy
Phenotypic effects of maternal immune activation and early postnatal milieu in mice mutant for the schizophrenia risk gene neuregulin-1
Keywords: هتروزیگوت; ANOVA; analysis of variance; GD; gestational day; G Ã E; gene Ã environment; HET; heterozygous; IFN-γ; interferon-γ; IL; interleukin; NRG1; neuregulin 1; PND; postnatal day; Poly I:C; polyriboinosinic-polyribocytidilic acid; PPI; prepulse inhibiti
Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs
Keywords: هتروزیگوت; Fibroblast; Dipeptidyl peptidase; Protease substrates; Protease activity; Liver disease; Fibrosis; Biomarker; ALD; alcoholic liver disease; AMC; amino-4-methylcoumarin; DPP4; dipeptidyl peptidase 4; DMSO; dimethyl sulfoxide; EDTA; ethylene diamine tetra a
Reduced Chrna7 expression in C3H mice is associated with increases in hippocampal parvalbumin and glutamate decarboxylase-67 (GAD67) as well as altered levels of GABAA receptor subunits
Keywords: هتروزیگوت; 5-HT3; serotonin 3 receptor; BDNF; brain-derived neurotrophic factor; CHRNA7/Chrna7; gene (human/mouse) encoding the α7 nicotinic acetylcholine receptor; CREB; cAMP response element binding protein; DLPFC; dorsal lateral prefrontal cortex; DTT; dithiothr
Phenotypic characterization of orofacial movement topography in mutants with disruption of amino acid mechanisms: Glutamate N2A/B/D [GluRε1/2/4] subtypes and the GABA synthesizing enzyme GAD65
Keywords: هتروزیگوت; ANCOVA; analysis of covariance; DA; dopamine; GAD65; glutamate decarboxylase; HD; Huntington's disease; HET; heterozygous; KO; knockout; PD; Parkinson's disease; S.E.M.; standard error of the mean; SKF 83959; [R/S]-3-methyl-6-chloro-7,8-dihydroxy-1-[3
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
Keywords: هتروزیگوت; A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; Câterminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th
Ablation of the ATP-binding cassette transporter, Abca2 modifies response to estrogen-based therapies
Keywords: هتروزیگوت; Estramustine; Estrogen; ABC transporter; Prostate; Drug toxicities; ABC; ATP-Binding Cassette Transporter; BrdU; Bromodeoxyuridine; EMP; Estramustine Phosphate; HET; Heterozygous; NOS; Nitric Oxide Synthase; WT; Wild Type; KO; Knockout; GI; Gastrointestin
Cutting edge assessment of the impact of autoimmunity on female reproductive success
Keywords: هتروزیگوت; FMR1 (fragile X) gene; Autoimmunity; Ovarian reserve; Female infertility; BM15; bone morphogenic protein-15 gene; FMR1; fragile X mental retardation 1; FoxP3; Forkhead Box p3; het; heterozygous; HIGM; immunodeficiency with hyper-IgM; HLA; histocompatibili
Pharmacological targeting of mitochondrial complex I deficiency: The cellular level and beyond
Keywords: هتروزیگوت; AMPK; AMP-activated protein kinase; CAT; catalase; CI; complex I; CL; cardiolipin; COX; cytochrome c oxidase; ER; endoplasmic reticulum; ERCa; ER Ca2+ content; ETC; electron transport chain; FAD; flavin adenine dinucleotide; FCS; fluorescence correlation
RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1
Keywords: هتروزیگوت; α-DG; α-dystroglycan; chABC; chondroitinase ABC; CMDs; congenital muscular dystrophies; CNS; central nervous system; CP; cortical plate; CS-GAG; chondroitin sulfate glycosaminoglycan; E; embryonic day; ECM; extracellular matrix; EDTA; ethylenediamminete
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients : Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Keywords: هتروزیگوت; Familial hypercholesterolemia; LDL receptor; Apheresis; Cascade screening; Heterozygous; Heterozygote; Homozygous; Homozygote
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Keywords: هتروزیگوت; Familial hypercholesterolemia; LDL receptor; Apheresis; Cascade screening; Heterozygous; Heterozygote; Homozygous; Homozygote
Ablation of p21-activated kinase-1 in mice promotes isoproterenol-induced cardiac hypertrophy in association with activation of Erk1/2 and inhibition of protein phosphatase 2A
Keywords: هتروزیگوت; 2-D DIGE; 2-D Difference In Gel Electrophoresis; CA; constitutively active; cTnI; cardiac troponin I; cTnT; cardiac troponin T; CTRL; control; EDT; transmitral early filling deceleration time; EDV; end-diastolic volume; Erk; extracellular signal-regulated
Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up
Keywords: هتروزیگوت; CF; Cystic fibrosis; CFTR; Cystic fibrosis transmembrane conductance regulator; CRCM; Specialized cystic fibrosis centers; HZ; Heterozygous; IRT; Immunoreactive trypsin; NBS; Newborn screening; PHT; Persistent hypertrypsinemia; PPCV; Parental Perception o
Membrane progesterone receptors localization in the mouse spinal cord
Keywords: هتروزیگوت; membrane progesterone receptor; progesterone; spinal cord; motoneuron; oligodendrocyte; astrocyte; ANOVA; analysis of variance; EAE; experimental autoimmune encephalomyelitis; GFAP; glial fibrillary acidic protein; HTZ; heterozygous; mPRs; progesterone me
Behavioural phenotyping reveals anxiety-like features of SV2A deficient mice
Keywords: هتروزیگوت; SV2A protein; Heterozygous; Anxiety; Plus-maze; Inhibitory avoidance; Behavioural phenotype; Levetiracetam
Acquisition of a second mutation of the Tp53 alleles immediately precedes epithelial morphological transformation in ovarian tumorigenicity
Keywords: هتروزیگوت; LCM; laser captured microdissection; LMP; borderline/low malignant potential; TMA; tissue microarray; Ovarian cancer; Epithelium; Pre-malignant lesion; Tp53; Heterozygous; p21; HDM2/MDM2;
Transient receptor potential vanilloid 1, vanilloid 2 and melastatin 8 immunoreactive nerve fibers in human skin from individuals with and without Norrbottnian congenital insensitivity to pain
Keywords: هتروزیگوت; calcitonin-gene related peptide; immunohistochemistry; pain; sensory neuron; skin; transient receptor potential channels; CGRP; calcitonin gene-related peptide; CT; cycle threshold; F; female; HET; heterozygous; HO; homozygous; M; male; NF200; neurofilame
Diminished drug transport and augmented radiation sensitivity caused by loss of RLIP76
Keywords: هتروزیگوت; RLIP76 (RalBP1); Ral-interacting protein; GSH; glutathione; GS-E; glutathione-electrophile conjugates; DNP-SG; dinitrophenyl S-glutathione; COL; colchicine; DOX; doxorubicin; 4HNE; 4-hydroxynonenal; IOVs; inside-out vesicles; LTC4; leukotriene C4; MEFs;