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Phenotype
Phenotype
Common variable immunodeficiency disorders: division into distinct clinical phenotypes
Autoimmunity / Humans / Blood / Registries / Phenotype / Clinical Sciences / Prognosis / Survival Time / Immunoglobulin / Age of Onset / Cohort Studies / Age at Onset / Clinical Sciences / Prognosis / Survival Time / Immunoglobulin / Age of Onset / Cohort Studies / Age at Onset
A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba
Cognitive Science / Cuba / Genetic counseling / Humans / Cerebellum / Animals / Spinocerebellar ataxia / Cerebellar ataxia / Incidence / Phenotype / Peripheral Neuropathy / Neuronal Death / Neurosciences / Purkinje cell / Animals / Spinocerebellar ataxia / Cerebellar ataxia / Incidence / Phenotype / Peripheral Neuropathy / Neuronal Death / Neurosciences / Purkinje cell
Cloning of Leishmania nucleoside transporter genes by rescue of a transport-deficient mutant
Genetics / Membrane Proteins / Gene expression / Multidisciplinary / Xenopus / Humans / Mutation / Female / Animals / Drug Resistance / Phenotype / Molecular cloning / Protozoan Proteins / Amino Acid Sequence / Oocytes / Humans / Mutation / Female / Animals / Drug Resistance / Phenotype / Molecular cloning / Protozoan Proteins / Amino Acid Sequence / Oocytes
X-L INKED L YMPHOPROLIFERATIVE D ISEASE : A Progressive Immunodeficiency
Immunology / Transcription Factors / Signal Transduction / Humans / Sequence alignment / Male / Phenotype / Respiratory Tract Infections / Diffuse Large B-Cell Lymphoma / Disease Progression / Protein Conformation / Amino Acid Sequence / Structure activity Relationship / Antigen presenting cells / Agammaglobulinemia / Male / Phenotype / Respiratory Tract Infections / Diffuse Large B-Cell Lymphoma / Disease Progression / Protein Conformation / Amino Acid Sequence / Structure activity Relationship / Antigen presenting cells / Agammaglobulinemia
Differential uPAR recruitment in caveolar-lipid rafts by GM1 and GM3 gangliosides regulates endothelial progenitor cells angiogenesis
Kinetics / Signal Transduction / Humans / Phenotype / Clinical Sciences / Newborn Infant / Caveolae / Cellular and Molecular Medicine / Caveolin-1 / Biochemistry and cell biology / Endothelial Progenitor Cells / Newborn Infant / Caveolae / Cellular and Molecular Medicine / Caveolin-1 / Biochemistry and cell biology / Endothelial Progenitor Cells
The urea decomposition product cyanate promotes endothelial dysfunction
Humans / Kidney / Endothelial Cells / Animals / Male / Vascular endothelium / Phenotype / Clinical Sciences / Time Factors / Citrulline / Aorta / Vasodilation / Plasminogen Activator Inhibitor / Vascular endothelium / Phenotype / Clinical Sciences / Time Factors / Citrulline / Aorta / Vasodilation / Plasminogen Activator Inhibitor
Clinical features of facioscapulohumeral muscular dystrophy 2
Cognitive Science / Neurology / Adolescent / Humans / Child / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies
An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division
Genomics / Multidisciplinary / Gene Silencing / Nature / Cell Division / RNA interference / Mitosis / Humans / Cell Viability / Phenotype / Gene Function / HeLa cells / Very high throughput / Cytokinesis / Cell Proliferation / Cell Survival / RNA interference / Mitosis / Humans / Cell Viability / Phenotype / Gene Function / HeLa cells / Very high throughput / Cytokinesis / Cell Proliferation / Cell Survival
Lyn deficiency reduces GATA-1, EKLF and STAT5, and induces extramedullary stress erythropoiesis
Transcription Factors / Hematopoiesis / Erythropoietin / Cell line / Mice / Animals / Oncogene / C2H2 zinc fingers / Young Adult / Bone marrow / Phenotype / Transcription Factor / Clinical Sciences / Erythropoiesis / In Vitro Studies / DNA binding proteins / Gene Expression Regulation / Milk proteins / Tyrosine Kinase / Animals / Oncogene / C2H2 zinc fingers / Young Adult / Bone marrow / Phenotype / Transcription Factor / Clinical Sciences / Erythropoiesis / In Vitro Studies / DNA binding proteins / Gene Expression Regulation / Milk proteins / Tyrosine Kinase
A Reliable Phenotype Predictor for Human Immunodeficiency Virus Type 1 Subtype C Based on Envelope V3 Sequences
Genetics / Virology / Sequence Analysis / HIV / Biological Sciences / Humans / Phenotype / Human immunodeficiency virus / Random sampling / Reproducibility of Results / Disease Progression / Predictive value of tests / Confidence Interval / Humans / Phenotype / Human immunodeficiency virus / Random sampling / Reproducibility of Results / Disease Progression / Predictive value of tests / Confidence Interval
A Genetic Screen Identifies PITX1 as a Suppressor of RAS Activity and Tumorigenicity
Transcription Factors / Biological Sciences / RNA interference / Cell line / Humans / Genetic Testing / Mice / Animals / Cell / Genetic Screening / Phenotype / Caco-2 cells / Tumor Suppressor Gene / Colon cancer / HeLa cells / Gene Expression Regulation / Genetic Testing / Mice / Animals / Cell / Genetic Screening / Phenotype / Caco-2 cells / Tumor Suppressor Gene / Colon cancer / HeLa cells / Gene Expression Regulation
Transgenic RNA interference in ES cell–derived embryos recapitulates a genetic null phenotype
Genetics / Stem Cells / Human Embryonic Stem Cells / RNA silencing / RNA polymerase / Multidisciplinary / Nature / Cell Division / Genetic Engineering / RNA interference / Cell line / Humans / Mice / Animals / Phenotype / Gene Function / Gene Targeting / Homologous Recombination / Embryos / ES cell / Multidisciplinary / Nature / Cell Division / Genetic Engineering / RNA interference / Cell line / Humans / Mice / Animals / Phenotype / Gene Function / Gene Targeting / Homologous Recombination / Embryos / ES cell
loco encodes an RGS protein required for Drosophila glial differentiation
Transcription Factors / Development / Gene expression / Biological Sciences / Drosophila / Cell Differentiation / Humans / Mutagenesis / Animals / Peripheral Nervous System / Central Nervous System / Proteins / Phenotype / Rats / Amino Acid Sequence / Base Sequence / DNA binding proteins / Gtp Binding Proteins / Cell Differentiation / Humans / Mutagenesis / Animals / Peripheral Nervous System / Central Nervous System / Proteins / Phenotype / Rats / Amino Acid Sequence / Base Sequence / DNA binding proteins / Gtp Binding Proteins
Aberrant IgG2 Antibody Response to Neisseria Meningitidis Polysaccharide A After Vaccination in Frequently Infected Compared to Healthy IgA-Deficient Individuals
Immunology / Humans / Female / Male / Phenotype / Middle Aged / Adult / Enzyme Linked Immunosorbent Assay / Meningococcal Vaccines / immunoglobulin G / Middle Aged / Adult / Enzyme Linked Immunosorbent Assay / Meningococcal Vaccines / immunoglobulin G
A SIRT1-LSD1 Corepressor Complex Regulates Notch Target Gene Expression and Development
Drosophila melanogaster / Gene expression / Cell and Molecular Biology / Biological Sciences / Geriatric Nursing / Mutation / Animals / Phenotype / Immunoprecipitation / Histones / Sirtuin / Mutation / Animals / Phenotype / Immunoprecipitation / Histones / Sirtuin
Signatures of cinnamyl alcohol dehydrogenase deficiency in poplar lignins
Organic Chemistry / Phytochemistry / Biological Sciences / Populus / Wood / Lignin / Solubility / Phenotype / Enzyme / CHEMICAL SCIENCES / Room Temperature / Gas Chromatography/mass Spectrometry / Populus Deltoides / Sodium Hydroxide / Alcohol Dehydrogenase / Molecular Structure / Down-Regulation / Lignin / Solubility / Phenotype / Enzyme / CHEMICAL SCIENCES / Room Temperature / Gas Chromatography/mass Spectrometry / Populus Deltoides / Sodium Hydroxide / Alcohol Dehydrogenase / Molecular Structure / Down-Regulation
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