Mutation

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

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome

The adenovirus E1B 55 kD protein influences mRNA transport via an intranuclear effect on RNA metabolism

Biological Sciences / Cell line / Mutation / Cell Fractionation / Temperature / Phenotype / Cell nucleus / Time Factors / Autoradiography / Cytoplasm / Phenotype / Cell nucleus / Time Factors / Autoradiography / Cytoplasm

Mutant K-Ras increases GSK-3β gene expression via an ETS-p300 transcriptional complex in pancreatic cancer

Immunohistochemistry / Pancreatic Cancer / Gene expression / Humans / Mutation / Mice / Animals / Oncogene / Mitogen Activated Protein Kinase / Clinical Sciences / Chromatin Immunoprecipitation / Mice / Animals / Oncogene / Mitogen Activated Protein Kinase / Clinical Sciences / Chromatin Immunoprecipitation

A Picomolar Inhibitor of Resistant Strains of Human Immunodeficiency Virus Protease Identified by a Combinatorial Approach

Kinetics / Mutation / HIV protease / Drug Resistance / Drug Design / Enzyme / Human immunodeficiency virus / Protease Inhibitors / Substrate Specificity / Amino Acid Profile / Amino Acid Substitution Rates / Biochemistry and cell biology / Enzyme / Human immunodeficiency virus / Protease Inhibitors / Substrate Specificity / Amino Acid Profile / Amino Acid Substitution Rates / Biochemistry and cell biology

Engineering a terbium-binding site into an integral membrane protein for luminescence energy transfer

Fluorescence / Multidisciplinary / Protein Engineering / Fluorescence Resonance Energy Transfer / Mutation / Escherichia coli / Terbium / Membrane transport proteins / Protein Secondary Structure Prediction / Spectrum analysis / Energy Transfer / Membrane Protein / Structure activity Relationship / Cytoplasm / Binding Site / Escherichia coli / Terbium / Membrane transport proteins / Protein Secondary Structure Prediction / Spectrum analysis / Energy Transfer / Membrane Protein / Structure activity Relationship / Cytoplasm / Binding Site

Distribution of mutation frequencies among Salmonella enterica isolates from animal and human sources and genetic characterization of a Salmonella Heidelberg hypermutator

Genetics / Microbiology / Veterinary Microbiology / Veterinary / Crystal structure / Humans / Mutation / Escherichia coli / Animals / Anti-Bacterial Agents / DNA binding / Veterinary Sciences / Mutation Rate / Humans / Mutation / Escherichia coli / Animals / Anti-Bacterial Agents / DNA binding / Veterinary Sciences / Mutation Rate

Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Cortisol / Metabolic Bone Disease / Humans / Child / Mutation / Female / Phenotype / Medical Care / Enzyme / Congenital Adrenal Hyperplasia / Public health systems and services research / Sexual Maturation / Glucocorticoids / Medical Treatment / Female / Phenotype / Medical Care / Enzyme / Congenital Adrenal Hyperplasia / Public health systems and services research / Sexual Maturation / Glucocorticoids / Medical Treatment

Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

Genetics / Neuroscience / Aging / Immunohistochemistry / Serotonin / Dopamine / Brain / Caudate Nucleus / Mutation / Mice / Animals / Animal Model / Tyrosine Hydroxylase / Enzyme / Norepinephrine / Phencyclidine / Mouse Model / Postnatal development / Tryptophan hydroxylase / Regional Analysis / Putamen / Glutamic Acid / Dopamine / Brain / Caudate Nucleus / Mutation / Mice / Animals / Animal Model / Tyrosine Hydroxylase / Enzyme / Norepinephrine / Phencyclidine / Mouse Model / Postnatal development / Tryptophan hydroxylase / Regional Analysis / Putamen / Glutamic Acid

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update

Genetics / Molecular Biology / Extracellular Matrix / Survey / Humans / Mutation / Animals / Connective tissue / Mutation Detection / Optometry and Ophthalmology / Retinal Diseases / Linkage Analysis / Mutation / Animals / Connective tissue / Mutation Detection / Optometry and Ophthalmology / Retinal Diseases / Linkage Analysis

DNA damage and repair induced in vitro by nitrilotriacetic acid (NTA) in human lymphocytes

Technology / DNA damage / DNA repair / Biological Sciences / Humans / Mutation / Lymphocytes / Mutagens / Nitrilotriacetic Acid / Mutation / Lymphocytes / Mutagens / Nitrilotriacetic Acid

Diagnóstico molecular del retinoblastoma: epidemiología molecular y consejo genético

Molecular Epidemiology / Genetic counseling / Humans / Child / Mutation / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1). / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1).

Multiparametric molecular characterization of pulmonary sarcomatoid carcinoma reveals a nonrandom amplification of anaplastic lymphoma kinase (ALK) gene

Gene expression / Lung Cancer / Humans / Mutation / Female / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK

Segment-specific mutagenesis: extensive mutagenesis of a lac promoter/operator element

Multidisciplinary / Recombinant DNA Technology / Mutation / Escherichia coli / Plasmids / Base Sequence / Sperm Dna Fragmentation / Functional Testing / single stranded DNA / Base Sequence / Sperm Dna Fragmentation / Functional Testing / single stranded DNA

Two distinct sequence elements mediate retroviral gene expression in embryonal carcinoma cells

Virology / Biological Sciences / Mutation / Mice / Animals / Base Sequence / Gene Expression Regulation / Base Sequence / Gene Expression Regulation

Candida albicans: genetics, dimorphism and pathogenicity

Microbiology / Medical Microbiology / Mutation / Candida albicans

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