Mutation

BRAF Inhibitor Resistance Mechanisms in Metastatic Melanoma: Spectrum and Clinical Impact

Adolescent / Signal Transduction / Humans / Mutation / Female / Melanoma / Male / Aged / Middle Aged / Adult / Oximes / Imidazoles / Melanoma / Male / Aged / Middle Aged / Adult / Oximes / Imidazoles

Novos aspectos da genética e dos mecanismos moleculares da morfogênese da tiróide para o entendimento da disgenesia tiroidiana

Genetics / Transcription Factors / Morphogenesis / Gene expression / Molecular Mechanics / Humans / Mutation / Thyroid gland / Mice / Animals / Animal Model / Medical Physiology / Regulatory Network / Congenital Hypothyroidism / Humans / Mutation / Thyroid gland / Mice / Animals / Animal Model / Medical Physiology / Regulatory Network / Congenital Hypothyroidism

A mellékvesekéreg-carcinoma molekuláris patogenezise

Signal Transduction / Humans / Mutation / Beta-Catenin / Adenomatous Polyposis-coli / Carney Complex

A mellékvesekéreg-carcinoma molekuláris patogenezise

Signal Transduction / Humans / Mutation / Beta-Catenin / Adenomatous Polyposis-coli / Carney Complex

Review: Molecular pathogenesis of hepatic acute porphyrias

Humans / Mutation / Animals / Oxidoreductases / Differential Diagnosis / Clinical Sciences / GASTROENTEROLOGY AND HEPATOLOGY. / Clinical Sciences / GASTROENTEROLOGY AND HEPATOLOGY.

Cep97 and CP110 Suppress a Cilia Assembly Program

Polyploidy / Biological Sciences / RNA interference / Cell line / Humans / Kidney / Mutation / Mice / Animals / Cell / Proteins / Centrioles / Cytokinesis / Cilia / Cell Cycle Proteins / Kidney / Mutation / Mice / Animals / Cell / Proteins / Centrioles / Cytokinesis / Cilia / Cell Cycle Proteins

Mitochondria and cancer

Mitochondria / Mitochondrial DNA / Humans / Mutation / Glycolysis / Clinical Sciences / Cell nucleus / Oxidative phosphorylation / Neoplasms / Clinical Sciences / Cell nucleus / Oxidative phosphorylation / Neoplasms

Medidas de audição de pais de indivíduos com deficiência auditiva de herança autossômica recessiva; Auditory measurements in parents of individuals with autosomal recessive hearing loss

Nonparametric Statistics / Humans / Mutation / Female / Male / Middle Aged / Adult / Reproducibility of Results / Middle Aged / Adult / Reproducibility of Results

Adenosquamous Carcinoma Of The Pancreas: A Clinicopathologic Series Of 25 Cases

Immunohistochemistry / Humans / Mutation / Weight Loss / Female / Male / Squamous Cell Carcinoma / Modern / Aged / Middle Aged / Adult / Survival Rate / Carcinoembryonic Antigen / Keratins / Male / Squamous Cell Carcinoma / Modern / Aged / Middle Aged / Adult / Survival Rate / Carcinoembryonic Antigen / Keratins

A High-Density Single Nucleotide Polymorphism Map for Neurospora crassa

Information Systems / Genetics / Genomics / Neurospora crassa / Humans / Mutation / Expressed Sequence Tags / Polymerase Chain Reaction / Genetic Map / Physical chromosome mapping / Single Nucleotide Polymorphism / Genetic Recombination / X chromosome / High Density Concrete / Species Specificity / Base Sequence / Genetic Markers / Mutation / Expressed Sequence Tags / Polymerase Chain Reaction / Genetic Map / Physical chromosome mapping / Single Nucleotide Polymorphism / Genetic Recombination / X chromosome / High Density Concrete / Species Specificity / Base Sequence / Genetic Markers

[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases]

Genetics / Rheumatology / Immunology / Inflammation / Adolescent / Biological Sciences / DNA / Osteoporosis / Humans / Child / Mutation / Haplotypes / Female / Male / Alternative splicing / Monoclonal Antibodies / Netherlands / Fever of Unknown Origin / Differential Diagnosis / Pedigree / Phenotype / Ethnic Groups / Skin Diseases / Recurrence / Clinical Sciences / Alendronate / Introns / Middle Aged / Family Health / Adult / Fever / Public health systems and services research / Immunophenotyping / Combination drug therapy / Alternative Splicing / Amino Acid Sequence / Base Sequence / Syndrome / Amyloidosis / immunoglobulin G / Familial Mediterranean Fever / Etanercept / Biological Sciences / DNA / Osteoporosis / Humans / Child / Mutation / Haplotypes / Female / Male / Alternative splicing / Monoclonal Antibodies / Netherlands / Fever of Unknown Origin / Differential Diagnosis / Pedigree / Phenotype / Ethnic Groups / Skin Diseases / Recurrence / Clinical Sciences / Alendronate / Introns / Middle Aged / Family Health / Adult / Fever / Public health systems and services research / Immunophenotyping / Combination drug therapy / Alternative Splicing / Amino Acid Sequence / Base Sequence / Syndrome / Amyloidosis / immunoglobulin G / Familial Mediterranean Fever / Etanercept

Hemochromatosis gene and nonalcoholic fatty liver disease: A systematic review and meta-analysis

Membrane Proteins / Hepatology / Humans / Mutation / OR / non alcoholic fatty liver disease (NAFLD) / Meta Analysis / Systematic review / Clinical Sciences / Fatty Liver / Genotype / NASH / European Continental Ancestry Group / OMIM / Genetic Association / Observational Study / Case Control Studies / non alcoholic fatty liver disease (NAFLD) / Meta Analysis / Systematic review / Clinical Sciences / Fatty Liver / Genotype / NASH / European Continental Ancestry Group / OMIM / Genetic Association / Observational Study / Case Control Studies

The novel ER membrane protein PRO41 is essential for sexual development in the filamentous fungus Sordaria macrospora

Fluorescence Microscopy / Membrane Proteins / Molecular Microbiology / Confocal Microscopy / Western blotting / Biological Sciences / Mutation / Endoplasmic Reticulum / Cell Fractionation / Sexual Development / Amino Acid Sequence / Membrane Protein / Gene expression profiling / Biological Sciences / Mutation / Endoplasmic Reticulum / Cell Fractionation / Sexual Development / Amino Acid Sequence / Membrane Protein / Gene expression profiling

Natural transformation of a marineVibrio species by plasmid DNA

Microbiology / Microbial Ecology / Ecology / Antibiotic Resistance / Mutation / Bacteria / Genetic transformation / Sterilization / Marine Environment / Host Range / Natural Transformation / Plasmid / Ratio / Plasmid DNA / Bacteria / Genetic transformation / Sterilization / Marine Environment / Host Range / Natural Transformation / Plasmid / Ratio / Plasmid DNA

A cytosolic trans-activation domain essential for ammonium uptake

Multidisciplinary / Nature / Arabidopsis thaliana / Crystal structure / Mutation / Arabidopsis / Membrane Protein / Quaternary Ammonium Compounds / PLANT PROTEINS / Dynamic Range / Allosteric regulation / Arabidopsis / Membrane Protein / Quaternary Ammonium Compounds / PLANT PROTEINS / Dynamic Range / Allosteric regulation
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