Mutation

Benign retroperitoneal schwannoma presenting as colitis: a case report

Magnetic Resonance Imaging / Immunohistochemistry / Treatment Outcome / Case Report / Humans / Genetic Testing / World / Mutation / Female / Differential Diagnosis / Clinical Sciences / Colitis / Middle Aged / Spectrum / X ray Computed Tomography / Abdominal Pain / Schwann Cell / Diagnostic Criteria / DNA mutational analysis / Genetic Testing / World / Mutation / Female / Differential Diagnosis / Clinical Sciences / Colitis / Middle Aged / Spectrum / X ray Computed Tomography / Abdominal Pain / Schwann Cell / Diagnostic Criteria / DNA mutational analysis

Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson\'s disease

Genetics / Psychology / Cognitive Science / Polymorphism / Australia / Alpha Synuclein / Transcription / Brain / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Gene / Risk factors / Meta Analysis / Aged / Middle Aged / Genotype / Odds ratio / Risk Factors / Genetic Association / Neurosciences / Allele Frequency / Parkinson Disease / Case Control Studies / DNA mutational analysis / Alpha Synuclein / Transcription / Brain / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Gene / Risk factors / Meta Analysis / Aged / Middle Aged / Genotype / Odds ratio / Risk Factors / Genetic Association / Neurosciences / Allele Frequency / Parkinson Disease / Case Control Studies / DNA mutational analysis

Arabidopsis ROOT UVB SENSITIVE2/WEAK AUXIN RESPONSE1 Is Required for Polar Auxin Transport

Genetics / Plant Biology / Phylogeny / Mutation / Plant Growth Regulators / Plant Roots / Arabidopsis / Membrane transport proteins / Seedling / Auxin / Plant cell / Biochemistry and cell biology / Molecular Sequence Data / Plant Roots / Arabidopsis / Membrane transport proteins / Seedling / Auxin / Plant cell / Biochemistry and cell biology / Molecular Sequence Data

ROOT ULTRAVIOLET B-SENSITIVE1/WEAK AUXIN RESPONSE3 Is Essential for Polar Auxin Transport in Arabidopsis

Signal Transduction / Biological Sciences / Plant Physiology / Mutation / Plant Roots / Arabidopsis / Membrane transport proteins / Endosomes / Meristem / Cell Membrane / Arabidopsis / Membrane transport proteins / Endosomes / Meristem / Cell Membrane

The Arabidopsis SUMO E3 ligase SIZ1 controls phosphate deficiency responses

Multidisciplinary / Signal Transduction / Mutation / Polymerase Chain Reaction / Plant Roots / Arabidopsis / Anthocyanins / Phosphates / Adaptive Response / Lateral Root / Immunoblotting / Arabidopsis / Anthocyanins / Phosphates / Adaptive Response / Lateral Root / Immunoblotting

Mutação de novo causadora de doença de Fabry em paciente do sexo feminino

Humans / Mutation / Female / Fabry Disease / Middle Aged

The Arabidopsis thaliana AGRAVITROPIC 1 gene encodes a component of the polar-auxin-transport efflux carrier

Multidisciplinary / Arabidopsis thaliana / Saccharomyces cerevisiae / Mutation / Plant growth / Plant growth hormone / Arabidopsis / Auxin / Amino Acid Sequence / Gene Family / PLANT PROTEINS / Molecular Sequence Data / Plant growth hormone / Arabidopsis / Auxin / Amino Acid Sequence / Gene Family / PLANT PROTEINS / Molecular Sequence Data

Adult pilocytic astrocytomas: clinical features and molecular analysis

Treatment Outcome / Adolescent / Neuro-Oncology / Humans / Mutation / Female / Male / Young Adult / Aged / Middle Aged / Adult / Astrocytoma / Neurosciences / Brain Neoplasms / Female / Male / Young Adult / Aged / Middle Aged / Adult / Astrocytoma / Neurosciences / Brain Neoplasms

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report

Brain development / Brain / Mitochondrial DNA / Humans / Mutation / Female / Infant / Hepatic Encephalopathy / Mitochondrial Diseases / Liver Failure / Female / Infant / Hepatic Encephalopathy / Mitochondrial Diseases / Liver Failure

Arabidopsis thaliana VTC4 Encodes L-Galactose-1-P Phosphatase, a Plant Ascorbic Acid Biosynthetic Enzyme

Genetics / Biological Chemistry / Arabidopsis thaliana / Biological Sciences / Phylogeny / Humans / Mutation / vitamin C / Animals / Biological / Genetic Map / Arabidopsis / Enzyme / CHEMICAL SCIENCES / Ascorbic Acid / Active site / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Mannose / Galactose Binding / Myo-inositol / Molecular Sequence Data / Humans / Mutation / vitamin C / Animals / Biological / Genetic Map / Arabidopsis / Enzyme / CHEMICAL SCIENCES / Ascorbic Acid / Active site / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Mannose / Galactose Binding / Myo-inositol / Molecular Sequence Data

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

Neurochemistry / Membrane Proteins / Immunohistochemistry / Western blotting / Humans / Mutagenesis / Mutation / Female / Male / Glycosylation / Aged / Fluorescent Antibody Technique / Genotype / HeLa cells / Frontotemporal Dementia / Lysosomes / Neurosciences / Enzyme Linked Immunosorbent Assay / Cohort Studies / Isomerism / Mutagenesis / Mutation / Female / Male / Glycosylation / Aged / Fluorescent Antibody Technique / Genotype / HeLa cells / Frontotemporal Dementia / Lysosomes / Neurosciences / Enzyme Linked Immunosorbent Assay / Cohort Studies / Isomerism

Morphemic harmony as featural correspondence

Cognitive Science / Phonology / Morphology / Linguistics / Mutation / Classification / Lingua / Classification / Lingua

Skeletal consequences of familial hypocalciuric hypercalcaemia vs. primary hyperparathyroidism

Endocrinology / Vitamin D / Calcium / Comparative Study / Primary / Humans / Magnesium / Mutation / Clinical / Skeleton / Parathyroid Hormone / Alkaline phosphatase / Clinical Sciences / Phosphates / Primary hyperparathyroidism / Clinical Endocrinology / Cross Sectional Studies / Hypercalcemia / Creatinine / Humans / Magnesium / Mutation / Clinical / Skeleton / Parathyroid Hormone / Alkaline phosphatase / Clinical Sciences / Phosphates / Primary hyperparathyroidism / Clinical Endocrinology / Cross Sectional Studies / Hypercalcemia / Creatinine

Efficient Assembly of Photosystem II in Chlamydomonas reinhardtii Requires Alb3.1p, a Homolog of Arabidopsis ALBINO3

Genetics / Plant Biology / Mutation / Animals / Plant cell / Photosystem II / Chlamydomonas Reinhardtii / Biochemistry and cell biology / Photosystem II / Chlamydomonas Reinhardtii / Biochemistry and cell biology

Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma

Adolescent / Multidisciplinary / Humans / Mutation / Female / Melanoma / Male / Polymerase Chain Reaction / Young Adult / Gene Dosage / PLoS one / Aged / Middle Aged / Adult / Prognosis / Molecular Diagnostic Techniques / Melanoma / Male / Polymerase Chain Reaction / Young Adult / Gene Dosage / PLoS one / Aged / Middle Aged / Adult / Prognosis / Molecular Diagnostic Techniques

Dual Temporal Role of Plastid Sigma Factor 6 in Arabidopsis Development

Gene expression / Arabidopsis thaliana / Biological Sciences / Plant Physiology / Mutation / Polymerase Chain Reaction / Arabidopsis / Real Time / Time Factors / DNA Copy Number / Gene Family / Full Length Movies / Polymerase Chain Reaction / Arabidopsis / Real Time / Time Factors / DNA Copy Number / Gene Family / Full Length Movies

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