Mutation

Presenilin endoproteolysis is an intramolecular cleavage

Cognitive Science / Catalysis / Membrane Proteins / IP / Molecular and cellular biology / Humans / Kidney / Mutation / Mice / Animals / Active site / Presenilin-2 / App / Cellular and Molecular Neuroscience / MEF / Neurosciences / Full Length Movies / Dimerization / Humans / Kidney / Mutation / Mice / Animals / Active site / Presenilin-2 / App / Cellular and Molecular Neuroscience / MEF / Neurosciences / Full Length Movies / Dimerization

Presenilin endoproteolysis is an intramolecular cleavage

Cognitive Science / Catalysis / Membrane Proteins / IP / Molecular and cellular biology / Humans / Kidney / Mutation / Mice / Animals / Active site / Presenilin-2 / App / Cellular and Molecular Neuroscience / MEF / Neurosciences / Full Length Movies / Dimerization / Humans / Kidney / Mutation / Mice / Animals / Active site / Presenilin-2 / App / Cellular and Molecular Neuroscience / MEF / Neurosciences / Full Length Movies / Dimerization

Intracellular Long-Chain Acyl CoAs Activate TRPV1 Channels

Phospholipids / Calcium / Multidisciplinary / Patch-clamp and imaging techniques / Lipids / Humans / Fatty acids / Mutation / PLoS one / Protein Secondary Structure Prediction / Amino Acid Sequence / Protein Binding / Site-directed Mutagenesis / Molecular Sequence Data / Humans / Fatty acids / Mutation / PLoS one / Protein Secondary Structure Prediction / Amino Acid Sequence / Protein Binding / Site-directed Mutagenesis / Molecular Sequence Data

Familial partial monosomy 7 and myelodysplasia

Cancer Genetics / Acute Myeloid Leukemia / Humans / Child / Myelodysplastic Syndrome / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool

Familial partial monosomy 7 and myelodysplasia

Cancer Genetics / Acute Myeloid Leukemia / Humans / Child / Myelodysplastic Syndrome / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool

Drosophila eiger Mutants Are Sensitive to Extracellular Pathogens

Microbiology / Immunology / Medical Microbiology / Membrane Proteins / Innate immunity / Drosophila / Mutation / Gram Positive / Animals / Salmonella Typhimurium / Beauveria / Gram Positive Bacteria / Gram-negative bacteria / Immunocompromised host / Tumor Necrosis Factor–α (TNF) / Burkholderia Cepacia / Gene Expression Regulation / Drosophila / Mutation / Gram Positive / Animals / Salmonella Typhimurium / Beauveria / Gram Positive Bacteria / Gram-negative bacteria / Immunocompromised host / Tumor Necrosis Factor–α (TNF) / Burkholderia Cepacia / Gene Expression Regulation

Loss of Prion Protein in a Transgenic Model of Amyotrophic Lateral Sclerosis

Cognitive Science / Protein Folding / Skeletal muscle biology / Motor neuron / Transgenic Mice / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis

GenoBase: comprehensive resource database of Escherichia coli K-12

Biological Sciences / Environmental Sciences / Mutation / Nucleic Acids / Internet

Pirh2 E3 Ubiquitin Ligase Monoubiquitinates DNA Polymerase Eta To Suppress Translesion DNA Synthesis

DNA replication / DNA damage / DNA repair / Biological Sciences / Molecular and cellular biology / Humans / Mutation / Mice / Animals / Amino Acid Sequence / Xeroderma Pigmentosum / Ubiquitination / Molecular Sequence Data / Humans / Mutation / Mice / Animals / Amino Acid Sequence / Xeroderma Pigmentosum / Ubiquitination / Molecular Sequence Data

Hippocampal hyperactivation in presymptomatic familial Alzheimer\'s disease

Magnetic Resonance Imaging / Face recognition (Psychology) / Brain Mapping / Hippocampus / Humans / Mutation / Female / Male / Young Adult / Clinical Sciences / Middle Aged / Oxygen / Adult / Presenilin-2 / Disease Progression / Annals / Alzheimer Disease / Neurosciences / Functional Laterality / Neuropsychological Tests / Mutation / Female / Male / Young Adult / Clinical Sciences / Middle Aged / Oxygen / Adult / Presenilin-2 / Disease Progression / Annals / Alzheimer Disease / Neurosciences / Functional Laterality / Neuropsychological Tests

Pacientes con criterios clínicos de síndrome de Lynch con y sin mutación en genes reparadores del ADN ( MLH1 y MSH2). Un reto para el clínico

DNA repair / Colorectal cancer / Spain / Genetic counseling / Humans / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma

Pacientes con criterios clínicos de síndrome de Lynch con y sin mutación en genes reparadores del ADN (MLH1 y MSH2). Un reto para el clínico

DNA repair / Colorectal cancer / Spain / Genetic counseling / Humans / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma

Mutagenesis of important amino acid reveals unconventional homologous internalization of β1-adrenergic receptor

Life Sciences / Western blotting / Internalization / Cell line / Humans / Mutation / cyclic AMP / D-Aspartic Acid / Lysine / Radioligand Assay / Amino Acid Profile / Transfection / Propranolol / Site-directed Mutagenesis / Ligands / Biochemistry and cell biology / Isoproterenol / Cell Membrane / Mutation / cyclic AMP / D-Aspartic Acid / Lysine / Radioligand Assay / Amino Acid Profile / Transfection / Propranolol / Site-directed Mutagenesis / Ligands / Biochemistry and cell biology / Isoproterenol / Cell Membrane

Progranulin in frontotemporal lobar degeneration and neuroinflammation

Immunology / Dementia / Inflammation / Gene expression / Brain development / Brain / Humans / Mutation / Animals / Neuroinflammation / Microglia / Central Nervous System / Brain injury / Clinical Sciences / Degeneration / Amino Acid Sequence / J / Neurosciences / Full Length Movies / Molecular Sequence Data / Brain / Humans / Mutation / Animals / Neuroinflammation / Microglia / Central Nervous System / Brain injury / Clinical Sciences / Degeneration / Amino Acid Sequence / J / Neurosciences / Full Length Movies / Molecular Sequence Data

Sulfite oxidase deficiency – An unusual late and mild presentation

Magnetic Resonance Imaging / Brain development / Humans / Mutation / Female / Seizures / Age of Onset / Seizures / Age of Onset

EL HÁBITAT: MUTACIONES EN LA CIUDAD Y EL TERRITORIO

City / Mutation / Habitat / Country

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