- A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia
2024/08/16 by Kai-ying He, Kai-Ying He, Hong-ping Yu +17 · 2 citations
Medicine · #Biochemistry #Biology #Compound heterozygosity #Endoplasmic reticulum #Erythrocyte Function and Pathophysiology #Gene #Genetics #Hemoglobin #Immunology #Methemoglobin #Methemoglobinemia #Methemoglobinemia and Tumor Lysis Syndrome #Missense mutation #Molecular biology #Mutant #Mutant protein #Mutation #Neonatal Health and Biochemistry #Pathogenesis #Wild type
- Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia
2021/10/14 by Yuliia V. Nikonishyna, Nadine J. Ortner, Teresa Kaserer +7 · 1 citation
Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · Chemistry · #Genetic Neurodegenerative Diseases #Amyotrophic Lateral Sclerosis Research #Nuclear Structure and Function #Missense mutation #Spinocerebellar ataxia #Mutant #Mutation #Ataxia #Gating #Mutant protein #Protein subunit #Trinucleotide repeat expansion #Loss function #Genetics #Wild type #Biology #Molecular biology #Chemistry #Phenotype #Biophysics #Allele #Gene #Neuroscience
- Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL
2017/11/29 by Sandrine Degryse, Simon Bornschein, Charles E. de Bock +10 · 23 citations
Medicine · #Acute Lymphoblastic Leukemia research #Biology #Chronic Myeloid Leukemia Treatments #Cytotoxic T cell #Gene #Genetics #In vitro #Interleukin 12 #Janus kinase 3 #Mutant #Mutation #Myeloproliferative Neoplasms: Diagnosis and Treatment #Point mutation #Wild type
- Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants
2015/07/24 by Elías H. Blanco, Elias H. Blanco, Bruno Ramos-Molina +2 · 12 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Biotin and Related Studies #Cellular transport and secretion #Context (archaeology) #Endocrinology #Endoplasmic Reticulum Stress and Disease #Endoplasmic reticulum #Gene #Genetics #Hormone #Internal medicine #Medicine #Mutant #Nonsynonymous substitution #Prohormone #Prohormone convertase #Unfolded protein response #Wild type
- Enhanced Shewanella biofilm promotes bioelectricity generation
2015/04/20 by Ting Liu, Yangyang Yu, Yang‐Yang Yu +8 · 25 citations
Chemistry · Engineering · Environmental Science · #Bacteria #Biochemistry #Biofilm #Biology #Chemistry #Electrochemical Analysis and Applications #Electrochemical sensors and biosensors #Electrode #Gene #Genetics #Microbial Fuel Cells and Bioremediation #Microbial fuel cell #Microbiology #Mutant #Shewanella #Shewanella oneidensis #Strain (injury) #Wild type
- Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease
2011/12/14 by Ying Sun, Benjamin Liou, Yongping Xu +6 · 25 citations
Chemistry · Medicine · #Biochemistry #Biology #Carbohydrate Chemistry and Synthesis #Chemistry #Endocrinology #Enzyme #Ex vivo #Gene #Genetics #Immunology #In vivo #Internal medicine #Lung #Lysosomal Storage Disorders Research #Medicine #Molecular biology #Mutant #Pharmacology #Spleen #Trypanosoma species research and implications #Wild type
- A-Type Carrier Protein ErpA Is Essential for Formation of an Active Formate-Nitrate Respiratory Pathway in Escherichia coli K-12
2011/11/12 by Constanze Pinske, R. Gary Sawers · 12 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Energy · Environmental Science · #Bacterial Genetics and Biotechnology #Biochemistry #Biogenesis #Biology #Chemistry #Cofactor #Complementation #Enzyme #Formate dehydrogenase #Gene #Metalloenzymes and iron-sulfur proteins #Microbial Fuel Cells and Bioremediation #Mutant #Protein subunit #Scaffold protein #Signal transduction #Wild type
- Moderate heat stress induces state transitions in Arabidopsis thaliana
2011/05/27 by Sreedhar Nellaepalli, Nageswara Rao Mekala, Otto Zsiros +3 · 7 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Chemistry · #Arabidopsis #Arabidopsis thaliana #Biochemistry #Biology #Biophysics #Cell biology #Chemistry #Gene #Kinase #Mutant #Phosphorylation #Photosynthesis #Photosynthetic Processes and Mechanisms #Plant Gene Expression Analysis #Plant Stress Responses and Tolerance #Wild type
- Wild Type α-Synuclein Is Degraded by Chaperone-mediated Autophagy and Macroautophagy in Neuronal Cells
2008/06/20 by Tereza Vogiatzi, Maria Xilouri, Kostas Vekrellis +1 · 33 citations
Chemistry · Medicine · Neuroscience · #Alpha-synuclein #Apoptosis #Autophagy #Autophagy in Disease and Therapy #Biochemistry #Biology #Cell biology #Chaperone (clinical) #Chemistry #Gene #Internal medicine #Mutant #Nerve injury and regeneration #Parkinson's Disease Mechanisms and Treatments #Parkinson's disease #Proteasome #Protein aggregation #Protein degradation #Wild type
- Dominant‐negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q‐type Ca2+ channels
2007/07/24 by Chung‐Jiuan Jeng, Min‐Chen Sun, Yi‐Wen Chen +2 · 13 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Neuroscience · #Biochemistry #Biology #Biophysics #Calcium #Cell biology #Cellular transport and secretion #Chemistry #Cytoplasm #Endoplasmic reticulum #Gene #Genetic Neurodegenerative Diseases #HEK 293 cells #Ion channel regulation and function #Mutant #Mutation #Voltage-dependent calcium channel #Wild type #Xenopus
- Neuronal Nitric Oxide Synthase Is Necessary for Elimination of Giardia lamblia Infections in Mice
2006/01/01 by Erqiu Li, Ping Zhou, Steven M. Singer · 3 citations
Immunology and Microbiology · Medicine · #Parasitic Infections and Diagnostics #Parasitic infections in humans and animals #Giardia lamblia #Biology #Motility #Nitric oxide synthase #Nitric oxide #Parasite hosting #Wild type #In vivo #Microbiology #Giardia #Small intestine #Immunology #Endocrinology #Biochemistry #Cell biology #Gene
- A VicRK Signal Transduction System in Streptococcus mutans Affects gtfBCD , gbpB , and ftf Expression, Biofilm Formation, and Genetic Competence Development
2005/06/03 by M. Dilani Senadheera, Bernard Guggenheim, B. Guggenheim +10 · 25 citations
Dentistry · Medicine · #Antimicrobial Resistance in Staphylococcus #Bacteria #Biochemistry #Biofilm #Biology #Cell biology #Gene #Genetics #Histidine kinase #Microbiology #Molecular biology #Mutant #Operon #Oral microbiology and periodontitis research #Response regulator #Signal transduction #Streptococcal Infections and Treatments #Streptococcus mutans #Two-component regulatory system #Wild type
- Role of KatG catalase‐peroxidase in mycobacterial pathogenesis: countering the phagocyte oxidative burst
2004/04/30 by Vincent H. Ng, Jeffery S. Cox, Alexandra O. Sousa +2 · 1 citation
Immunology and Microbiology · Medicine · #Biochemistry #Biology #Catalase #Cell biology #Enzyme #Gene #Immunology #Microbiology #Molecular biology #Mutant #Mycobacterium tuberculosis #NADPH oxidase #Neutrophil, Myeloperoxidase and Oxidative Mechanisms #Oxidative stress #Peroxidase #Phagocyte #Phagocytosis #Pneumocystis jirovecii pneumonia detection and treatment #Reactive oxygen species #Respiratory burst #Tuberculosis #Tuberculosis Research and Epidemiology #Wild type
- Oxidative-Stress Resistance Mutants ofHelicobacter pylori
2002/06/15 by Adriana A. Olczak, Jonathan W. Olson, Robert J. Maier · 1 citation
Medicine · Veterinary · #Helicobacter pylori-related gastroenterology studies #Veterinary medicine and infectious diseases #Mycobacterium research and diagnosis #NAPA #Mutant #Biology #Wild type #Oxidative stress #Gene #Molecular biology #Mutation #Peroxidase #Biochemistry #Enzyme
- Point mutations confer loss of ATP‐induced human P2X7 receptor function
2002/01/04 by R.A. Worthington, Rebecca A. Worthington, M.L. Smart +11 · 13 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Health Professions · Medicine · #Adenosine and Purinergic Signaling #Adenosine triphosphate #Adolescent and Pediatric Healthcare #Biochemistry #Biology #Biophysics #Bipolar Disorder and Treatment #Cell biology #Chemistry #Gene #HEK 293 cells #Molecular biology #Mutant #Point mutation #Receptor #Transfection #Wild type #Xenopus
- Engineering the properties of a cold active enzyme through rational redesign of the active site
2001/10/01 by Iason Tsigos, Konstantinos Mavromatis, Maria Tzanodaskalaki +3 · 5 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Active site #Alkaline Phosphatase Research Studies #Biochemical and Molecular Research #Biochemistry #Biology #Biophysics #Chemistry #Enzyme #Enzyme assay #Flexibility (engineering) #Folate and B Vitamins Research #Gene #Mutagenesis #Mutant #Protein engineering #Psychrophile #Site-directed mutagenesis #Stereochemistry #Strain (injury) #Wild type
- Mouse Mutants Lacking the Type 2 IGF Receptor (IGF2R) Are Rescued from Perinatal Lethality inIgf2andIgf1rNull Backgrounds
1996/08/01 by Thomas Ludwig, Jonathan Eggenschwiler, Peter Fisher +4 · 30 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Cell biology #Endocrinology #Gene #Genetic Syndromes and Imprinting #Genetics #Growth Hormone and Insulin-like Growth Factors #Growth factor #Insulin-Like Growth Factor Receptor #Insulin-like growth factor #Insulin-like growth factor 1 receptor #Insulin-like growth factor 2 #Insulin-like growth factor 2 receptor #Internal medicine #Molecular biology #Mutant #Mutation #Prenatal Screening and Diagnostics #Receptor #Wild type
- Construction and characterization of an Azotobacter vinelandii strain with mutations in the genes encoding flavodoxin and ferredoxin I
1989/06/01 by A E Martin, A. E. Martin, Barbara K. Burgess +9 · 17 citations
Chemical Engineering · Energy · Environmental Science · #Ammonia Synthesis and Nitrogen Reduction #Azotobacter vinelandii #Azotobacteraceae #Bacteria #Biochemistry #Biology #Enzyme #Ferredoxin #Flavodoxin #Gene #Genetics #Metalloenzymes and iron-sulfur proteins #Microbial Fuel Cells and Bioremediation #Mutant #Nitrogen fixation #Nitrogenase #Wild type
- THE INDUCTION OF BIOCHEMICAL AND MORPHOLOGICAL MUTANTS IN THE MOSS PHYSCOMITRELLA PATENS
1968/04/01 by Paulinus P. Engel · 10 citations
Agricultural and Biological Sciences · Environmental Science · #Auxotrophy #Biochemistry #Biology #Botany #Botany and Plant Ecology Studies #Bryophyte Studies and Records #Chlorophyll #Gametophyte #Gene #Genetics #Methane sulfonate #Mutant #Peatlands and Wetlands Ecology #Physcomitrella patens #Pollen #Sexual reproduction #Spore #Sterility #Wild type