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Wyszukujesz frazę ""Point Mutation"" wg kryterium: Temat


Tytuł :
Heterokaryotic state of a point mutation (H249Y) in SDHB protein drives the evolution of thifluzamide resistance in Rhizoctonia solani.
Autorzy :
Miao J; State Key Laboratory of Crop Stress Biology for Arid Areas, College of Plant Protection, Northwest A&F University, Yangling, China.; Department of Plant Pathology, China Agricultural University, Beijing, China.
Mu W; Department of Plant Pathology, China Agricultural University, Beijing, China.; Key Laboratory of Eco-Environment and Leaf Tobacco Quality, Zhengzhou Tobacco Research Institute of China National Tobacco Corporation, Zhengzhou, China.
Bi Y; Department of Plant Pathology, China Agricultural University, Beijing, China.; Beijing Key Laboratory of New Technology in Agricultural Application, Beijing University of Agriculture, Beijing, China.
Zhang Y; Key Laboratory of Eco-Environment and Leaf Tobacco Quality, Zhengzhou Tobacco Research Institute of China National Tobacco Corporation, Zhengzhou, China.
Zhang S; Department of Plant Pathology, China Agricultural University, Beijing, China.
Song J; Key Laboratory of Eco-Environment and Leaf Tobacco Quality, Zhengzhou Tobacco Research Institute of China National Tobacco Corporation, Zhengzhou, China.
Liu X; State Key Laboratory of Crop Stress Biology for Arid Areas, College of Plant Protection, Northwest A&F University, Yangling, China.; Department of Plant Pathology, China Agricultural University, Beijing, China.
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Źródło :
Pest management science [Pest Manag Sci] 2021 Mar; Vol. 77 (3), pp. 1392-1400. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Rhizoctonia*/genetics
Anilides ; Molecular Docking Simulation ; Plant Diseases ; Thiazoles
SCR Organism :
Rhizoctonia solani
Czasopismo naukowe
Tytuł :
A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
Autorzy :
Meng F; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Zhou M; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Xiao Y; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Mao X; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Zheng J; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.
Lin J; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Lin T; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Ye Z; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Cang X; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Fu Y; Division of Otolaryngology-Head and Neck Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Wang M; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Guan MX; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.; Zhejiang Provincial Key Lab of Genetic and Developmental Disorder, Hangzhou, Zhejiang 310058, China.; Joint Institute of Genetics and Genome Medicine between Zhejiang University and University of Toronto, Hangzhou, Zhejiang 310058, China.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Jan 25; Vol. 49 (2), pp. 1075-1093.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Point Mutation*
Hearing Loss, Sensorineural/*genetics
RNA, Transfer, Ile/*genetics
Adenosine Triphosphate/biosynthesis ; Adult ; Archaeal Proteins/metabolism ; Autophagy ; Base Sequence ; Cell Line ; DNA, Mitochondrial/genetics ; Ethnic Groups/genetics ; Female ; Genetic Pleiotropy ; Hearing Loss, Sensorineural/ethnology ; Humans ; Isoleucine/metabolism ; Male ; Maternal Inheritance ; Membrane Potential, Mitochondrial ; Methanocaldococcus/enzymology ; Methylation ; Middle Aged ; Mitochondria/metabolism ; Molecular Dynamics Simulation ; Nucleic Acid Conformation ; Oxidative Phosphorylation ; Pedigree ; Protein Biosynthesis ; RNA Processing, Post-Transcriptional ; Recombinant Proteins/metabolism ; Transfer RNA Aminoacylation ; Young Adult ; tRNA Methyltransferases/metabolism
Czasopismo naukowe
Tytuł :
FireProtDB: database of manually curated protein stability data.
Autorzy :
Stourac J; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic.
Dubrava J; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.; Department of Information Systems, Faculty of Information Technology, Brno University of Technology, Brno, Czech Republic.
Musil M; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic.; Department of Information Systems, Faculty of Information Technology, Brno University of Technology, Brno, Czech Republic.
Horackova J; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.
Damborsky J; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic.
Mazurenko S; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.
Bednar D; Loschmidt Laboratories, Department of Experimental Biology and RECETOX, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Jan 08; Vol. 49 (D1), pp. D319-D324.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Protein*
Point Mutation*
Computational Biology/*methods
Machine Learning/*statistics & numerical data
Proteins/*chemistry
Datasets as Topic ; Internet ; Models, Molecular ; Molecular Sequence Annotation ; Protein Stability ; Proteins/genetics ; Software
Czasopismo naukowe
Tytuł :
Impact of Genetic Variability in ACE2 Expression on the Evolutionary Dynamics of SARS-CoV-2 Spike D614G Mutation.
Autorzy :
Huang SW; Model Development Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA.
Miller SO; Model Development Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD 21702, USA.
Yen CH; Graduate Institute of Natural Products, College of Pharmacy, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.; Drug Development and Value Creation Research Center, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.; National Natural Product Libraries and High-Throughput Screening Core Facility, Kaohsiung Medical University, Kaohsiung, 80708, Taiwan.
Wang SF; Center for Tropical Medicine and Infectious Disease, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.; Department of Medical Laboratory Science and Biotechnology, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.; Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, Taiwan.
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Źródło :
Genes [Genes (Basel)] 2020 Dec 24; Vol. 12 (1). Date of Electronic Publication: 2020 Dec 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Pandemics*
Point Mutation*
Angiotensin-Converting Enzyme 2/*genetics
COVID-19/*genetics
Receptors, Virus/*genetics
SARS-CoV-2/*genetics
Spike Glycoprotein, Coronavirus/*genetics
Africa/epidemiology ; Alleles ; Amino Acid Substitution ; Angiotensin-Converting Enzyme 2/biosynthesis ; Binding Sites ; COVID-19/ethnology ; COVID-19/transmission ; COVID-19/virology ; China/epidemiology ; Ethnic Groups/genetics ; Europe/epidemiology ; Evolution, Molecular ; Gene Expression ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; North America/epidemiology ; Protein Binding ; Protein Conformation ; Protein Domains ; Receptors, Virus/biosynthesis ; SARS-CoV-2/isolation & purification ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Robust detection of point mutations involved in multidrug-resistant Mycobacterium tuberculosis in the presence of co-occurrent resistance markers.
Autorzy :
Libiseller-Egger J; The Bioinformatics Group, School of Water, Energy and Environment, Cranfield University, Bedford, UK.; University of Natural Resources and Life Sciences, Vienna, Austria.; Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK.
Phelan J; Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK.
Campino S; Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK.
Mohareb F; The Bioinformatics Group, School of Water, Energy and Environment, Cranfield University, Bedford, UK.
Clark TG; Faculty of Infectious and Tropical Diseases, London School of Hygiene and Tropical Medicine, London, UK.; Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, UK.
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Źródło :
PLoS computational biology [PLoS Comput Biol] 2020 Dec 21; Vol. 16 (12), pp. e1008518. Date of Electronic Publication: 2020 Dec 21 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Point Mutation*
Drug Resistance, Multiple, Bacterial/*genetics
Mycobacterium tuberculosis/*genetics
Tuberculosis, Multidrug-Resistant/*microbiology
Algorithms ; Antitubercular Agents/pharmacology ; Genes, Bacterial ; Genetic Markers ; Genome-Wide Association Study ; Machine Learning ; Microbial Sensitivity Tests ; Models, Biological ; Mycobacterium tuberculosis/drug effects ; Phylogeny ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Identification of novel mutations in SARS-COV-2 isolates from Turkey.
Autorzy :
Rehman S; Department of Botany, Rawalpindi Women University, Rawalpindi, Pakistan. .; Department of Botany, Govt. Gordon College Rawalpindi, Rawalpindi, Pakistan. .
Mahmood T; Department of Plant Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.
Aziz E; Department of Botany, GDC Khanpur, Haripur, Pakistan.
Batool R; University Institute of Biochemistry and Biotechnology, PMAS-UAAR, Rawalpindi, Pakistan.
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Źródło :
Archives of virology [Arch Virol] 2020 Dec; Vol. 165 (12), pp. 2937-2944. Date of Electronic Publication: 2020 Oct 06.
Typ publikacji :
Journal Article
MeSH Terms :
Pandemics*
Point Mutation*
Betacoronavirus/*genetics
Coronavirus Infections/*diagnosis
Coronavirus Infections/*epidemiology
Pneumonia, Viral/*diagnosis
Pneumonia, Viral/*epidemiology
Spike Glycoprotein, Coronavirus/*genetics
Amino Acid Sequence ; Amino Acid Substitution ; Betacoronavirus/classification ; Betacoronavirus/isolation & purification ; Betacoronavirus/pathogenicity ; COVID-19 ; COVID-19 Testing ; Clinical Laboratory Techniques/methods ; Coronavirus Infections/transmission ; Coronavirus Infections/virology ; Humans ; Phylogeny ; Pneumonia, Viral/transmission ; Pneumonia, Viral/virology ; SARS-CoV-2 ; Sequence Alignment ; Sequence Homology, Amino Acid ; Turkey/epidemiology
Czasopismo naukowe
Tytuł :
Construction of the R17L mutant of MtC1LPMO for improved lignocellulosic biomass conversion by rational point mutation and investigation of the mechanism by molecular dynamics simulations.
Autorzy :
Guo X; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
An Y; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Chai C; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Sang J; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Jiang L; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Lu F; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Dai Y; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China.
Liu F; Key Laboratory of Industrial Fermentation Microbiology of the Ministry of Education, Tianjin 300457, PR China; Tianjin Key Laboratory of Industrial Microbiology, Tianjin 300457, PR China; College of Biotechnology, Tianjin University of Science & Technology, Tianjin 300457, PR China. Electronic address: .
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Źródło :
Bioresource technology [Bioresour Technol] 2020 Dec; Vol. 317, pp. 124024. Date of Electronic Publication: 2020 Aug 16.
Typ publikacji :
Journal Article
MeSH Terms :
Molecular Dynamics Simulation*
Point Mutation*
Biomass ; Lignin
Czasopismo naukowe
Tytuł :
A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.
Autorzy :
Shin S; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Hwang KA; Department of Research and Development, SML Genetree, Seoul, Korea.
Paik K; Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Park J; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, Korea.
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Źródło :
Hematology (Amsterdam, Netherlands) [Hematology] 2020 Dec; Vol. 25 (1), pp. 321-326.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Point Mutation*
Cytoskeletal Proteins/*genetics
Elliptocytosis, Hereditary/*genetics
Membrane Proteins/*genetics
Aged, 80 and over ; Elliptocytosis, Hereditary/complications ; Elliptocytosis, Hereditary/pathology ; Erythrocytes, Abnormal/metabolism ; Erythrocytes, Abnormal/pathology ; Female ; Humans ; Republic of Korea
Czasopismo naukowe
Tytuł :
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks.
Autorzy :
Li B; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, United States of America.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.; Department of Biological Sciences and Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee, United States of America.
Yang YT; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, United States of America.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.
Capra JA; Department of Biological Sciences and Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee, United States of America.
Gerstein MB; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, United States of America.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.; Department of Computer Science, Yale University, New Haven, Connecticut, United States of America.
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Źródło :
PLoS computational biology [PLoS Comput Biol] 2020 Nov 30; Vol. 16 (11), pp. e1008291. Date of Electronic Publication: 2020 Nov 30 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Neural Networks, Computer*
Point Mutation*
Thermodynamics*
Imaging, Three-Dimensional/*methods
Proteins/*chemistry
Computational Biology ; Protein Stability
Czasopismo naukowe
Tytuł :
The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).
Autorzy :
Alghamdi A; Biochemistry Department, King Saud University (KSU), Riyadh, Saudi Arabia.
Aldossary W; Biochemistry Department, King Saud University (KSU), Riyadh, Saudi Arabia.
Albahkali S; Stem Cells and Regenerative Medicine, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Alotaibi B; Stem Cells and Regenerative Medicine, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Alrfaei BM; Stem Cells and Regenerative Medicine, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
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Źródło :
PloS one [PLoS One] 2020 Nov 10; Vol. 15 (11), pp. e0241902. Date of Electronic Publication: 2020 Nov 10 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Point Mutation*
Astrocytes/*cytology
Cytochrome P-450 CYP1B1/*genetics
Glaucoma/*congenital
Mesenchymal Stem Cells/*cytology
Microglia/*cytology
Amino Acid Substitution ; Animals ; Apoptosis ; Astrocytes/metabolism ; CRISPR-Cas Systems ; Cell Proliferation ; Cells, Cultured ; Cytokines/metabolism ; Glaucoma/genetics ; Humans ; Male ; Mesenchymal Stem Cells/metabolism ; Microglia/metabolism ; Models, Animal ; NADP/metabolism ; Rats
Czasopismo naukowe
Tytuł :
A point mutation in the β-adrenergic-like octopamine receptor: possible association with amitraz resistance.
Autorzy :
Takata M; Faculty of Life and Environmental Science, Shimane University, Matsue, Japan.
Misato S; Faculty of Life and Environmental Science, Shimane University, Matsue, Japan.
Ozoe F; Faculty of Life and Environmental Science, Shimane University, Matsue, Japan.
Ozoe Y; Faculty of Life and Environmental Science, Shimane University, Matsue, Japan.
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Źródło :
Pest management science [Pest Manag Sci] 2020 Nov; Vol. 76 (11), pp. 3720-3728. Date of Electronic Publication: 2020 Jun 08.
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Adrenergic Agents ; Drug Resistance ; HEK293 Cells ; Humans ; Receptors, Biogenic Amine ; Toluidines/pharmacology
Czasopismo naukowe
Tytuł :
Expansion of paroxysmal nocturnal hemoglobinuria clones in MPLW515L mutation harboring primary myelofibrosis.
Autorzy :
Kirito K; Department of Hematology and Oncology, University of Yamanashi, 1110, Shimokato, Chuo-city, Yamanashi-ken, 409-3898, Japan. .
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Źródło :
Annals of hematology [Ann Hematol] 2020 Nov; Vol. 99 (11), pp. 2707-2709. Date of Electronic Publication: 2020 May 23.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Mutation, Missense*
Point Mutation*
Hemoglobinuria, Paroxysmal/*genetics
Primary Myelofibrosis/*genetics
Receptors, Thrombopoietin/*genetics
Amino Acid Substitution ; Cells, Cultured ; Clone Cells/pathology ; Hemoglobinuria, Paroxysmal/complications ; Hemoglobinuria, Paroxysmal/pathology ; Humans ; Male ; Middle Aged ; Primary Myelofibrosis/complications ; Primary Myelofibrosis/pathology
Raport
Tytuł :
The CYB5R3 and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.
Autorzy :
Gordeuk VR; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
Shah BN; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
Zhang X; Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
Thuma PE; Macha Research Trust, Choma, Zambia.
Zulu S; Macha Research Trust, Choma, Zambia.
Moono R; Macha Research Trust, Choma, Zambia.
Reading NS; University of Utah and ARUP Laboratories, Salt Lake City, Utah, USA.
Song J; University of Utah and ARUP Laboratories, Salt Lake City, Utah, USA.
Zhang Y; Division of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Nouraie M; Division of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Campbell A; Children's National Medical Center, Washington, District of Columbia, USA.
Minniti CP; Center for Sickle Cell Disease, Montefiore Medical Center, New York, New York, USA.
Rana SR; Department of Pediatrics and Child Health, Howard University Hospital, Washington, District of Columbia, USA.
Darbari DS; Children's National Medical Center, Washington, District of Columbia, USA.
Kato GJ; CSL Behring, King of Prussia, PA.
Niu M; Center for Sickle Cell Disease, Howard University, Washington, District of Columbia, USA.
Castro OL; Center for Sickle Cell Disease, Howard University, Washington, District of Columbia, USA.
Machado R; Indiana University School of Medicine, Indianapolis, IN.
Gladwin MT; Division of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Prchal JT; University of Utah, Salt Lake City, Utah.
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Źródło :
American journal of hematology [Am J Hematol] 2020 Nov; Vol. 95 (11), pp. 1269-1279. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Alleles*
Anemia, Sickle Cell*/genetics
Anemia, Sickle Cell*/metabolism
Anemia, Sickle Cell*/parasitology
Cytochrome-B(5) Reductase*/genetics
Cytochrome-B(5) Reductase*/metabolism
Malaria, Falciparum*/genetics
Malaria, Falciparum*/metabolism
Point Mutation*
Glucosephosphate Dehydrogenase/*genetics
Plasmodium falciparum/*metabolism
Child, Preschool ; Female ; Glucosephosphate Dehydrogenase/metabolism ; Humans ; Infant ; Male ; Severity of Illness Index ; Zambia
Czasopismo naukowe
Tytuł :
Impact of Early Pandemic Stage Mutations on Molecular Dynamics of SARS-CoV-2 M .
Autorzy :
Sheik Amamuddy O; Research Unit in Bioinformatics, Department of Microbiology and Biochemistry, Rhodes University, Grahamstown 6140, South Africa.
Verkhivker GM; Graduate Program in Computational and Data Sciences, Schmid College of Science and Technology, Chapman University, Orange, California 92866, United States.; Department of Biomedical and Pharmaceutical Sciences, Chapman University School of Pharmacy, Irvine, California 92618, United States.; Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093, United States.
Tastan Bishop Ö; Research Unit in Bioinformatics, Department of Microbiology and Biochemistry, Rhodes University, Grahamstown 6140, South Africa.
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Źródło :
Journal of chemical information and modeling [J Chem Inf Model] 2020 Oct 26; Vol. 60 (10), pp. 5080-5102. Date of Electronic Publication: 2020 Sep 16.
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Betacoronavirus/*genetics
Coronavirus Infections/*virology
Cysteine Endopeptidases/*genetics
Pneumonia, Viral/*virology
Viral Nonstructural Proteins/*genetics
Betacoronavirus/chemistry ; Binding Sites ; COVID-19 ; Coronavirus 3C Proteases ; Coronavirus Infections/epidemiology ; Cysteine Endopeptidases/chemistry ; Humans ; Molecular Dynamics Simulation ; Mutation ; Pandemics ; Pneumonia, Viral/epidemiology ; Protein Conformation ; Protein Multimerization ; SARS-CoV-2 ; Viral Nonstructural Proteins/chemistry
Czasopismo naukowe
Tytuł :
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Autorzy :
Uehara T; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Abe K; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Oginuma M; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Ishitani S; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Yoshihashi H; Department of Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Ishitani T; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan. .; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan. .
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Źródło :
Scientific reports [Sci Rep] 2020 Oct 16; Vol. 10 (1), pp. 17575. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Point Mutation*
Cyclin-Dependent Kinase 8/*genetics
Neurodevelopmental Disorders/*genetics
Abnormalities, Multiple/genetics ; Animals ; Child ; Craniofacial Abnormalities/genetics ; Cyclin-Dependent Kinase 8/antagonists & inhibitors ; Cyclin-Dependent Kinase 8/deficiency ; Cyclin-Dependent Kinase 8/physiology ; Cyclin-Dependent Kinases/physiology ; Embryo, Nonmammalian/abnormalities ; Embryo, Nonmammalian/enzymology ; Female ; Heart Defects, Congenital/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Intellectual Disability/genetics ; Loss of Function Mutation ; Male ; Protein Domains ; Protein Kinase Inhibitors/pharmacology ; RNA, Messenger/biosynthesis ; RNA, Messenger/genetics ; Zebrafish/embryology ; Zebrafish Proteins/antagonists & inhibitors ; Zebrafish Proteins/physiology
Czasopismo naukowe
Tytuł :
Products of Oxidative Guanine Damage Form Base Pairs with Guanine.
Autorzy :
Kino K; Kagawa School of Pharmaceutical Sciences, Tokushima Bunri University, 1314-1 Shido, Sanuki, Kagawa 769-2193, Japan.
Kawada T; Kagawa School of Pharmaceutical Sciences, Tokushima Bunri University, 1314-1 Shido, Sanuki, Kagawa 769-2193, Japan.
Hirao-Suzuki M; Laboratory of Xenobiotic Metabolism and Environmental Toxicology, Faculty of Pharmaceutical Sciences, Hiroshima International University (HIU), 5-1-1 Hiro-koshingai, Kure, Hiroshima 737-0112, Japan.
Morikawa M; Kagawa School of Pharmaceutical Sciences, Tokushima Bunri University, 1314-1 Shido, Sanuki, Kagawa 769-2193, Japan.
Miyazawa H; Kagawa School of Pharmaceutical Sciences, Tokushima Bunri University, 1314-1 Shido, Sanuki, Kagawa 769-2193, Japan.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Oct 15; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Base Pairing*
Point Mutation*
Guanine/*analogs & derivatives
Animals ; Betacoronavirus/genetics ; DNA Damage ; Guanine/metabolism ; Humans ; Oxidation-Reduction ; SARS-CoV-2
Czasopismo naukowe
Tytuł :
Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N -glycan synthesis.
Autorzy :
Akintayo A; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York.
Mayoral J; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York.
Asada M; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York.
Tang J; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York.
Sundaram S; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York.
Stanley P; Dept. of Cell Biology, Albert Einstein College of Medicine, New York, New York .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2020 Oct 09; Vol. 295 (41), pp. 14053-14064. Date of Electronic Publication: 2020 Aug 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Drosophila Proteins*/genetics
Drosophila Proteins*/metabolism
Membrane Proteins*/antagonists & inhibitors
Membrane Proteins*/genetics
Membrane Proteins*/metabolism
N-Acetylglucosaminyltransferases*/genetics
N-Acetylglucosaminyltransferases*/metabolism
Point Mutation*
Enzyme Inhibitors/*metabolism
Amino Acid Sequence ; Animals ; CHO Cells ; Cricetulus ; Drosophila melanogaster ; HL-60 Cells ; Humans ; Mannose-Binding Lectins/chemistry ; Plant Lectins/chemistry ; Polysaccharides/biosynthesis ; Polysaccharides/genetics ; Protein Binding ; Protein Domains ; Sequence Deletion
Czasopismo naukowe
Tytuł :
Synergistic mutations of two rapeseed AHAS genes confer high resistance to sulfonylurea herbicides for weed control.
Autorzy :
Guo Y; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China.
Cheng L; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.
Long W; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China.
Gao J; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China.
Zhang J; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.; Institute of Life Sciences, Jiangsu University, 301 Xuefu Road, Zhenjiang, 212013, Jiangsu, China.; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China.
Chen S; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China.; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China.
Pu H; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China. .; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China. .
Hu M; Institute of Industrial Crops, Jiangsu Academy of Agricultural Sciences, Nanjing Sub-center, National Center of Oil Crops Improvement, Key Laboratory of Cotton and Rapeseed (Nanjing), Ministry of Agriculture, Nanjing, 210014, China. .; Institute of Life Sciences, Jiangsu University, 301 Xuefu Road, Zhenjiang, 212013, Jiangsu, China. .; Provincial Key Laboratory of Agrobiology, Jiangsu Academy of Agricultural Sciences, Nanjing, 210014, China. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2020 Oct; Vol. 133 (10), pp. 2811-2824. Date of Electronic Publication: 2020 Jun 15.
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Acetolactate Synthase/*genetics
Brassica napus/*genetics
Herbicide Resistance/*genetics
Sulfonylurea Compounds/*pharmacology
Alleles ; Amino Acid Sequence ; Brassica napus/enzymology ; Crosses, Genetic ; Genes, Plant ; Herbicides/pharmacology ; Mutagenesis ; Protein Conformation ; Weed Control
Czasopismo naukowe
Tytuł :
The impacts of BCR-ABL1 mutations in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia who underwent allogeneic hematopoietic cell transplantation.
Autorzy :
Tachibana T; Department of Hematology, Kanagawa Cancer Center, 2-3-2 Nakao, Asahi-ku, Yokohama, 241-8515, Japan. .
Najima Y; Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.
Akahoshi Y; Division of Hematology, Jichi Medical University Saitama Medical Center, Saitama, Japan.
Hirabayashi S; Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Harada K; Department of Hematology and Oncology, Tokai University School of Medicine, Isehara, Japan.
Doki N; Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.
Uchida N; Department of Hematology, Federation of National Public Service Personnel Mutual Aid Associations, Toranomon Hospital, Tokyo, Japan.
Fukuda T; Department of Hematopoietic Stem Cell Transplantation, National Cancer Center Hospital, Tokyo, Japan.
Sawa M; Department of Hematology and Oncology, Anjo Kosei Hospital, Anjo, Japan.
Ogata M; Department of Hematology, Oita University Hospital, Oita, Japan.
Takada S; Leukemia Research Center, Saiseikai Mabashi Hospital, Gunma, Japan.
Tanaka M; Department of Hematology, Kanagawa Cancer Center, 2-3-2 Nakao, Asahi-ku, Yokohama, 241-8515, Japan.
Matsuhashi Y; Department of Hematology, Kawasaki Medical School Hospital, Kurashiki, Japan.
Tanaka J; Department of Hematology, Tokyo Women's Medical University, Tokyo, Japan.
Onizuka M; Department of Hematology and Oncology, Tokai University School of Medicine, Isehara, Japan.
Ichinohe T; Department of Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Atsuta Y; Japanese Data Center for Hematopoietic Cell Transplantation, Nagoya, Japan.
Kako S; Division of Hematology, Jichi Medical University Saitama Medical Center, Saitama, Japan.
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Corporate Authors :
Adult ALL Working Group of the Japan Society for Hematopoietic Cell Transplantation
Źródło :
Annals of hematology [Ann Hematol] 2020 Oct; Vol. 99 (10), pp. 2393-2404. Date of Electronic Publication: 2020 Aug 15.
Typ publikacji :
Journal Article
MeSH Terms :
Hematopoietic Stem Cell Transplantation*
Mutation, Missense*
Philadelphia Chromosome*
Point Mutation*
Fusion Proteins, bcr-abl/*genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma/*therapy
Adolescent ; Adult ; Aged ; Allografts ; Antineoplastic Agents/therapeutic use ; Combined Modality Therapy ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Japan/epidemiology ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/mortality ; Prognosis ; Protein Kinase Inhibitors/therapeutic use ; Recurrence ; Registries ; Retrospective Studies ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
SARS-CoV-2 samples may escape detection because of a single point mutation in the N gene.
Autorzy :
Ziegler K; Institute of Clinical Hygiene, Medical Microbiology and Infectiology, Paracelsus Medical University, Nuremberg, Germany.; Institute of Virology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg (FAU) Erlangen, Germany.
Steininger P; Institute of Virology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg (FAU) Erlangen, Germany.
Ziegler R; Institute of Clinical Hygiene, Medical Microbiology and Infectiology, Paracelsus Medical University, Nuremberg, Germany.
Steinmann J; Institute of Clinical Hygiene, Medical Microbiology and Infectiology, Paracelsus Medical University, Nuremberg, Germany.
Korn K; Institute of Virology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg (FAU) Erlangen, Germany.
Ensser A; Institute of Virology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg (FAU) Erlangen, Germany.
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Źródło :
Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin [Euro Surveill] 2020 Oct; Vol. 25 (39).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Clinical Laboratory Techniques*/methods
Pandemics*
Point Mutation*
Polymorphism, Single Nucleotide*
Real-Time Polymerase Chain Reaction*/methods
Betacoronavirus/*genetics
Coronavirus Infections/*diagnosis
Nucleoproteins/*genetics
Pneumonia, Viral/*diagnosis
RNA, Viral/*genetics
Viral Proteins/*genetics
Base Sequence ; Betacoronavirus/isolation & purification ; COVID-19 ; COVID-19 Testing ; Contact Tracing ; Coronavirus Infections/virology ; DNA Primers ; Diagnostic Errors ; False Negative Reactions ; Female ; Genes, Viral ; Humans ; Middle Aged ; Nasopharynx/virology ; Nucleoproteins/analysis ; Phylogeny ; Pneumonia, Viral/virology ; Romania ; SARS-CoV-2 ; Travel-Related Illness ; Viral Proteins/analysis
Czasopismo naukowe

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