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Wyszukujesz frazę ""Mutation"" wg kryterium: Temat


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Tytuł :
Clinical application of liquid biopsy in cancer patients.
Autorzy :
Chang CM; Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan.; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Lin KC; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Hsiao NE; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Hong WA; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Lin CY; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Liu TC; Department of Hematology-Oncology, Chang Bing Show Chwan Memorial Hospital, 6 Lugong Road, Changhua, 505, Taiwan. .
Chang YS; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan. .; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan. .; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan. .; School of Medicine, China Medical University, Taichung, Taiwan. .
Chang JG; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan. .; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan. .; School of Medicine, China Medical University, Taichung, Taiwan. .; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan. .
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Źródło :
BMC cancer [BMC Cancer] 2022 Apr 15; Vol. 22 (1), pp. 413. Date of Electronic Publication: 2022 Apr 15.
Typ publikacji :
Journal Article
MeSH Terms :
Germ-Line Mutation*
Neoplasms*/genetics
Humans ; Liquid Biopsy ; Mutation ; Oncogenes
Czasopismo naukowe
Tytuł :
Improving the differentiation of closely related males by RMplex analysis of 30 Y-STRs with high mutation rates.
Autorzy :
Neuhuber F; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Dunkelmann B; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Grießner I; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Helm K; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Kayser M; Department of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Ralf A; Department of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address: .
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Źródło :
Forensic science international. Genetics [Forensic Sci Int Genet] 2022 May; Vol. 58, pp. 102682. Date of Electronic Publication: 2022 Feb 24.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Y*
Mutation Rate*
DNA Fingerprinting ; Fathers ; Genetics, Population ; Haplotypes ; Humans ; Male ; Microsatellite Repeats ; Mutation
Czasopismo naukowe
Tytuł :
A point mutation in human coilin prevents Cajal body formation.
Autorzy :
Basello DA; Institute of Molecular Genetics, Czech Academy of Science, Prague, Czech Republic.; Faculty of Science, Charles University, Prague 14220, Czech Republic.
Matera AG; Integrative Program for Biological and Genome Sciences, and Department of Biology, University of North Carolina, Chapel Hill, NC 27599-3280, USA.
Staněk D; Institute of Molecular Genetics, Czech Academy of Science, Prague, Czech Republic.
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Źródło :
Journal of cell science [J Cell Sci] 2022 Apr 15; Vol. 135 (8). Date of Electronic Publication: 2022 Apr 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Coiled Bodies*/genetics
Point Mutation*/genetics
Animals ; HeLa Cells ; Humans ; Mice ; Mutation/genetics ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism
Czasopismo naukowe
Tytuł :
Predicting protein stability changes upon single-point mutation: a thorough comparison of the available tools on a new dataset.
Autorzy :
Pancotti C; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Benevenuta S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Birolo G; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Alberini V; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Repetto V; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Sanavia T; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Capriotti E; Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Bologna, Italy.
Fariselli P; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
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Źródło :
Briefings in bioinformatics [Brief Bioinform] 2022 Mar 10; Vol. 23 (2).
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Proteins*/chemistry
Mutation ; Protein Stability ; Thermodynamics
Czasopismo naukowe
Tytuł :
How Sequence Context-Dependent Mutability Drives Mutation Rate Variation in the Genome.
Autorzy :
Oman M; Department of Ecology and Evolutionary Biology, University of Toronto, Ontario, Canada.; Department of Biology, University of Toronto, Mississauga, Ontario, Canada.
Alam A; Department of Cell and Systems Biology, University of Toronto, Ontario, Canada.
Ness RW; Department of Ecology and Evolutionary Biology, University of Toronto, Ontario, Canada.; Department of Biology, University of Toronto, Mississauga, Ontario, Canada.; Department of Cell and Systems Biology, University of Toronto, Ontario, Canada.
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Źródło :
Genome biology and evolution [Genome Biol Evol] 2022 Mar 02; Vol. 14 (3).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome*
Mutation Rate*
DNA ; Evolution, Molecular ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach.
Autorzy :
S UK; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
R B; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
D TK; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
Doss CGP; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
Zayed H; Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar.
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Źródło :
Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2022 Mar; Vol. 40 (4), pp. 1571-1585. Date of Electronic Publication: 2020 Oct 09.
Typ publikacji :
Journal Article
MeSH Terms :
Molecular Dynamics Simulation*
Mutation, Missense*
Guanosine Diphosphate/chemistry ; Guanosine Triphosphate/chemistry ; Mutation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/metabolism
Czasopismo naukowe
Tytuł :
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Autorzy :
Nappi M; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Barrese V; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Carotenuto L; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Lesca G; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
Labalme A; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
Ville D; Pediatric Neurology, Lyon University Hospital, Claude Bernard Lyon 1 University, 69677 Lyon, France.
Smol T; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
Rama M; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
Dieux-Coeslier A; Clinique de Génétique-Guy Fontaine, Centre Hospitalier Universitaire de Lille, F-59000 Lille, France.
Rivier-Ringenbach C; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche-sur-Saône, 69400 France.
Soldovieri MV; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
Ambrosino P; Department of Science and Technology, University of Sannio, Benevento, 82100 Italy.
Mosca I; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
Pusch M; Institute of Biophysics, Italian National Research Council, 16149 Genova, Italy.
Miceli F; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Taglialatela M; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Apr 12; Vol. 119 (15), pp. e2116887119. Date of Electronic Publication: 2022 Apr 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Drug Resistant Epilepsy*/genetics
Gain of Function Mutation*
KCNQ Potassium Channels*/genetics
Adolescent ; Child ; Female ; Humans ; Male ; Mutation ; Phenotype ; Probability
Czasopismo naukowe
Tytuł :
A universal probe system for low-abundance point mutation detection based on endonuclease IV.
Autorzy :
Jiang P; Department of Gynecology, Renmin Hospital of Wuhan University, Wuhan, China. .
Dong K; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Zhang W; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Wang H; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Xiao X; Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Chen N; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Cheng Y; Department of Gynecology, Renmin Hospital of Wuhan University, Wuhan, China. .
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Źródło :
The Analyst [Analyst] 2022 Apr 11; Vol. 147 (8), pp. 1534-1539. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji :
Journal Article
MeSH Terms :
Biosensing Techniques*/methods
Point Mutation*
DNA/genetics ; Deoxyribonuclease IV (Phage T4-Induced)/genetics ; Fluorescent Dyes ; Mutation
Czasopismo naukowe
Tytuł :
Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants.
Autorzy :
Ose NJ; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Butler BM; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Kumar A; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Kazan IC; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Sanderford M; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America.; Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America.
Kumar S; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America.; Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America.; Center for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Ozkan SB; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
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Źródło :
PLoS computational biology [PLoS Comput Biol] 2022 Apr 07; Vol. 18 (4), pp. e1010006. Date of Electronic Publication: 2022 Apr 07 (Print Publication: 2022).
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*/genetics
Proteins*/chemistry
Catalytic Domain/genetics ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
2-Dimensional genetic algorithm exhibited an essentiality of gene interaction for evolution.
Autorzy :
Akashi M; Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba 277-8568, Japan; Department of Liberal Arts, Faculty of Science, Tokyo University of Science, Shinjuku, Tokyo 162-8601, Japan. Electronic address: .
Fujihara I; College of General Education, Osaka Sangyo University, Daito-shi, Osaka 574-8530, Japan. Electronic address: .
Takemura M; Laboratory of Biology, Institute of Arts and Sciences, Tokyo University of Science, Tokyo 162-8601, Japan.
Furusawa M; Chitose Laboratory Corp., Biotechnology Research Center, 2-13-3 Nogawa-honcho, Miyamae-ku, Kawasaki, Kanagawa 216-0041, Japan.
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Źródło :
Journal of theoretical biology [J Theor Biol] 2022 Apr 07; Vol. 538, pp. 111044. Date of Electronic Publication: 2022 Feb 02.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptation, Physiological*/genetics
Mutation Rate*
Algorithms ; Biological Evolution ; Evolution, Molecular ; Mutation ; Phylogeny ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Somatic mutation rates scale with lifespan across mammals.
Autorzy :
Cagan A; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK. .
Baez-Ortega A; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Brzozowska N; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Abascal F; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Coorens THH; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Sanders MA; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.; Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Lawson ARJ; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Harvey LMR; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Bhosle S; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Jones D; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Alcantara RE; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Butler TM; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Hooks Y; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Roberts K; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Anderson E; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Lunn S; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Flach E; Wildlife Health Services, Zoological Society of London, London, UK.
Spiro S; Wildlife Health Services, Zoological Society of London, London, UK.
Januszczak I; Wildlife Health Services, Zoological Society of London, London, UK.; The Natural History Museum, London, UK.
Wrigglesworth E; Wildlife Health Services, Zoological Society of London, London, UK.
Jenkins H; Wildlife Health Services, Zoological Society of London, London, UK.
Dallas T; Wildlife Health Services, Zoological Society of London, London, UK.
Masters N; Wildlife Health Services, Zoological Society of London, London, UK.
Perkins MW; Institute of Zoology, Zoological Society of London, London, UK.
Deaville R; Institute of Zoology, Zoological Society of London, London, UK.
Druce M; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Bogeska R; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Milsom MD; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Neumann B; Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Gorman F; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Constantino-Casas F; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Peachey L; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.; Bristol Veterinary School, Faculty of Health Sciences, University of Bristol, Langford, UK.
Bochynska D; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.; Department of Pathology, Faculty of Veterinary Medicine, Universitatea de Stiinte Agricole si Medicina Veterinara, Cluj-Napoca, Romania.
Smith ESJ; Department of Pharmacology, University of Cambridge, Cambridge, UK.
Gerstung M; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.
Campbell PJ; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Murchison EP; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Stratton MR; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Martincorena I; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK. .
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Źródło :
Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 517-524. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Longevity*/genetics
Mutation Rate*
Animals ; Humans ; Mammals/genetics ; Mutagenesis/genetics ; Mutation
Czasopismo naukowe
Tytuł :
A frameshift deletion in the GDF9 gene in Icelandic Loa prolific sheep.
Autorzy :
Holm LE; Department of Molecular Biology and Genetics, Aarhus University, Aarhus C, Denmark.
Bendixen C; Department of Molecular Biology and Genetics, Aarhus University, Aarhus C, Denmark.
Eythorsdottir E; Faculty of Agricultural Sciences, Agricultural University of Iceland, Keldnaholt, Reykjavik, Iceland.
Hallsson JH; Faculty of Agricultural Sciences, Agricultural University of Iceland, Keldnaholt, Reykjavik, Iceland.
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Źródło :
Animal genetics [Anim Genet] 2022 Apr; Vol. 53 (2), pp. 220-223. Date of Electronic Publication: 2021 Dec 29.
Typ publikacji :
Journal Article
MeSH Terms :
Frameshift Mutation*
Growth Differentiation Factor 9*/genetics
Animals ; Female ; Iceland ; Litter Size/genetics ; Mutation ; Phenotype ; Pregnancy ; Sheep/genetics
Czasopismo naukowe
Tytuł :
SPOP-mutant prostate cancer: Translating fundamental biology into patient care.
Autorzy :
Bernasocchi T; Institute of Oncology Research, Bellinzona, TI, 6500, Switzerland; Università della Svizzera italiana (USI), Faculty of Biomedical Sciences, TI, 6900, Lugano, Switzerland.
Theurillat JP; Institute of Oncology Research, Bellinzona, TI, 6500, Switzerland; Università della Svizzera italiana (USI), Faculty of Biomedical Sciences, TI, 6900, Lugano, Switzerland. Electronic address: .
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Źródło :
Cancer letters [Cancer Lett] 2022 Mar 31; Vol. 529, pp. 11-18. Date of Electronic Publication: 2021 Dec 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers, Tumor*
Mutation*
Nuclear Proteins/*genetics
Prostatic Neoplasms/*etiology
Repressor Proteins/*genetics
Alleles ; Clinical Decision-Making ; Disease Management ; Disease Susceptibility ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Genotype ; Humans ; Loss of Function Mutation ; Male ; Models, Biological ; Models, Molecular ; Nuclear Proteins/chemistry ; Nuclear Proteins/metabolism ; Patient Care ; Prostatic Neoplasms/diagnosis ; Prostatic Neoplasms/metabolism ; Prostatic Neoplasms/therapy ; Protein Conformation ; Repressor Proteins/chemistry ; Repressor Proteins/metabolism ; Signal Transduction ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
Trade-off between reducing mutational accumulation and increasing commitment to differentiation determines tissue organization.
Autorzy :
Demeter M; Dept. Biological Physics, Eötvös University, Pázmány P. stny. 1A., H-1117, Budapest, Hungary.; ELTE-MTA 'Lendület' Evolutionary Genomics Research Group, Pázmány P. stny. 1A., H-1117, Budapest, Hungary.
Derényi I; Dept. Biological Physics, Eötvös University, Pázmány P. stny. 1A., H-1117, Budapest, Hungary. .; ELTE-MTA Statistical and Biological Physics Research Group, Eötvös University, Pázmány P. stny. 1A., H-1117, Budapest, Hungary. .
Szöllősi GJ; Dept. Biological Physics, Eötvös University, Pázmány P. stny. 1A., H-1117, Budapest, Hungary. .; ELTE-MTA 'Lendület' Evolutionary Genomics Research Group, Pázmány P. stny. 1A., H-1117, Budapest, Hungary. .; Institute of Evolution, Centre for Ecological Research, Konkoly-Thege M. u 29-33, Budapest, Hungary. .
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Źródło :
Nature communications [Nat Commun] 2022 Mar 29; Vol. 13 (1), pp. 1666. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation Accumulation*
Neoplasms*/genetics
Cell Differentiation/genetics ; Clonal Evolution ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Determining the effects of loss of function mutations in human cell lines.
Autorzy :
de Prisco N; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.
Botta S; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Translational Medical Science, University of Campania Luigi Vanvitelli, Caserta, 81100, Italy.
Lee W; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Rezazadeh S; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.
Chemiakine A; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.
Gennarino VA; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY 10032, USA.; Departments of Pediatrics and Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, NY 10032, USA.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, NY 10032, USA.
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Źródło :
STAR protocols [STAR Protoc] 2022 Mar 15; Vol. 3 (2), pp. 101232. Date of Electronic Publication: 2022 Mar 15 (Print Publication: 2022).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Loss of Function Mutation*
Proteins*
HEK293 Cells ; Humans ; Mutation ; RNA, Messenger/genetics ; RNA-Binding Proteins
Czasopismo naukowe
Tytuł :
Pairs of Mutually Compensatory Frameshifting Mutations Contribute to Protein Evolution.
Autorzy :
Biba D; Center of Life Sciences, Skolkovo Institute of Science and Technology, Moscow, Russia.
Klink G; Institute for Information Transmission Problems of the Russian Academy of Sciences (Kharkevitch Institute), Moscow, Russia.
Bazykin GA; Center of Life Sciences, Skolkovo Institute of Science and Technology, Moscow, Russia.; Institute for Information Transmission Problems of the Russian Academy of Sciences (Kharkevitch Institute), Moscow, Russia.
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Źródło :
Molecular biology and evolution [Mol Biol Evol] 2022 Mar 02; Vol. 39 (3).
Typ publikacji :
Journal Article
MeSH Terms :
INDEL Mutation*
Proteins*/genetics
Amino Acid Sequence ; Humans ; Mutation ; Open Reading Frames
Czasopismo naukowe
Tytuł :
Silent mutations reveal therapeutic vulnerability in RAS Q61 cancers.
Autorzy :
Kobayashi Y; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .; Department of Medicine, Harvard Medical School, Boston, MA, USA. .; Division of Molecular Pathology, National Cancer Center Research Institute, Tokyo, Japan. .
Chhoeu C; Experimental Therapeutics Core, Dana-Farber Cancer Institute, Boston, MA, USA.
Li J; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Price KS; Department of Medical Affairs, Guardant Health, Redwood City, CA, USA.
Kiedrowski LA; Department of Medical Affairs, Guardant Health, Redwood City, CA, USA.
Hutchins JL; Department of Medical Affairs, Guardant Health, Redwood City, CA, USA.
Hardin AI; Department of Medical Affairs, Guardant Health, Redwood City, CA, USA.
Wei Z; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.
Hong F; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard T. H. Chan School of Public Health, Boston, MA, USA.
Bahcall M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Gokhale PC; Experimental Therapeutics Core, Dana-Farber Cancer Institute, Boston, MA, USA.; Belfer Center for Applied Cancer Science, Dana-Farber Cancer Institute, Boston, MA, USA.
Jänne PA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .; Department of Medicine, Harvard Medical School, Boston, MA, USA. .; Belfer Center for Applied Cancer Science, Dana-Farber Cancer Institute, Boston, MA, USA. .; Lowe Center for Thoracic Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .
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Źródło :
Nature [Nature] 2022 Mar; Vol. 603 (7900), pp. 335-342. Date of Electronic Publication: 2022 Mar 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Neoplasms*/drug therapy
Neoplasms*/genetics
Silent Mutation*
Humans ; Mutation ; Oncogenes/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; RNA Splice Sites
Czasopismo naukowe
Tytuł :
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
Autorzy :
Adib E; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
El Zarif T; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Nassar AH; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Akl EW; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Abou Alaiwi S; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Mouhieddine TH; Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Esplin ED; Invitae Corporation, San Francisco, CA, USA.
Hatchell K; Invitae Corporation, San Francisco, CA, USA.
Nielsen SM; Invitae Corporation, San Francisco, CA, USA.
Rana HQ; Division of Population Sciences, Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA.
Choueiri TK; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Kwiatkowski DJ; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. .; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .
Sonpavde G; Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .
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Źródło :
British journal of cancer [Br J Cancer] 2022 Mar; Vol. 126 (5), pp. 797-803. Date of Electronic Publication: 2021 Dec 23.
Typ publikacji :
Journal Article
MeSH Terms :
Germ-Line Mutation*
Antigens, CD/*genetics
Breast Neoplasms/*genetics
Cadherins/*genetics
Carcinoma, Lobular/*genetics
Carcinoma, Signet Ring Cell/*genetics
Colorectal Neoplasms/*genetics
Stomach Neoplasms/*genetics
Adult ; Aged ; Breast Neoplasms/ethnology ; Carcinoma, Lobular/ethnology ; Carcinoma, Signet Ring Cell/ethnology ; Colorectal Neoplasms/ethnology ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation Rate ; Prevalence ; Sequence Analysis, DNA ; Stomach Neoplasms/ethnology ; Young Adult
Czasopismo naukowe
Tytuł :
Mutation rate and spectrum in obligately outcrossing Caenorhabditis elegans mutation accumulation lines subjected to RNAi-induced knockdown of the mismatch repair gene msh-2.
Autorzy :
Katju V; Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77845, USA.
Konrad A; Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77845, USA.; Faculdade de Ciência da Universidade de Lisboa (FCUL), CE3C-Centre for Ecology, Evolution and Environmental Changes, 1749-016 Lisboa, Portugal.
Deiss TC; Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77845, USA.
Bergthorsson U; Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77845, USA.
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Źródło :
G3 (Bethesda, Md.) [G3 (Bethesda)] 2022 Jan 04; Vol. 12 (1).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Caenorhabditis elegans*/genetics
Mutation Rate*
Animals ; DNA Mismatch Repair/genetics ; Female ; Male ; Mutation ; Mutation Accumulation ; RNA Interference
Czasopismo naukowe

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