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Tytuł:
Self-loops in evolutionary graph theory: Friends or foes?
Autorzy:
Sharma N; Department of Theoretical Biology, Max Planck Institute for Evolutionary Biology, Plön, Germany.
Yagoobi S; Department of Theoretical Biology, Max Planck Institute for Evolutionary Biology, Plön, Germany.
Traulsen A; Department of Theoretical Biology, Max Planck Institute for Evolutionary Biology, Plön, Germany.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2023 Sep 01; Vol. 19 (9), pp. e1011387. Date of Electronic Publication: 2023 Sep 01 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
Biological Evolution*
Humans ; Mutation ; Exercise ; Histological Techniques
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models.
Autorzy:
Ryytty S; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Neulaniementie 2, 70211 Kuopio, Finland.
Hämäläinen RH; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Neulaniementie 2, 70211 Kuopio, Finland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 30; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mitochondria*/genetics
Point Mutation*
Animals ; Humans ; Mutation ; In Situ Hybridization ; DNA, Mitochondrial/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Both cell autonomous and non-autonomous processes modulate the association between replication timing and mutation rate.
Autorzy:
Vardi-Yaacov O; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Yaacov A; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Sharett Institute for Oncology, The Gaffin Center for Neuro-Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.; The Wohl Institute for Translational Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Rosenberg S; Sharett Institute for Oncology, The Gaffin Center for Neuro-Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.; The Wohl Institute for Translational Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Simon I; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 12; Vol. 13 (1), pp. 13143. Date of Electronic Publication: 2023 Aug 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Neoplasms*/pathology
Humans ; Mutation ; DNA Repair/genetics ; DNA Damage/genetics ; DNA Replication/genetics ; Genome, Human
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Updated benchmarking of variant effect predictors using deep mutational scanning.
Autorzy:
Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
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Źródło:
Molecular systems biology [Mol Syst Biol] 2023 Aug 08; Vol. 19 (8), pp. e11474. Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Benchmarking*
Mutation, Missense*
Humans ; Mutation ; Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
3DVizSNP: a tool for rapidly visualizing missense mutations identified in high throughput experiments in iCn3D.
Autorzy:
Sierk M; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA. .
Ratnayake S; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Wagle MM; Faculty of Pharmacy, University of Grenoble Alpes, Grenoble, France.; Department of Bioinformatics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, 576104, India.; School of Mathematics and Statistics, Faculty of Science, and Computational Systems Biology Group, Children's Medical Research Institute, University of Sydney, Camperdown, NSW, Australia.
Chen B; Digital Services and Solutions Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Park B; Digital Services and Solutions Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Wang J; National Center for Biotechnology Information, National Library of Medicine, NIH, Bethesda, MD, 20894, USA.
Youkharibache P; Cancer Data Science Laboratory, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, 20892, USA.
Meerzaman D; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2023 Jun 09; Vol. 24 (1), pp. 244. Date of Electronic Publication: 2023 Jun 09.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Computational Biology*/methods
Genomics/methods ; Software ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Polypeptide Substrate Accessibility Hypothesis: Gain-of-Function R206H Mutation Allosterically Affects Activin Receptor-like Protein Kinase Activity.
Autorzy:
Groppe JC; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Lu G; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Tandang-Silvas MR; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Pathi A; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Konda S; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Wu J; Department of Biomedical Sciences, Texas A&M University College of Dentistry, 3302 Gaston Ave, Dallas, TX 75246, USA.
Le VQ; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.; Program in Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.
Culbert AL; Department of Orthopaedics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Shore EM; Department of Orthopaedics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Wharton KA; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Kaplan FS; Department of Orthopaedics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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Źródło:
Biomolecules [Biomolecules] 2023 Jul 14; Vol. 13 (7). Date of Electronic Publication: 2023 Jul 14.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gain of Function Mutation*
Activin Receptors, Type I*/genetics
Activin Receptors, Type I*/metabolism
Animals ; Mice ; Activin Receptors/genetics ; Fibroblasts/metabolism ; Mutation ; Peptides/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sequential mutations in exponentially growing populations.
Autorzy:
Nicholson MD; Edinburgh Cancer Research, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
Cheek D; Center for Systems Biology, Department of Radiology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, Massachusetts, United States of America.
Antal T; School of Mathematics and Maxwell Institute for Mathematical Sciences, University of Edinburgh, Edinburgh, United Kingdom.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2023 Jul 10; Vol. 19 (7), pp. e1011289. Date of Electronic Publication: 2023 Jul 10 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Humans ; Mutation ; Probability ; Bacteria/genetics ; Models, Genetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome.
Autorzy:
Adams CJ; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Conery M; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Auerbach BJ; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Jensen ST; Department of Statistics and Data Science, The Wharton School at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Mathieson I; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Voight BF; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Jul 07; Vol. 19 (7), pp. e1010807. Date of Electronic Publication: 2023 Jul 07 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation Rate*
Genome, Human*/genetics
Humans ; Bayes Theorem ; Mutation ; Polymorphism, Genetic ; Markov Chains ; Monte Carlo Method
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Environment assisted quantum model for studying RNA-DNA-error correlation created due to the base tautomery.
Autorzy:
Ghasemi F; Department of Energy Engineering, Sharif University of Technology, P.O. Box 11365-9516, Tehran, Iran. .
Tirandaz A; Department of Chemistry, Bu-Ali Sina University, Hamedan, Iran. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jul 04; Vol. 13 (1), pp. 10788. Date of Electronic Publication: 2023 Jul 04.
Typ publikacji:
Journal Article
MeSH Terms:
RNA*/genetics
Point Mutation*
RNA, Messenger/genetics ; Mutation ; DNA/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Autorzy:
Liu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Hu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Duan Y; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Qin R; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Guo C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Zhou H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Liu H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Liu C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2169. Date of Electronic Publication: 2023 Mar 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Mutation, Missense*
Periventricular Nodular Heterotopia*/genetics
Periventricular Nodular Heterotopia*/pathology
Humans ; Infant ; Male ; Muscle Hypotonia ; Mutation ; Seizures
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia.
Autorzy:
Buthut M; German Center for Neurodegenerative Diseases (DZNE) Berlin, Berlin, Germany. .; Department of Psychiatry and Neurosciences, Clinical Neurotechnology Laboratory, Neuroscience Research Center, Campus Charité Mitte (CCM), Charité - Universitätsmedizin Berlin, Berlin, Germany. .; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany. .
Reber P; Department of Psychiatry and Neurosciences, Clinical Neurotechnology Laboratory, Neuroscience Research Center, Campus Charité Mitte (CCM), Charité - Universitätsmedizin Berlin, Berlin, Germany.
Siebert E; Department of Neuroradiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Eisenhut K; Institute of Clinical Neuroimmunology, University Hospital and Biomedical Center, Ludwig-Maximilians-Universität, Munich, Germany.
Thaler F; Institute of Clinical Neuroimmunology, University Hospital and Biomedical Center, Ludwig-Maximilians-Universität, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Finck J; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.
Soekadar SR; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.
Prüss H; German Center for Neurodegenerative Diseases (DZNE) Berlin, Berlin, Germany.; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, Berlin, Germany.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jul; Vol. 44 (7), pp. 2581-2585. Date of Electronic Publication: 2023 Mar 10.
Typ publikacji:
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Frameshift Mutation*
Frontotemporal Dementia*/diagnosis
Frontotemporal Dementia*/genetics
Female ; Humans ; Adult ; Mutation/genetics ; Membrane Glycoproteins/genetics ; Receptors, Immunologic/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Autorzy:
Wei CH; Department of Pathology, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Shehayeb S; Department of Population Sciences, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Santiago NL; Department of Surgery, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Kruper L; Department of Surgery, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Han E; Department of Surgery, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Wang E; Department or Medical Oncology & Therapeutics Research, City of Hope Comprehensive Cancer Institute, Duarte, CA, United States of America.
Cristea M; Department or Medical Oncology & Therapeutics Research, City of Hope Comprehensive Cancer Institute, Duarte, CA, United States of America.
Rodriguez-Rodriguez L; Department of Surgery, City of Hope Comprehensive Cancer Institute, Duarte, California, United States of America.
Yost SE; Department or Medical Oncology & Therapeutics Research, City of Hope Comprehensive Cancer Institute, Duarte, CA, United States of America.
Stewart D; Department or Medical Oncology & Therapeutics Research, City of Hope Comprehensive Cancer Institute, Duarte, CA, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Jun 13; Vol. 18 (6), pp. e0286998. Date of Electronic Publication: 2023 Jun 13 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Germ-Line Mutation*
Carcinoma*
Humans ; Female ; Middle Aged ; Health Promotion ; Retrospective Studies ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutators can drive the evolution of multi-resistance to antibiotics.
Autorzy:
Gifford DR; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Department of Earth and Environmental Sciences, School of Natural Sciences, Faculty of Science and Engineering, The University of Manchester, Manchester, United Kingdom.
Berríos-Caro E; Department of Physics and Astronomy, School of Natural Sciences, Faculty of Science and Engineering, The University of Manchester, Manchester, United Kingdom.; Department of Evolutionary Theory, Max Planck Institute for Evolutionary Biology, Plön, Germany.; Department of Evolutionary Ecology and Genetics, Christian-Albrechts-University of Kiel, Kiel, Germany.
Joerres C; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
Suñé M; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
Forsyth JH; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
Bhattacharyya A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
Galla T; Department of Physics and Astronomy, School of Natural Sciences, Faculty of Science and Engineering, The University of Manchester, Manchester, United Kingdom.; Instituto de Física Interdisciplinar y Sistemas Complejos, IFISC (CSIC-UIB), Campus Universitat Illes Balears, Palma de Mallorca, Spain.
Knight CG; Department of Earth and Environmental Sciences, School of Natural Sciences, Faculty of Science and Engineering, The University of Manchester, Manchester, United Kingdom.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Jun 13; Vol. 19 (6), pp. e1010791. Date of Electronic Publication: 2023 Jun 13 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Anti-Bacterial Agents*/pharmacology
Mutation Rate*
Mutation ; Escherichia coli/genetics ; Bacteria/genetics ; Evolution, Molecular
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Generation of sheep with defined FecB mutation using prime editing.
Autorzy:
Zhou S; College of Veterinary Medicine, Northwest A&F University, Yangling, 712100, China.; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Lenk LJ; Institute of Farm Animal Genetics, Friedrich-Loeffler-Institut, 31535, Neustadt, Germany.
Gao Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Wang Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Zhao X; College of Veterinary Medicine, Northwest A&F University, Yangling, 712100, China.
Pan M; College of Veterinary Medicine, Northwest A&F University, Yangling, 712100, China.
Huang S; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Sun K; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Kalds P; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.; Department of Animal and Poultry Production, Faculty of Environmental Agricultural Sciences, Arish University, El-Arish, 45511, Egypt.
Luo Q; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China.
Lillico S; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.
Sonstegard T; Recombinetics, St. Paul, MN, 55121, USA.
Scholl UI; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10115, Berlin, Germany.
Ma B; College of Veterinary Medicine, Northwest A&F University, Yangling, 712100, China.
Petersen B; Institute of Farm Animal Genetics, Friedrich-Loeffler-Institut, 31535, Neustadt, Germany. .
Chen Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China. .; International Joint Agriculture Research Center for Animal Bio-Breeding, Ministry of Agriculture and Rural Affairs, Yangling, 712100, China. .
Wang X; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, China. .; International Joint Agriculture Research Center for Animal Bio-Breeding, Ministry of Agriculture and Rural Affairs, Yangling, 712100, China. .
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Źródło:
BMC genomics [BMC Genomics] 2023 Jun 12; Vol. 24 (1), pp. 313. Date of Electronic Publication: 2023 Jun 12.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Blastocyst*
Humans ; Animals ; Swine ; Sheep ; Mutation ; Livestock ; Nucleotides ; G Protein-Coupled Inwardly-Rectifying Potassium Channels
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Full-scale network analysis reveals properties of the FV protein structure organization.
Autorzy:
Ferreira-Martins AJ; Center for Advanced Analytics, Itaú Unibanco, São Paulo, Brazil.
Castaldoni R; Center for Advanced Analytics, Itaú Unibanco, São Paulo, Brazil.
Alencar BM; Institute of Computing, Federal University of Bahia, Salvador, Brazil.
Ferreira MV; Institute of Computing, Federal University of Bahia, Salvador, Brazil.
Nogueira T; Institute of Computing, Federal University of Bahia, Salvador, Brazil.
Rios RA; Institute of Computing, Federal University of Bahia, Salvador, Brazil.
Lopes TJS; Center for Regenerative Medicine, National Centre for Child Health and Development Research Institute, 2-10-1 Okura, Setagaya, Tokyo, 157-8535, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jun 12; Vol. 13 (1), pp. 9546. Date of Electronic Publication: 2023 Jun 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Factor V*
Point Mutation*
Humans ; Mutation ; Algorithms ; Biological Evolution
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigating the novel-binding site of RPA2 on Menin and predicting the effect of point mutation of Menin through protein-protein interactions.
Autorzy:
Kaur G; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Prajapat M; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Singh H; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Sarma P; Department of Pharmacology, AIIMS, Guwahati, India.
Bhadada SK; Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Shekhar N; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Sharma S; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Sinha S; Department of Experimental Medicine and Biotechnology, PGIMER, Chandigarh, India.
Kumar S; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Prakash A; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India.
Medhi B; Department of Pharmacology, Postgraduate Institute of Medical Education and Research (PGIMER), Research Block B, 4th Floor, Lab No 4044, Chandigarh, 160012, India. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jun 08; Vol. 13 (1), pp. 9337. Date of Electronic Publication: 2023 Jun 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
Multiple Endocrine Neoplasia Type 1*
Humans ; Mutation ; Transcription Factors/genetics ; Binding Sites ; Amino Acids/genetics ; Replication Protein A/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Possible involvement of silent mutations in cancer pathogenesis and evolution.
Autorzy:
Kikutake C; Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
Suyama M; Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2023 May 10; Vol. 13 (1), pp. 7593. Date of Electronic Publication: 2023 May 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Silent Mutation*
Neoplasms*/genetics
Humans ; Evolution, Molecular ; Mutation ; Codon
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.
Autorzy:
Steensma MJ; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands. .
Lee YL; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Bouwman AC; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Pita Barros C; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Derks MFL; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.; Topigs Norsvin Research Center, Schoenaker 6, Beuningen, 6641 SZ, the Netherlands.
Bink MCAM; Hendrix Genetics, P.O. Box 114, Boxmeer, 5830 AC, the Netherlands.
Harlizius B; Topigs Norsvin Research Center, Schoenaker 6, Beuningen, 6641 SZ, the Netherlands.
Huisman AE; Hendrix Genetics, P.O. Box 114, Boxmeer, 5830 AC, the Netherlands.
Crooijmans RPMA; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Groenen MAM; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Mulder HA; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Rochus CM; University of Guelph, Centre for Genetic Improvement of Livestock, 50 Stone Rd E, Guelph, O N, N1G 2W1, Canada.
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Źródło:
BMC genomics [BMC Genomics] 2023 Apr 18; Vol. 24 (1), pp. 208. Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:
Journal Article
MeSH Terms:
Germ-Line Mutation*
Germ Cells*
Animals ; Swine/genetics ; Mutation ; Whole Genome Sequencing ; Haplotypes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.
Autorzy:
Liao K; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Carlson J; Department of Integrative Biology, University of Texas at Austin, Austin, TX 78712, USA.; Department of Population Health, University of Texas at Austin, Austin, TX 78712, USA.
Zöllner S; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2023 Apr 11; Vol. 13 (4).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetics, Population*
Mutation Rate*
Humans ; Gene Frequency ; Mutation ; Nucleotides
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast.
Autorzy:
Tu X; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
Wang F; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
Liti G; IRCAN, INSERM, Université Côte d'Azur, 06107 Nice, France.
Breitenbach M; Department of Biosciences, University of Salzburg, 5020 Salzburg, Austria.
Yue JX; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
Li J; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
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Źródło:
Biomolecules [Biomolecules] 2023 Mar 09; Vol. 13 (3). Date of Electronic Publication: 2023 Mar 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Saccharomyces cerevisiae*/genetics
Mutation Rate*
Humans ; Mutation ; Genomic Instability ; DNA, Mitochondrial/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 534509

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