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Tytuł:
An in-silico analysis of OGT gene association with diabetes mellitus.
Autorzy:
Ayodele AO; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Udosen B; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.
Oluwagbemi OO; Department of Computer Science and Information Technology, Faculty of Natural and Applied Sciences, Sol Plaatje University, 8301, Kimberley, South Africa.; Department of Mathematical Sciences, Stellenbosch University, 7602, Stellenbosch, South Africa.
Oladipo EK; Laboratory of Molecular Biology, Immunology and Bioinformatics, Department of Microbiology, Adeleke University, 232104, Ede, Nigeria.; Genomics Unit, Helix Biogen Institute, 210214, Ogbomoso, Nigeria.
Omotuyi I; Institute for Drug Research and Development, S.E. Bogoro Center, Afe Babalola University, Ado Ekiti, Nigeria.; Molecular Biology and Molecular Simulation Center (Mols&Sims), Ado Ekiti, Nigeria.
Isewon I; Computer and Information Sciences Department, Covenant University, Ota, Ogun State, Nigeria.
Nash O; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Soremekun O; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda.
Fatumo S; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria. .; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda. .; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda. .
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Źródło:
BMC research notes [BMC Res Notes] 2024 Mar 27; Vol. 17 (1), pp. 89. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Diabetes Mellitus*/genetics
Humans ; Molecular Docking Simulation ; Ligands ; Mutation ; Protein Processing, Post-Translational
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Autorzy:
Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.
Zhang J; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Gao J; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Ding G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Jiang H; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Liu Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China. .; School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, 441053, China. .
Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China. .; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, 430071, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Nystagmus, Congenital*/genetics
Humans ; Base Sequence ; Membrane Proteins/genetics ; Cytoskeletal Proteins/genetics ; Pedigree ; DNA Mutational Analysis ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Statistical modeling to quantify the uncertainty of FoldX-predicted protein folding and binding stability.
Autorzy:
Sapozhnikov Y; Program in Bioinformatics and Computational Biology, University of Idaho, Moscow, ID, 83844, USA.
Patel JS; Department of Chemical and Biological Engineering, University of Idaho, Moscow, ID, 83844, USA.; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA.
Ytreberg FM; Department of Physics, University of Idaho, Moscow, ID, 83844, USA.; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA.
Miller CR; Department of Biological Sciences, University of Idaho, Moscow, ID, 83844, USA. .; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2023 Nov 12; Vol. 24 (1), pp. 426. Date of Electronic Publication: 2023 Nov 12.
Typ publikacji:
Journal Article
MeSH Terms:
Protein Folding*
Mutation, Missense*
Uncertainty ; Mutation ; Molecular Dynamics Simulation ; Protein Stability ; Protein Binding
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sequence dependencies and mutation rates of localized mutational processes in cancer.
Autorzy:
Poulsgaard GA; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Sørensen SG; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Juul RI; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Nielsen MM; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Pedersen JS; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark. .; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. .; Bioinformatics Research Centre (BiRC), Aarhus University, University City 81, Building 1872, 3Rd Floor, 8000, Aarhus C, Denmark. .
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Źródło:
Genome medicine [Genome Med] 2023 Aug 17; Vol. 15 (1), pp. 63. Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Humans ; Mutation ; DNA Damage ; Genomics
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:
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:
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:
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
Autorzy:
Wu S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Wang X; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Dai S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Zhang G; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Zhou J; Division of Ultrasound, West China Hospital of Sichuan University, Chengdu, 610041, People's Republic of China. .
Shen Y; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 12; Vol. 17 (1), pp. 413. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*/genetics
Kidney*/pathology
Humans ; Exome Sequencing/methods ; Mutation ; RNA, Messenger ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
IndelsRNAmute: predicting deleterious multiple point substitutions and indels mutations.
Autorzy:
Churkin A; Department of Software Engineering, Sami Shamoon College of Engineering, Beersheba, Israel. .
Ponty Y; Laboratoire d'Informatique de l'École Polytechique (LIX CNRS UMR 7161), Ecole Polytechnique, Palaiseau, France.
Barash D; Department of Computer Science, Ben-Gurion University, Beersheba, Israel.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2022 Oct 14; Vol. 23 (Suppl 8), pp. 424. Date of Electronic Publication: 2022 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
INDEL Mutation*
RNA*/chemistry
RNA*/genetics
Mutation ; Point Mutation ; Sequence Analysis, RNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
Autorzy:
Cheng SM; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Su YY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chiang NJ; Department of Oncology, Taipei Veterans General Hospital, Taipei, Taiwan.; School of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Wang CJ; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chao YJ; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Huang CJ; Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Tsai HJ; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chen SH; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chang CY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Tsai CR; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Li YJ; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Yen CJ; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chuang SC; Division of General and Digestive Surgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Department of Surgery, Faculty of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chang JS; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan.
Shan YS; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .; Department of Surgery, National Cheng-Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .
Hwang DY; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan. .; Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan. .; Center for Biomarkers and Biotech Drugs, Department of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan. .; Precision Medicine Ph.D. Program, National Tsing Hua University, Hsinchu, Taiwan. .
Chen LT; National Institute of Cancer Research, National Health Research Institutes, Tainan, Taiwan. .; Deparment of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. .; Department of Internal Medicine, Kaohsiung Medical University Hospital and Center for Cancer Research, Kaohsiung Medical University, Kaohsiung, Taiwan. .
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Źródło:
Journal of biomedical science [J Biomed Sci] 2024 Feb 13; Vol. 31 (1), pp. 21. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Germ-Line Mutation*
Pancreatic Neoplasms*/drug therapy
Pancreatic Neoplasms*/genetics
Humans ; Taiwan ; Homologous Recombination ; Genes, BRCA2 ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pathogenic somatic alterations of DDR genes in lung cancer are significantly different from germline mutations and are associated with more unstable genomes.
Autorzy:
Wang H; Department of Oncology, Tianjin Union Medical Center of Nankai University, Tianjin, China.
Zhao Y; Department of Oncology, Qinhuangdao Fourth Hospital, Qinhuangdao, China.
Wang F; The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Zhu X; The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Luo N; The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Sun T; The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Qi C; The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China.
Li X; Cardiothoracic Surgery Department, Tianjin Medical University General Hospital, Tianjin, China. .
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Źródło:
Journal of translational medicine [J Transl Med] 2022 Sep 06; Vol. 20 (1), pp. 408. Date of Electronic Publication: 2022 Sep 06.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ-Line Mutation*/genetics
Lung Neoplasms*/genetics
Humans ; Mutation/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pan-cancer integrative analysis of whole-genome De novo somatic point mutations reveals 17 cancer types.
Autorzy:
Ghareyazi A; Bioinformatics and Computational Biology Lab, Department of Computer Engineering, Sharif University of Technology, Tehran, 11365, Iran.
Kazemi A; Bioinformatics and Computational Biology Lab, Department of Computer Engineering, Sharif University of Technology, Tehran, 11365, Iran.; Department of Computer Engineering, Simon Fraser University, Burnaby, BC, 1S6, Canada.
Hamidieh K; Department of Computer Science, University of Toronto, Toronto, ON, M5S 3H2, Canada.
Dashti H; Bioinformatics and Computational Biology Lab, Department of Computer Engineering, Sharif University of Technology, Tehran, 11365, Iran.
Tahaei MS; Bioinformatics and Computational Biology Lab, Department of Computer Engineering, Sharif University of Technology, Tehran, 11365, Iran.
Rabiee HR; Bioinformatics and Computational Biology Lab, Department of Computer Engineering, Sharif University of Technology, Tehran, 11365, Iran. .
Alinejad-Rokny H; BioMedical Machine Learning Lab (BML), The Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, NSW, 2052, Australia.; UNSW Data Science Hub, The University of New South Wales (UNSW Sydney), Sydney, NSW, 2052, Australia.; AI-Enabled Processes (AIP) Research Centre, Macquarie University, Sydney, 2109, Australia.
Dehzangi I; Department of Computer Science, Rutgers University, Camden, NJ, 08102, USA. .; Center for Computational and Integrative Biology, Rutgers University, Camden, NJ, 08102, USA. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2022 Jul 25; Vol. 23 (1), pp. 298. Date of Electronic Publication: 2022 Jul 25.
Typ publikacji:
Journal Article
MeSH Terms:
Neoplasms*/genetics
Point Mutation*
Cluster Analysis ; Genome, Human ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.
Autorzy:
Aljabry M; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia. .
Algazlan A; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Alsubaie N; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Dher SB; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Aljabri HS; Premarital Examination Center, Madina Region, Ministry of Health, Al-Madinah Al-Munawwarah, Saudi Arabia.
Alotaibi GS; Division of Hematology/Oncology, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Dec 07; Vol. 17 (1), pp. 504. Date of Electronic Publication: 2023 Dec 07.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Factor XII Deficiency*/complications
Factor XII Deficiency*/genetics
Pregnancy ; Humans ; Female ; Adult ; Factor XII/genetics ; Partial Thromboplastin Time ; Family
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular bases for strong phenotypic effects of single synonymous codon substitutions in the E. coli ccdB toxin gene.
Autorzy:
Bajaj P; Molecular Biophysics Unit, Indian Institute of Science, Bangalore, 560012, India.; Present address: Department of Bioengineering and Therapeutic Sciences, University of CA - San Francisco, San Francisco, CA, 94158, USA.
Bhasin M; Molecular Biophysics Unit, Indian Institute of Science, Bangalore, 560012, India.
Varadarajan R; Molecular Biophysics Unit, Indian Institute of Science, Bangalore, 560012, India. .
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Źródło:
BMC genomics [BMC Genomics] 2023 Dec 04; Vol. 24 (1), pp. 732. Date of Electronic Publication: 2023 Dec 04.
Typ publikacji:
Journal Article
MeSH Terms:
Escherichia coli*/genetics
Protein Biosynthesis*
Silent Mutation*
Escherichia coli Proteins*/genetics
Codon ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical feature-related single-base substitution sequence signatures identified with an unsupervised machine learning approach.
Autorzy:
Ji H; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China.; Faculty of Hepatopancreatobiliary Surgery, Chinese PLA General Hospital, No. 28 Fuxing Road, Beijing, China.
Li J; Department of Emergency, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, China.
Zhang Q; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China.
Yang J; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China.
Duan J; Department of Hepatoxbiliary Surgery, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, China.
Wang X; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China.
Ma B; Faculty of Hepatopancreatobiliary Surgery, Chinese PLA General Hospital, No. 28 Fuxing Road, Beijing, China.
Zhang Z; Faculty of Hepatopancreatobiliary Surgery, Chinese PLA General Hospital, No. 28 Fuxing Road, Beijing, China.
Pan W; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China.
Zhang H; Department of Oncology, Xijing Hospital, Fourth Military Medical University, No. 127 West Changle Road, Xi'an, 710032, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2021 Dec 20; Vol. 14 (1), pp. 298. Date of Electronic Publication: 2021 Dec 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Unsupervised Machine Learning*
Algorithms ; Cluster Analysis ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Network-based prediction approach for cancer-specific driver missense mutations using a graph neural network.
Autorzy:
Hatano N; Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kamada M; Graduate School of Medicine, Kyoto University, Kyoto, Japan. .
Kojima R; Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Okuno Y; Graduate School of Medicine, Kyoto University, Kyoto, Japan. .; HPC- and AI-driven Drug Development Platform Division, RIKEN Center for Computational Science(R-CCS), Kobe, Japan. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2023 Oct 10; Vol. 24 (1), pp. 383. Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Neoplasms*/genetics
Humans ; Neural Networks, Computer ; Machine Learning
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of novel CTNNB1 mutation in Craniopharyngioma by whole-genome sequencing.
Autorzy:
He J; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.
Zeng Z; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.; Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, 610064, China.
Wang Y; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Deng J; Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, 20040, China.
Tang X; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Liu F; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Huang J; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Chen H; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Liang R; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Zan X; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Liu Z; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Tong A; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.
Guo G; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China.
Xu J; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
Zhu X; Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, 610064, China. .
Zhou L; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China. liangxue_.
Peng Y; Laboratory of Molecular Oncology, Frontiers Science Center for Disease-related Molecular Network, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041, China. .
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Źródło:
Molecular cancer [Mol Cancer] 2021 Dec 18; Vol. 20 (1), pp. 168. Date of Electronic Publication: 2021 Dec 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Craniopharyngioma/*genetics
Pituitary Neoplasms/*genetics
beta Catenin/*genetics
Biomarkers, Tumor ; Computational Biology/methods ; Craniopharyngioma/diagnosis ; Humans ; INDEL Mutation ; Pituitary Neoplasms/diagnosis ; Polymorphism, Single Nucleotide ; Prognosis ; Tumor Cells, Cultured ; Whole Genome Sequencing ; Wnt Signaling Pathway
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Stepwise correlation of TP53 mutations from pancreaticobiliary maljunction to gallbladder carcinoma: a retrospective study.
Autorzy:
Kawakami S; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Takano S; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan. .
Fukasawa M; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Shindo H; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Takahashi E; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Fukasawa Y; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Hayakawa H; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Kuratomi N; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Kadokura M; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Hosomura N; First Department of Surgery, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Amemiya H; First Department of Surgery, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Kawaida H; First Department of Surgery, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Kono H; First Department of Surgery, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Maekawa S; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Ichikawa D; First Department of Surgery, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Enomoto N; First Department of Internal Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
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Źródło:
BMC cancer [BMC Cancer] 2021 Nov 19; Vol. 21 (1), pp. 1245. Date of Electronic Publication: 2021 Nov 19.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Gallbladder Neoplasms/*genetics
Genes, p53/*genetics
Pancreaticobiliary Maljunction/*genetics
Adult ; Aged ; Case-Control Studies ; Cholecystitis/genetics ; Female ; Gene Expression Profiling ; Genes, Retinoblastoma ; Genes, erbB-1 ; Genes, erbB-2 ; Genes, ras ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation Accumulation ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Endosomal traffic and glutamate synapse activity are increased in VPS35 D620N mutant knock-in mouse neurons, and resistant to LRRK2 kinase inhibition.
Autorzy:
Kadgien CA; Graduate Program in Neuroscience and Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada.
Kamesh A; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada.
Milnerwood AJ; Graduate Program in Neuroscience and Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada. .; Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada. .
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Źródło:
Molecular brain [Mol Brain] 2021 Sep 16; Vol. 14 (1), pp. 143. Date of Electronic Publication: 2021 Sep 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Point Mutation*
Endosomes/*physiology
Glutamic Acid/*physiology
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/*antagonists & inhibitors
Parkinson Disease/*genetics
Vesicular Transport Proteins/*genetics
Animals ; Cells, Cultured ; Dendrites/metabolism ; Gain of Function Mutation ; Gene Knock-In Techniques ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/physiology ; Mice ; Mice, Inbred C57BL ; Miniature Postsynaptic Potentials/physiology ; Nerve Tissue Proteins/metabolism ; Patch-Clamp Techniques ; Protein Binding ; Protein Interaction Mapping ; Receptors, AMPA/metabolism ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Synapses/metabolism ; Vesicular Transport Proteins/physiology ; rab GTP-Binding Proteins/metabolism
SCR Disease Name:
Parkinson Disease, Familial, Type 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 24859

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