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Tytuł:
Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs.
Autorzy:
Wang F; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Song F; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Wang X; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Song M; Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.; Med+Molecular Diagnostics Institute of West China Hospital/West China School of Medicine, Chengdu, 610041, Sichuan Province, People's Republic of China.
Zhou Y; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Liu J; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Wang Z; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Hou Y; Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China. .
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Źródło:
Scientific reports [Sci Rep] 2022 Sep 20; Vol. 12 (1), pp. 15680. Date of Electronic Publication: 2022 Sep 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Y*/genetics
Mutation Rate*
China ; Fathers ; Humans ; Male ; Microsatellite Repeats/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Selection in a growing colony biases results of mutation accumulation experiments.
Autorzy:
Mahilkar A; Department of Chemical Engineering, Indian Institute of Technology Bombay, Powai, Mumbai, 400076, India.
Raj N; Department of Chemical Engineering, Indian Institute of Technology Bombay, Powai, Mumbai, 400076, India.
Kemkar S; Department of Chemical Engineering, Indian Institute of Technology Bombay, Powai, Mumbai, 400076, India.
Saini S; Department of Chemical Engineering, Indian Institute of Technology Bombay, Powai, Mumbai, 400076, India. .
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Źródło:
Scientific reports [Sci Rep] 2022 Sep 14; Vol. 12 (1), pp. 15470. Date of Electronic Publication: 2022 Sep 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Fitness*
Mutation Accumulation*
Bias ; Escherichia coli/genetics ; Mutation Rate
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:
Shadow coat colour in American mink associated with a missense mutation in the KIT gene.
Autorzy:
Manakhov AD; Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
Mintseva MY; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Andreeva TV; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
Trapezov OV; Department of Animals and Human Genetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Novosibirsk State University, Novosibirsk, Russia.
Rogaev EI; Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.; Department of Psychiatry, UMass Chan Medical School, Worcester, Massachusetts, USA.
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Źródło:
Animal genetics [Anim Genet] 2022 Aug; Vol. 53 (4), pp. 522-525. Date of Electronic Publication: 2022 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mink*/genetics
Mutation, Missense*
Animals ; Color ; Hair Color/genetics ; Mutation ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A de novo missense mutation in KIT is responsible for dominant white spotting phenotype in a Standardbred horse.
Autorzy:
Esdaile E; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Till B; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Kallenberg A; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Fremeux M; InfogeneNZ, Institute of Veterinary, Animal and Biomedical Sciences, Massey University, Palmerston North, New Zealand.
Bickel L; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Bellone RR; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
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Źródło:
Animal genetics [Anim Genet] 2022 Aug; Vol. 53 (4), pp. 534-537. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Journal Article
MeSH Terms:
Hair Color*
Mutation, Missense*
Animals ; Horses/genetics ; Mutation ; Phenotype ; Proto-Oncogene Proteins c-kit/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular Mechanisms and the Significance of Synonymous Mutations.
Autorzy:
Oelschlaeger P; Department of Biotechnology and Pharmaceutical Sciences, College of Pharmacy, Western University of Health Sciences, Pomona, CA 91766, USA.
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Źródło:
Biomolecules [Biomolecules] 2024 Jan 20; Vol. 14 (1). Date of Electronic Publication: 2024 Jan 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Silent Mutation*
Protein Biosynthesis*/genetics
Codon/genetics ; RNA, Messenger/genetics ; Proteins/genetics ; Amino Acids/genetics ; Evolution, Molecular
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.
Autorzy:
Sen N; Institute of Structural and Molecular Biology, University College London, London, WC1E 6BT, UK.
Anishchenko I; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.; Institute for Protein Design, University of Washington, Seattle, WA 98195, USA.
Bordin N; Institute of Structural and Molecular Biology, University College London, London, WC1E 6BT, UK.
Sillitoe I; Institute of Structural and Molecular Biology, University College London, London, WC1E 6BT, UK.
Velankar S; Protein Data Bank in Europe, European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Baker D; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.; Institute for Protein Design, University of Washington, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Orengo C; Institute of Structural and Molecular Biology, University College London, London, WC1E 6BT, UK.
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Źródło:
Briefings in bioinformatics [Brief Bioinform] 2022 Jul 18; Vol. 23 (4).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Mutation, Missense*
Proteins*/chemistry
Proteins*/genetics
Databases, Protein ; Humans ; Models, Molecular ; Mutation
Czasopismo naukowe
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:
Sexual selection for males with beneficial mutations.
Autorzy:
Roberts G; Independent Researcher, Newcastle upon Tyne, UK. .
Petrie M; Biosciences Institute, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK.
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Źródło:
Scientific reports [Sci Rep] 2022 Jul 23; Vol. 12 (1), pp. 12613. Date of Electronic Publication: 2022 Jul 23.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
Sexual Selection*
Animals ; Female ; Male ; Mutation ; Reproduction ; Selection, Genetic ; Sexual Behavior, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.
Autorzy:
Gasparri F; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Sarkar D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Bielickaite S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Poulsen MH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Hauser AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Pless SA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
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Źródło:
British journal of pharmacology [Br J Pharmacol] 2022 Jul; Vol. 179 (14), pp. 3859-3874. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Ion Channel Gating*
Mutation, Missense*
Receptors, Purinergic P2X2*/genetics
Adenosine Triphosphate/metabolism ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional characterization of cAMP signaling of variant porcine MC1R alleles in PK15 cells.
Autorzy:
Lan J; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Wang M; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Qin K; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Liu X; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Shi X; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Sun G; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Liu X; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
Chen Y; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
He Z; State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, 510006, China.
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Źródło:
Animal genetics [Anim Genet] 2022 Jun; Vol. 53 (3), pp. 317-326. Date of Electronic Publication: 2022 Mar 15.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Receptor, Melanocortin, Type 1*/genetics
Alleles ; Animals ; Hair Color ; Mutation ; Phenotype ; Swine/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Homology directed correction, a new pathway model for point mutation repair catalyzed by CRISPR-Cas.
Autorzy:
Sansbury BM; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA.
Hewes AM; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA.
Tharp OM; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA.; Department of Medical and Molecular Sciences, University of Delaware, Newark, DE, USA.
Masciarelli SB; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA.; Department of Medical and Molecular Sciences, University of Delaware, Newark, DE, USA.
Kaouser S; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA.
Kmiec EB; Gene Editing Institute, ChristianaCare Health System, 550 S College Ave, Suite 100A, 2nd Floor, Newark, DE, 19713, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 May 17; Vol. 12 (1), pp. 8132. Date of Electronic Publication: 2022 May 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
CRISPR-Cas Systems*/genetics
Point Mutation*
Catalysis ; Gene Editing/methods ; Mutagenesis ; 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:
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Autorzy:
Maksiutenko EM; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Barbitoff YA; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Nasykhova YA; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Pachuliia OV; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Lazareva TE; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Bespalova ON; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
Glotov AS; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, Mendeleevskaya Line 3, 199034 St. Petersburg, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 17; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 17.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Point Mutation*
Abortion, Habitual*/genetics
Pregnancy ; Female ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
Autorzy:
Sunar V; Department of Medical Oncology, Zekai Tahir Burak Women's Health Research and Education Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
Korkmaz V; Department of Gynecologic Oncology, Zekai Tahir Burak Women's Health Research and Education Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Research and Education Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
Cavdarli B; Department of Medical Genetics, Ankara Numune Training and Research Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
Arik Z; Department of Medical Oncology, Hacettepe University Cancer Institute, Ankara, Turkey.
Ozdal B; Department of Gynecologic Oncology, Zekai Tahir Burak Women's Health Research and Education Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
Ustun YE; Department of Gynecology and Obstetrics, Zekai Tahir Burak Women's Health Research and Education Hospital, Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
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Źródło:
Asia-Pacific journal of clinical oncology [Asia Pac J Clin Oncol] 2022 Feb; Vol. 18 (1), pp. 84-92. Date of Electronic Publication: 2021 Feb 25.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Carcinoma, Ovarian Epithelial*/genetics
Germ-Line Mutation*
Ovarian Neoplasms*/genetics
Breast Neoplasms ; Cross-Sectional Studies ; Female ; Genetic Predisposition to Disease ; Germ Cells ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Wisconsin bill would restrict pathogen studies.
Autorzy:
Kaiser J
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Źródło:
Science (New York, N.Y.) [Science] 2024 Jan 19; Vol. 383 (6680), pp. 250. Date of Electronic Publication: 2024 Jan 18.
Typ publikacji:
Wiadomości
MeSH Terms:
Gain of Function Mutation*
Biomedical Research*/economics
Biomedical Research*/legislation & jurisprudence
Wisconsin ; Bacteria/genetics ; Bacteria/pathogenicity ; Viruses/genetics ; Viruses/pathogenicity ; Fungi/genetics ; Fungi/pathogenicity
Periodyk
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Tytuł:
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Autorzy:
Alonso-Luna O; Programa de Maestria y Doctorado en Ciencias Medicas, Odontologicas y de la Salud, Ciudad Universitaria, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.
Mercado-Celis GE; Laboratorio de Genomica Clinica, DEPeI-FO, Universidad Nacional Autonoma de México, Mexico City, Mexico.
Melendez-Zajgla J; Laboratorio de Genomica Funcional del Cancer, Instituto Nacional de Medicina Genomica, Mexico City, Mexico.
Barquera R; Department of Archaeogenetics, Max Plank Institute for Evolutionary Anthropology (MPI-EVA), Leipzig, Germany.
Zapata-Tarres M; Coordinación de Investigacion, Fundacion IMSS, A.C., Mexico City, Mexico.
Juárez-Villegas LE; Oncologia Pediatrica, Hospital Infantil de Mexico 'Federico Gomez', Mexico City, Mexico.
Mendoza-Caamal EC; Area Clinica, Instituto Nacional de Medicina Genomica, Mexico City, Mexico.
Rey-Helo E; Hospital Infantil de Especialidades de Chihuahua, Chihuahua, Mexico.
Borges-Yañez SA; Subjefatura de investigación, DEPeI-FO, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2332. Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Journal Article
MeSH Terms:
Germ-Line Mutation*
Neoplasms*/genetics
North American People*
Adult ; Humans ; Child ; Child, Preschool ; Adolescent ; Genetic Predisposition to Disease ; Exome Sequencing ; Ribonuclease III ; DEAD-box RNA Helicases
Czasopismo naukowe
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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
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