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Tytuł :
Clinical application of liquid biopsy in cancer patients.
Autorzy :
Chang CM; Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan.; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Lin KC; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Hsiao NE; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Hong WA; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Lin CY; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Liu TC; Department of Hematology-Oncology, Chang Bing Show Chwan Memorial Hospital, 6 Lugong Road, Changhua, 505, Taiwan. .
Chang YS; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan. .; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan. .; Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan. .; School of Medicine, China Medical University, Taichung, Taiwan. .
Chang JG; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan. .; Center for Precision Medicine, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan. .; School of Medicine, China Medical University, Taichung, Taiwan. .; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan. .
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Źródło :
BMC cancer [BMC Cancer] 2022 Apr 15; Vol. 22 (1), pp. 413. Date of Electronic Publication: 2022 Apr 15.
Typ publikacji :
Journal Article
MeSH Terms :
Germ-Line Mutation*
Neoplasms*/genetics
Humans ; Liquid Biopsy ; Mutation ; Oncogenes
Czasopismo naukowe
Tytuł :
Improving the differentiation of closely related males by RMplex analysis of 30 Y-STRs with high mutation rates.
Autorzy :
Neuhuber F; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Dunkelmann B; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Grießner I; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Helm K; Department of Forensic Medicine and Forensic Neuropsychiatry, University of Salzburg, Salzburg, Austria.
Kayser M; Department of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Ralf A; Department of Genetic Identification, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address: .
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Źródło :
Forensic science international. Genetics [Forensic Sci Int Genet] 2022 May; Vol. 58, pp. 102682. Date of Electronic Publication: 2022 Feb 24.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Y*
Mutation Rate*
DNA Fingerprinting ; Fathers ; Genetics, Population ; Haplotypes ; Humans ; Male ; Microsatellite Repeats ; Mutation
Czasopismo naukowe
Tytuł :
A point mutation in human coilin prevents Cajal body formation.
Autorzy :
Basello DA; Institute of Molecular Genetics, Czech Academy of Science, Prague, Czech Republic.; Faculty of Science, Charles University, Prague 14220, Czech Republic.
Matera AG; Integrative Program for Biological and Genome Sciences, and Department of Biology, University of North Carolina, Chapel Hill, NC 27599-3280, USA.
Staněk D; Institute of Molecular Genetics, Czech Academy of Science, Prague, Czech Republic.
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Źródło :
Journal of cell science [J Cell Sci] 2022 Apr 15; Vol. 135 (8). Date of Electronic Publication: 2022 Apr 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Coiled Bodies*/genetics
Point Mutation*/genetics
Animals ; HeLa Cells ; Humans ; Mice ; Mutation/genetics ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism
Czasopismo naukowe
Tytuł :
The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Autorzy :
Gao X; School of Basic Medical Sciences, Southwest Medical University, Luzhou, China.
Li H; Department of endocrinology, Affiliated hospital of Southwest Medical University, Luzhou, China.
Zhao S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Li X; Department of Pathology, Affiliated hospital of Southwest Medical University, Luzhou, China.
Zhao J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Long Y; Experiment Medicine Center of the Affiliated Hospital of Southwest Medical University, Southwest Medical University, Luzhou, China.
Zhang J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Liao Y; Department of Dermatology, Affiliated hospital of Southwest Medical University, Luzhou, China.
Li S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Guo K; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Yi J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
Chen S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China. Electronic address: .
Ma M; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China. Electronic address: .
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Źródło :
Journal of dermatological science [J Dermatol Sci] 2022 Apr; Vol. 106 (1), pp. 37-44. Date of Electronic Publication: 2022 Mar 14.
Typ publikacji :
Journal Article
MeSH Terms :
Membrane Proteins*/genetics
Membrane Proteins*/metabolism
Mutation, Missense*
Arthrogryposis ; China ; Humans ; Mutation ; Pedigree ; Skin Diseases, Genetic
SCR Disease Name :
Multiple Pterygium Syndrome, Autosomal Dominant; Vohwinkel Syndrome, Variant Form
Czasopismo naukowe
Tytuł :
Predicting protein stability changes upon single-point mutation: a thorough comparison of the available tools on a new dataset.
Autorzy :
Pancotti C; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Benevenuta S; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Birolo G; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Alberini V; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Repetto V; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Sanavia T; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
Capriotti E; Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Bologna, Italy.
Fariselli P; Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy.
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Źródło :
Briefings in bioinformatics [Brief Bioinform] 2022 Mar 10; Vol. 23 (2).
Typ publikacji :
Journal Article
MeSH Terms :
Point Mutation*
Proteins*/chemistry
Mutation ; Protein Stability ; Thermodynamics
Czasopismo naukowe
Tytuł :
How Sequence Context-Dependent Mutability Drives Mutation Rate Variation in the Genome.
Autorzy :
Oman M; Department of Ecology and Evolutionary Biology, University of Toronto, Ontario, Canada.; Department of Biology, University of Toronto, Mississauga, Ontario, Canada.
Alam A; Department of Cell and Systems Biology, University of Toronto, Ontario, Canada.
Ness RW; Department of Ecology and Evolutionary Biology, University of Toronto, Ontario, Canada.; Department of Biology, University of Toronto, Mississauga, Ontario, Canada.; Department of Cell and Systems Biology, University of Toronto, Ontario, Canada.
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Źródło :
Genome biology and evolution [Genome Biol Evol] 2022 Mar 02; Vol. 14 (3).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome*
Mutation Rate*
DNA ; Evolution, Molecular ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach.
Autorzy :
S UK; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
R B; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
D TK; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
Doss CGP; School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
Zayed H; Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar.
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Źródło :
Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2022 Mar; Vol. 40 (4), pp. 1571-1585. Date of Electronic Publication: 2020 Oct 09.
Typ publikacji :
Journal Article
MeSH Terms :
Molecular Dynamics Simulation*
Mutation, Missense*
Guanosine Diphosphate/chemistry ; Guanosine Triphosphate/chemistry ; Mutation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/metabolism
Czasopismo naukowe
Tytuł :
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
MeSH Terms :
CRISPR-Cas Systems*/genetics
Point Mutation*
Catalysis ; Gene Editing/methods ; Mutagenesis ; Mutation
Czasopismo naukowe
Tytuł :
TransPPMP: predicting pathogenicity of frameshift and non-sense mutations by a Transformer based on protein features.
Autorzy :
Nie L; School of Computer Science and Technology, Soochow University, Suzhou 215006, China.
Quan L; School of Computer Science and Technology, Soochow University, Suzhou 215006, China.; Province Key Lab for Information Processing Technologies, Soochow University, Suzhou 215006, China.; Collaborative Innovation Center of Novel Software Technology and Industrialization, Nanjing 210000, China.
Wu T; School of Computer Science and Technology, Soochow University, Suzhou 215006, China.; Province Key Lab for Information Processing Technologies, Soochow University, Suzhou 215006, China.; Collaborative Innovation Center of Novel Software Technology and Industrialization, Nanjing 210000, China.
He R; School of Computer Science and Technology, Soochow University, Suzhou 215006, China.
Lyu Q; School of Computer Science and Technology, Soochow University, Suzhou 215006, China.; Province Key Lab for Information Processing Technologies, Soochow University, Suzhou 215006, China.; Collaborative Innovation Center of Novel Software Technology and Industrialization, Nanjing 210000, China.
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Źródło :
Bioinformatics (Oxford, England) [Bioinformatics] 2022 May 13; Vol. 38 (10), pp. 2705-2711.
Typ publikacji :
Journal Article
MeSH Terms :
Frameshift Mutation*
Software*
Humans ; Mutation ; Neural Networks, Computer
Czasopismo naukowe
Tytuł :
A natural mutator allele shapes mutation spectrum variation in mice.
Autorzy :
Sasani TA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Ashbrook DG; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Beichman AC; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Lu L; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Palmer AA; Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.; Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
Williams RW; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
Pritchard JK; Department of Genetics, Stanford University, Stanford, CA, USA.; Department of Biology, Stanford University, Stanford, CA, USA.
Harris K; Department of Genome Sciences, University of Washington, Seattle, WA, USA. .; Computational Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. .
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Źródło :
Nature [Nature] 2022 May; Vol. 605 (7910), pp. 497-502. Date of Electronic Publication: 2022 May 11.
Typ publikacji :
Journal Article
MeSH Terms :
Germ-Line Mutation*
Mammals*/genetics
Quantitative Trait Loci*/genetics
Alleles ; Animals ; Genetic Variation ; Haplotypes/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred DBA ; Mutation
Czasopismo naukowe
Tytuł :
Genetic and chemotherapeutic influences on germline hypermutation.
Autorzy :
Kaplanis J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Ide B; Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
Sanghvi R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Neville M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Danecek P; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Coorens T; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Prigmore E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Short P; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Gallone G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
McRae J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Carmichael J; East Anglian Medical Genetics Service, Cambridge University Hospitals, Cambridge, UK.
Barnicoat A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.
Firth H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals, Cambridge, UK.
O'Brien P; Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
Rahbari R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Hurles M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. .
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Corporate Authors :
Genomics England Research Consortium
Źródło :
Nature [Nature] 2022 May; Vol. 605 (7910), pp. 503-508. Date of Electronic Publication: 2022 May 11.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Diseases, Inborn*/genetics
Germ Cells*
Germ-Line Mutation*/genetics
Age Factors ; Humans ; Male ; Mutagenesis/genetics ; Mutation ; Parents ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Early embryonic mutations reveal dynamics of somatic and germ cell lineages in mice.
Autorzy :
Uchimura A; Department of Molecular Biosciences, Radiation Effects Research Foundation, Hiroshima, Hiroshima, 732-0815, Japan.; KOKORO-Biology Group, Laboratories for Integrated Biology, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Matsumoto H; School of Information and Data Sciences, Nagasaki University, Nagasaki, Nagasaki, 852-8521, Japan.; Laboratory for Bioinformatics Research, RIKEN Center for Biosystems and Dynamics Research, Wako, Saitama, 351-0198, Japan.
Satoh Y; Department of Molecular Biosciences, Radiation Effects Research Foundation, Hiroshima, Hiroshima, 732-0815, Japan.
Minakuchi Y; Comparative Genomics Laboratory, National Institute of Genetics, Mishima, Shizuoka, 411-8540, Japan.
Wakayama S; Advanced Biotechnology Centre, University of Yamanashi, Kofu, Yamanashi, 400-8510, Japan.
Wakayama T; Advanced Biotechnology Centre, University of Yamanashi, Kofu, Yamanashi, 400-8510, Japan.; Faculty of Life and Environmental Sciences, University of Yamanashi, Kofu, Yamanashi, 400-8510, Japan.
Higuchi M; KOKORO-Biology Group, Laboratories for Integrated Biology, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Hashimoto M; Laboratory for Embryogenesis, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Fukumura R; Department of Molecular Life Sciences, Tokai University School of Medicine, Isehara, Kanagawa, 259-1193, Japan.
Toyoda A; Comparative Genomics Laboratory, National Institute of Genetics, Mishima, Shizuoka, 411-8540, Japan.
Gondo Y; Department of Molecular Life Sciences, Tokai University School of Medicine, Isehara, Kanagawa, 259-1193, Japan.
Yagi T; KOKORO-Biology Group, Laboratories for Integrated Biology, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka, 565-0871, Japan.
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Źródło :
Genome research [Genome Res] 2022 May; Vol. 32 (5), pp. 945-955. Date of Electronic Publication: 2022 May 09.
Typ publikacji :
Journal Article
MeSH Terms :
Germ Cells*
Mutation Rate*
Animals ; Cell Lineage/genetics ; Mice ; Mutation ; Zygote
Czasopismo naukowe
Tytuł :
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Autorzy :
Nappi M; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Barrese V; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Carotenuto L; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Lesca G; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
Labalme A; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.
Ville D; Pediatric Neurology, Lyon University Hospital, Claude Bernard Lyon 1 University, 69677 Lyon, France.
Smol T; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
Rama M; Equipe d'Accueil 7364, Maladies Rares du Developpement Embryonnaire et du Metabolisme, Institut de Génétique Médicale, Centre Hospitalier Universitaire de Lille, Université de Lille, F-59000 Lille, France.
Dieux-Coeslier A; Clinique de Génétique-Guy Fontaine, Centre Hospitalier Universitaire de Lille, F-59000 Lille, France.
Rivier-Ringenbach C; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche-sur-Saône, 69400 France.
Soldovieri MV; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
Ambrosino P; Department of Science and Technology, University of Sannio, Benevento, 82100 Italy.
Mosca I; Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy.
Pusch M; Institute of Biophysics, Italian National Research Council, 16149 Genova, Italy.
Miceli F; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
Taglialatela M; Department of Neuroscience, University of Naples 'Federico II', 80131 Naples, Italy.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Apr 12; Vol. 119 (15), pp. e2116887119. Date of Electronic Publication: 2022 Apr 04.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Drug Resistant Epilepsy*/genetics
Gain of Function Mutation*
KCNQ Potassium Channels*/genetics
Adolescent ; Child ; Female ; Humans ; Male ; Mutation ; Phenotype ; Probability
Czasopismo naukowe
Tytuł :
A universal probe system for low-abundance point mutation detection based on endonuclease IV.
Autorzy :
Jiang P; Department of Gynecology, Renmin Hospital of Wuhan University, Wuhan, China. .
Dong K; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Zhang W; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Wang H; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Xiao X; Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Chen N; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. .
Cheng Y; Department of Gynecology, Renmin Hospital of Wuhan University, Wuhan, China. .
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Źródło :
The Analyst [Analyst] 2022 Apr 11; Vol. 147 (8), pp. 1534-1539. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji :
Journal Article
MeSH Terms :
Biosensing Techniques*/methods
Point Mutation*
DNA/genetics ; Deoxyribonuclease IV (Phage T4-Induced)/genetics ; Fluorescent Dyes ; Mutation
Czasopismo naukowe
Tytuł :
Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants.
Autorzy :
Ose NJ; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Butler BM; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Kumar A; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Kazan IC; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
Sanderford M; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America.; Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America.
Kumar S; Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America.; Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America.; Center for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Ozkan SB; Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America.
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Źródło :
PLoS computational biology [PLoS Comput Biol] 2022 Apr 07; Vol. 18 (4), pp. e1010006. Date of Electronic Publication: 2022 Apr 07 (Print Publication: 2022).
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*/genetics
Proteins*/chemistry
Catalytic Domain/genetics ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
2-Dimensional genetic algorithm exhibited an essentiality of gene interaction for evolution.
Autorzy :
Akashi M; Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba 277-8568, Japan; Department of Liberal Arts, Faculty of Science, Tokyo University of Science, Shinjuku, Tokyo 162-8601, Japan. Electronic address: .
Fujihara I; College of General Education, Osaka Sangyo University, Daito-shi, Osaka 574-8530, Japan. Electronic address: .
Takemura M; Laboratory of Biology, Institute of Arts and Sciences, Tokyo University of Science, Tokyo 162-8601, Japan.
Furusawa M; Chitose Laboratory Corp., Biotechnology Research Center, 2-13-3 Nogawa-honcho, Miyamae-ku, Kawasaki, Kanagawa 216-0041, Japan.
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Źródło :
Journal of theoretical biology [J Theor Biol] 2022 Apr 07; Vol. 538, pp. 111044. Date of Electronic Publication: 2022 Feb 02.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptation, Physiological*/genetics
Mutation Rate*
Algorithms ; Biological Evolution ; Evolution, Molecular ; Mutation ; Phylogeny ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Somatic mutation rates scale with lifespan across mammals.
Autorzy :
Cagan A; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK. .
Baez-Ortega A; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Brzozowska N; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Abascal F; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Coorens THH; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Sanders MA; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.; Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Lawson ARJ; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Harvey LMR; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Bhosle S; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Jones D; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Alcantara RE; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Butler TM; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Hooks Y; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Roberts K; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Anderson E; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Lunn S; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Flach E; Wildlife Health Services, Zoological Society of London, London, UK.
Spiro S; Wildlife Health Services, Zoological Society of London, London, UK.
Januszczak I; Wildlife Health Services, Zoological Society of London, London, UK.; The Natural History Museum, London, UK.
Wrigglesworth E; Wildlife Health Services, Zoological Society of London, London, UK.
Jenkins H; Wildlife Health Services, Zoological Society of London, London, UK.
Dallas T; Wildlife Health Services, Zoological Society of London, London, UK.
Masters N; Wildlife Health Services, Zoological Society of London, London, UK.
Perkins MW; Institute of Zoology, Zoological Society of London, London, UK.
Deaville R; Institute of Zoology, Zoological Society of London, London, UK.
Druce M; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Bogeska R; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Milsom MD; Division of Experimental Hematology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem Cell Technology and Experimental Medicine GmbH (HI-STEM), Heidelberg, Germany.
Neumann B; Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Gorman F; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Constantino-Casas F; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Peachey L; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.; Bristol Veterinary School, Faculty of Health Sciences, University of Bristol, Langford, UK.
Bochynska D; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.; Department of Pathology, Faculty of Veterinary Medicine, Universitatea de Stiinte Agricole si Medicina Veterinara, Cluj-Napoca, Romania.
Smith ESJ; Department of Pharmacology, University of Cambridge, Cambridge, UK.
Gerstung M; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.
Campbell PJ; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Murchison EP; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
Stratton MR; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.
Martincorena I; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK. .
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Źródło :
Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 517-524. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Longevity*/genetics
Mutation Rate*
Animals ; Humans ; Mammals/genetics ; Mutagenesis/genetics ; Mutation
Czasopismo naukowe
Tytuł :
Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
Autorzy :
Greve JN; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany.
Schwäbe FV; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany.
Pokrant T; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany.
Faix J; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany.
Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden 01307, Germany.
Taft MH; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany.
Manstein DJ; Institute for Biophysical Chemistry and Structural Biochemistry, Medizinische Hochschule Hannover, Hannover 30625, Germany; Division for Structural Biochemistry, Hannover Medical School, Carl Neuberg Str. 1, D-30625 Hannover, Germany; RESiST, Cluster of Excellence 2155, Medizinische Hochschule Hannover, 30625 Hannover, Germany. Electronic address: .
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Źródło :
European journal of cell biology [Eur J Cell Biol] 2022 Apr; Vol. 101 (2), pp. 151216. Date of Electronic Publication: 2022 Mar 15.
Typ publikacji :
Journal Article
MeSH Terms :
Actins*/genetics
Frameshift Mutation*
Syndrome*
Thrombocytopenia*/genetics
Actin Depolymerizing Factors/genetics ; Craniofacial Abnormalities ; Epilepsy ; Facies ; Humans ; Intellectual Disability ; Lissencephaly ; Mutation ; Myosins/genetics ; Profilins/genetics
SCR Disease Name :
Fryns-Aftimos Syndrome
Czasopismo naukowe
Tytuł :
A frameshift deletion in the GDF9 gene in Icelandic Loa prolific sheep.
Autorzy :
Holm LE; Department of Molecular Biology and Genetics, Aarhus University, Aarhus C, Denmark.
Bendixen C; Department of Molecular Biology and Genetics, Aarhus University, Aarhus C, Denmark.
Eythorsdottir E; Faculty of Agricultural Sciences, Agricultural University of Iceland, Keldnaholt, Reykjavik, Iceland.
Hallsson JH; Faculty of Agricultural Sciences, Agricultural University of Iceland, Keldnaholt, Reykjavik, Iceland.
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Źródło :
Animal genetics [Anim Genet] 2022 Apr; Vol. 53 (2), pp. 220-223. Date of Electronic Publication: 2021 Dec 29.
Typ publikacji :
Journal Article
MeSH Terms :
Frameshift Mutation*
Growth Differentiation Factor 9*/genetics
Animals ; Female ; Iceland ; Litter Size/genetics ; Mutation ; Phenotype ; Pregnancy ; Sheep/genetics
Czasopismo naukowe

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