Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""MUTATION"" wg kryterium: Temat


Starter badań:

Tytuł :
Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage.
Autorzy :
Xia B; Institute for Computational Medicine, NYU Langone Health, New York, NY, 10016, USA.
Yanai I; Institute for Computational Medicine, NYU Langone Health, New York, NY, 10016, USA. .; Department of Biochemistry and Molecular Pharmacology, NYU Langone Health, New York, NY, 10016, USA. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2022 Jun; Vol. 141 (6), pp. 1211-1222. Date of Electronic Publication: 2021 Sep 05.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation Rate*
Transcription, Genetic*
Animals ; DNA Repair/genetics ; Germ-Line Mutation ; Humans ; Male ; Mammals/genetics ; Mutation ; Receptors, Antigen, T-Cell/genetics ; Saccharomyces cerevisiae/genetics
Czasopismo naukowe
Tytuł :
Hereditary Cancer Gene Variants in Hispanic Men With a Personal or Family History of Prostate Cancer.
Autorzy :
Ramamurthy C; Department of Medical Oncology, University of Texas Health San Antonio, San Antonio, TX. Electronic address: michael_.
Stutz EW; Department of Epidemiology and Biostatistics, University of Texas Health San Antonio, San Antonio, TX.
Goros M; Department of Epidemiology and Biostatistics, University of Texas Health San Antonio, San Antonio, TX.
Gelfond J; Department of Epidemiology and Biostatistics, University of Texas Health San Antonio, San Antonio, TX.
Johnson-Pais TL; Department of Urology, University of Texas Health San Antonio, San Antonio, TX.
Thompson IM Jr; CHRISTUS Santa Rosa Hospital Medical Center, San Antonio, TX.
Leach RJ; Department of Cell System and Anatomy, University of Texas Health San Antonio, San Antonio, TX; Department of Urology, University of Texas Health San Antonio, San Antonio, TX.
Liss MA; Department of Urology, University of Texas Health San Antonio, San Antonio, TX.
Pokaż więcej
Źródło :
Clinical genitourinary cancer [Clin Genitourin Cancer] 2022 Jun; Vol. 20 (3), pp. 237-243. Date of Electronic Publication: 2022 Jan 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Prostatic Neoplasms*/pathology
Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
Autorzy :
Deng M; Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical Univeristy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China.
Li Y; Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical Univeristy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China.
Li Y; Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical Univeristy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China.
Mao X; Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical Univeristy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China.
Ke H; Beijing National Laboratory for Molecular Sciences, Key Laboratory of Bioorganic Chemistry and Molecular Engineering of Ministry of Education, Department of Chemical Biology, College of Chemistry and Molecular Engineering, Synthetic and Functional Biomolecules Center, and Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China.
Liang W; Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Lei X; Beijing National Laboratory for Molecular Sciences, Key Laboratory of Bioorganic Chemistry and Molecular Engineering of Ministry of Education, Department of Chemical Biology, College of Chemistry and Molecular Engineering, Synthetic and Functional Biomolecules Center, and Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China.
Lau YL; Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Mao H; Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical Univeristy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China.
Pokaż więcej
Źródło :
Frontiers in immunology [Front Immunol] 2022 May 23; Vol. 13, pp. 866638. Date of Electronic Publication: 2022 May 23 (Print Publication: 2022).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gain of Function Mutation*
Lung Diseases, Interstitial*/diagnosis
Lung Diseases, Interstitial*/genetics
STAT3 Transcription Factor*/genetics
Autoimmunity ; Humans ; Infant ; Mutation
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: .
Pokaż więcej
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 :
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.
Pokaż więcej
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
MeSH Terms :
Ion Channel Gating*
Mutation, Missense*
Receptors, Purinergic P2X2*/genetics
Adenosine Triphosphate/metabolism ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
A gain-of-function mutation in the acid-sensing ion channel 2a induces marked cerebellar maldevelopment in rats.
Autorzy :
Shibata Y; Department of Anatomy and Neuroscience, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, 467-8601, Japan.
Kumamoto N; Department of Anatomy and Neuroscience, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, 467-8601, Japan.
Sakuma E; Department of Integrative Anatomy, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, 467-8601, Japan.
Ishida Y; Division of Histology and Anatomy, Department of Medicine, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, 4-4-1 Komatsushima, Aoba-ku, Sendai, Miyagi, 981-8558, Japan.
Ueda T; Department of Anatomy and Neuroscience, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, 467-8601, Japan.
Shimada S; Department of Neuroscience and Cell Biology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan; Addiction Research Unit, Osaka Psychiatric Research Center, Osaka Psychiatric Medical Center, Osaka, 541-8567, Japan.
Ugawa S; Department of Anatomy and Neuroscience, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi, 467-8601, Japan. Electronic address: .
Pokaż więcej
Źródło :
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2022 Jun 25; Vol. 610, pp. 77-84. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji :
Journal Article
MeSH Terms :
Acid Sensing Ion Channels*/genetics
Acid Sensing Ion Channels*/metabolism
Cerebellum*/pathology
Gain of Function Mutation*
Animals ; Mutation ; Rats
Czasopismo naukowe
Tytuł :
Synonymous mutations in representative yeast genes are mostly strongly non-neutral.
Autorzy :
Shen X; Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, MI, USA.
Song S; Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, MI, USA.
Li C; Department of Biology, Stanford University, Stanford, CA, USA.; Microsoft, Redmond, WA, USA.
Zhang J; Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, MI, USA. .
Pokaż więcej
Źródło :
Nature [Nature] 2022 Jun; Vol. 606 (7915), pp. 725-731. Date of Electronic Publication: 2022 Jun 08.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Fungal*/genetics
Genetic Fitness*/genetics
Saccharomyces cerevisiae*/genetics
Silent Mutation*/genetics
Amino Acid Sequence ; Codon, Nonsense/genetics ; Evolution, Molecular ; Mutation Rate ; RNA, Fungal/analysis ; RNA, Fungal/biosynthesis ; RNA, Messenger/analysis ; RNA, Messenger/biosynthesis ; Saccharomyces cerevisiae Proteins/chemistry ; Saccharomyces cerevisiae Proteins/genetics ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Autorzy :
Hoyos D; Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Zappasodi R; Swim Across America Laboratory and Ludwig Collaborative, Immunology Program, Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Department of Medicine, Weill Cornell Medical College, New York, NY, USA. .; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Immunology and Microbial Pathogenesis Program, Weill Cornell Graduate School of Medical Sciences, New York, NY, USA. .
Schulze I; Swim Across America Laboratory and Ludwig Collaborative, Immunology Program, Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Sethna Z; Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Hepatopancreatobiliary Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
de Andrade KC; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Bajorin DF; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Bandlamudi C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Callahan MK; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Funt SA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hadrup SR; Experimental and Translational Immunology, Health Technology, Technical University of Denmark, Lyngby, Denmark.
Holm JS; Experimental and Translational Immunology, Health Technology, Technical University of Denmark, Lyngby, Denmark.
Rosenberg JE; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Shah SP; Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Physiology, Biophysics & Systems Biology, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA.
Vázquez-García I; Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Weigelt B; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Wu M; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Zamarin D; Swim Across America Laboratory and Ludwig Collaborative, Immunology Program, Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Campitelli LF; Adaptive Biotechnologies, Seattle, WA, USA.
Osborne EJ; Adaptive Biotechnologies, Seattle, WA, USA.
Klinger M; Adaptive Biotechnologies, Seattle, WA, USA.
Robins HS; Adaptive Biotechnologies, Seattle, WA, USA.
Khincha PP; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Savage SA; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
Balachandran VP; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Hepatopancreatobiliary Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; David M. Rubenstein Center for Pancreatic Cancer Research, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Wolchok JD; Swim Across America Laboratory and Ludwig Collaborative, Immunology Program, Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hellmann MD; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Merghoub T; Swim Across America Laboratory and Ludwig Collaborative, Immunology Program, Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Department of Medicine, Weill Cornell Medical College, New York, NY, USA. .; Parker Institute for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .
Levine AJ; Simons Center for Systems Biology, Institute for Advanced Study, Princeton, NJ, USA.
Łuksza M; Department of Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Greenbaum BD; Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Physiology, Biophysics & Systems Biology, Weill Cornell Medicine, Weill Cornell Medical College, New York, NY, USA. .
Pokaż więcej
Źródło :
Nature [Nature] 2022 Jun; Vol. 606 (7912), pp. 172-179. Date of Electronic Publication: 2022 May 11.
Typ publikacji :
Journal Article
MeSH Terms :
Carcinogenesis*/genetics
Carcinogenesis*/immunology
Evolution, Molecular*
Lung Neoplasms*/genetics
Lung Neoplasms*/therapy
Mutation*/genetics
Datasets as Topic ; Genes, p53 ; Genetic Fitness ; Genomics ; Healthy Volunteers ; Humans ; Immunotherapy ; Mutation, Missense ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation.
Autorzy :
Zhang F; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Wang Z; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Meng Q; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Song J; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Yang S; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Tang X; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Zhao Y; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Men S; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China.
Wang L; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, 222000, People's Republic of China. Electronic address: .
Pokaż więcej
Źródło :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jun 01; Vol. 531, pp. 84-90. Date of Electronic Publication: 2022 Mar 24.
Typ publikacji :
Journal Article
MeSH Terms :
Mosaicism*
Mutation, Missense*
Female ; Humans ; Mutation ; Phenotype ; Pregnancy ; Proto-Oncogene Proteins c-ret/genetics ; Whole Exome Sequencing
Czasopismo naukowe
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.
Pokaż więcej
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
Tytuł :
Predicting functional consequences of mutations using molecular interaction network features.
Autorzy :
Ozturk K; Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, CA, USA.; Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA, USA.
Carter H; Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, CA, USA. .; Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA, USA. .; Moores Cancer Center, University of California San Diego, La Jolla, CA, USA. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2022 Jun; Vol. 141 (6), pp. 1195-1210. Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Protein Interaction Maps*/genetics
Amino Acid Sequence ; Computational Biology/methods ; Humans ; Mutation ; Proteins/genetics
Czasopismo naukowe
Tytuł :
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Autorzy :
Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
Sheffer R; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
Daana M; Child Development Institute, Clalit Health Services, Tel Aviv, Israel.
Li Y; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
Kaygusuz E; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.; Molecular Biology and Genetics, Bilecik Şeyh Edebali University, Bilecik, Turkey.
Mor-Shakad H; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Douiev L; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
Kaulfuss S; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
Burfeind P; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany .; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Gottingen, Gottingen, Germany.
Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Gottingen, Germany .
Pokaż więcej
Źródło :
Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 549-553. Date of Electronic Publication: 2021 Jun 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Diseases*/genetics
Mutation, Missense*/genetics
Child, Preschool ; Heterozygote ; Humans ; Mutation ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Causes of variability in estimates of mutational variance from mutation accumulation experiments.
Autorzy :
Conradsen C; School of Biological Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia.
Blows MW; School of Biological Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia.
McGuigan K; School of Biological Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia.
Pokaż więcej
Źródło :
Genetics [Genetics] 2022 May 31; Vol. 221 (2).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Mutation Accumulation*
Animals ; Drosophila/genetics ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Autorzy :
Kölbel H; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062 Aachen, Germany.
Hentschel A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Czech A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Gangfuss A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Dr., Bethesda, MD 20892, USA.
Nguyen C; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
Schara-Schmidt U; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Preuße C; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Department of Neurology with Institute for Translational Neurology, University Hospital Münster, 48149 Münster, Germany.
Roos A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Pokaż więcej
Źródło :
Genes [Genes (Basel)] 2022 May 17; Vol. 13 (5). Date of Electronic Publication: 2022 May 17.
Typ publikacji :
Journal Article
MeSH Terms :
Amyotrophic Lateral Sclerosis*/genetics
Gain of Function Mutation*
Serine C-Palmitoyltransferase*/chemistry
Serine C-Palmitoyltransferase*/genetics
Humans ; Mutation ; Proteomics
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. .
Pokaż więcej
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.
Pokaż więcej
Źródło :
Bioinformatics (Oxford, England) [Bioinformatics] 2022 May 13; Vol. 38 (10), pp. 2705-2711.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
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. .
Pokaż więcej
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. .
Pokaż więcej
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.
Pokaż więcej
Źródło :
Genome research [Genome Res] 2022 May; Vol. 32 (5), pp. 945-955. Date of Electronic Publication: 2022 May 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ Cells*
Mutation Rate*
Animals ; Cell Lineage/genetics ; Mice ; Mutation ; Zygote
Czasopismo naukowe
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. .
Pokaż więcej
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

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies