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Tytuł :
Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung.
Autorzy :
Li Y; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine.; Departments of Molecular Diagnostics.
Xi SY; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine.; Pathology, Sun Yat-Sen University Cancer Center.
Yong JJ; Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Wu XY; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine.; Departments of Molecular Diagnostics.
Yang XH; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine.; Departments of Molecular Diagnostics.
Wang F; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine.; Departments of Molecular Diagnostics.
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Źródło :
The American journal of surgical pathology [Am J Surg Pathol] 2021 Nov 01; Vol. 45 (11), pp. 1464-1475.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biomarkers, Tumor*/analysis
Biomarkers, Tumor*/genetics
DNA Mutational Analysis*
Immunohistochemistry*
Mutation*
Adenocarcinoma of Lung/*diagnosis
Lung Neoplasms/*diagnosis
Adenocarcinoma of Lung/chemistry ; Adenocarcinoma of Lung/genetics ; Adenocarcinoma of Lung/pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; DEAD-box RNA Helicases/analysis ; DEAD-box RNA Helicases/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Lung Neoplasms/chemistry ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology ; Male ; Middle Aged ; N-Myc Proto-Oncogene Protein/analysis ; N-Myc Proto-Oncogene Protein/genetics ; Neoplasm Grading ; Predictive Value of Tests ; Retrospective Studies ; Ribonuclease III/analysis ; Ribonuclease III/genetics ; Young Adult ; beta Catenin/analysis ; beta Catenin/genetics
Czasopismo naukowe
Tytuł :
Performance Characteristics of Mutational Signature Analysis in Targeted Panel Sequencing.
Autorzy :
Lawrence L; From the Department of Pathology, Stanford University School of Medicine, Stanford, California.
Kunder CA; From the Department of Pathology, Stanford University School of Medicine, Stanford, California.
Fung E; From the Department of Pathology, Stanford University School of Medicine, Stanford, California.
Stehr H; From the Department of Pathology, Stanford University School of Medicine, Stanford, California.
Zehnder J; From the Department of Pathology, Stanford University School of Medicine, Stanford, California.
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Źródło :
Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2021 Nov 01; Vol. 145 (11), pp. 1424-1431.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Mutational Analysis*
Gene Expression Profiling*
High-Throughput Nucleotide Sequencing*
Mutation*
Biomarkers, Tumor/*genetics
Lung Neoplasms/*genetics
Neoplasms, Radiation-Induced/*genetics
Skin Neoplasms/*genetics
Case-Control Studies ; DNA Polymerase II/genetics ; Humans ; Poly-ADP-Ribose Binding Proteins/genetics ; Predictive Value of Tests ; Risk Assessment ; Risk Factors ; Tobacco Smoking/adverse effects ; Tobacco Smoking/genetics ; Ultraviolet Rays/adverse effects
Czasopismo naukowe
Tytuł :
Resistance profiles of anaplastic lymphoma kinase tyrosine kinase inhibitors in advanced non-small-cell lung cancer: a multicenter study using targeted next-generation sequencing.
Autorzy :
Lin YT; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medicine, National Taiwan University Cancer Center, Taipei, Taiwan.
Chiang CL; Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Hung JY; Department of Internal Medicine, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Department of Internal Medicine, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, Taiwan.
Lee MH; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Su WC; Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Wu SY; Department of Oncology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Wei YF; School of Medicine for International Students, College of Medicine, I-Shou University, Kaohsiung, Taiwan; Division of Chest Medicine, Department of Internal Medicine, E-Da Hospital, Kaohsiung, Taiwan.
Lee KY; Division of Pulmonary Medicine, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan; Division of Pulmonary Medicine, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
Tseng YH; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Division of Pulmonary Medicine, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.
Su J; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan.
Chung HP; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan.
Lin CB; Chest Section, Department of Internal Medicine, Hualien Tzuchi Hospital, Buddhist Tzuchi Medical Foundation, Taiwan.
Ku WH; Department of Molecular Medicine, Taipei Institute of Pathology, Taipei, Taiwan.
Chiang TS; Department of Molecular Medicine, Taipei Institute of Pathology, Taipei, Taiwan.
Chiu CH; Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. Electronic address: .
Shih JY; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: .
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Źródło :
European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2021 Oct; Vol. 156, pp. 1-11. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
DNA Mutational Analysis*
High-Throughput Nucleotide Sequencing*
Anaplastic Lymphoma Kinase/*antagonists & inhibitors
Antineoplastic Agents/*therapeutic use
Carcinoma, Non-Small-Cell Lung/*drug therapy
Drug Resistance, Neoplasm/*genetics
Lung Neoplasms/*drug therapy
Protein Kinase Inhibitors/*therapeutic use
Adult ; Aged ; Aged, 80 and over ; Aminopyridines/therapeutic use ; Anaplastic Lymphoma Kinase/genetics ; Anaplastic Lymphoma Kinase/metabolism ; Antineoplastic Agents/adverse effects ; Carbazoles/therapeutic use ; Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/metabolism ; Carcinoma, Non-Small-Cell Lung/pathology ; Circulating Tumor DNA/genetics ; Crizotinib/therapeutic use ; Female ; Humans ; Lactams/therapeutic use ; Lung Neoplasms/enzymology ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology ; Male ; Middle Aged ; Molecular Targeted Therapy ; Mutation ; Piperidines/therapeutic use ; Predictive Value of Tests ; Prospective Studies ; Protein Kinase Inhibitors/adverse effects ; Pyrazoles/therapeutic use ; Pyrimidines/therapeutic use ; Risk Factors ; Sulfones/therapeutic use ; Taiwan ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Mutational analysis to explore long-range allosteric couplings involved in a pentameric channel receptor pre-activation and activation.
Autorzy :
Lefebvre SN; Institut Pasteur, Université de Paris, CNRS UMR 3571,Channel-Receptors Unit, Paris, France.; Sorbonne Université, Collège doctoral, Paris, France.
Taly A; Institut de Biologie Physico-chimique, Fondation Edmond de Rothschild, PSL Research University, Paris, France.; Laboratoire de Biochimie Théorique, CNRS, Université de Paris, UPR 9080, Paris, France.
Menny A; Institut Pasteur, Université de Paris, CNRS UMR 3571,Channel-Receptors Unit, Paris, France.; Sorbonne Université, Collège doctoral, Paris, France.
Medjebeur K; Institut Pasteur, Université de Paris, CNRS UMR 3571,Channel-Receptors Unit, Paris, France.
Corringer PJ; Institut Pasteur, Université de Paris, CNRS UMR 3571,Channel-Receptors Unit, Paris, France.
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Źródło :
ELife [Elife] 2021 Sep 30; Vol. 10. Date of Electronic Publication: 2021 Sep 30.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Ion Channel Gating*
Mutation*
Bacterial Proteins/*metabolism
Cyanobacteria/*metabolism
Ligand-Gated Ion Channels/*metabolism
Bacterial Proteins/chemistry ; Bacterial Proteins/genetics ; Cyanobacteria/genetics ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Ligand-Gated Ion Channels/chemistry ; Ligand-Gated Ion Channels/genetics ; Models, Biological ; Molecular Docking Simulation ; Protein Conformation ; Structure-Activity Relationship ; Time Factors
SCR Organism :
Gloeobacter violaceus
Czasopismo naukowe
Tytuł :
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Autorzy :
Bernal S; Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain.; CIBERER. U-705, 18014 Barcelona, Spain.
Pelaez I; Department of Pediatric and Oncohematology, University Hospital Virgen de las Nieves, 18014 Granada, Spain.
Alias L; Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain.; CIBERER. U-705, 18014 Barcelona, Spain.
Baena M; Department of Genetics, Santa Creu i Sant Pau Hospital and IIB Sant Pau, 08041 Barcelona, Spain.
De Pablo-Moreno JA; Department of Genetic, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain.
Serrano LJ; Department of Genetic, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain.
Camero MD; Association for the Investigation and Cure of Factor V Deficiency, 23002 Jaén, Spain.
Tizzano EF; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Vall d'Hebron Research Institute, 08035 Barcelona, Spain.
Berrueco R; Pediatric Hematology Department, Hospital Sant Joan de Déu, University of Barcelona and Research Institute Hospital Sant Joan de Déu, 08950 Barcelona, Spain.
Liras A; Department of Genetic, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 08; Vol. 22 (18). Date of Electronic Publication: 2021 Sep 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
DNA Mutational Analysis*
Factor V/*genetics
Factor V Deficiency/*genetics
Factor V Deficiency/*therapy
Adolescent ; Blood Coagulation ; Blood Coagulation Disorders, Inherited/genetics ; Blood Coagulation Tests ; Blood Platelets/metabolism ; Child, Preschool ; Codon, Nonsense ; DNA, Complementary/metabolism ; Family Health ; Female ; Frameshift Mutation ; Humans ; Male ; Pakistan ; Recombinant Proteins/chemistry ; Sequence Analysis, DNA ; Spain
Czasopismo naukowe
Tytuł :
Novel genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH): a case report with frequent BRAF mutations analyzed by next-generation sequencing supporting benign behaviors of MMPH.
Autorzy :
Inoue C; Department of Anatomic Pathology, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan.; Personalized Medical Center, Tohoku University Hospital, Sendai, Miyagi, Japan.
Saito R; Department of Anatomic Pathology, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan. .; Department of Pathology, Tohoku University Hospital, Sendai, Miyagi, Japan. .
Kishikawa S; Department of Human Pathology, Juntendo University School of Medicine, Tokyo, Japan.
Hayashi T; Department of Human Pathology, Juntendo University School of Medicine, Tokyo, Japan.
Kumasaka T; Department of Pathology, Japanese Red Cross Medical Center, Tokyo, Japan.
Yamada T; Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Miyagi, Japan.
Oishi H; Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Miyagi, Japan.
Yamazaki Y; Department of Anatomic Pathology, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan.
Fujishima F; Department of Pathology, Tohoku University Hospital, Sendai, Miyagi, Japan.
Watanabe M; Department of Pathology, Tohoku University Hospital, Sendai, Miyagi, Japan.
Sasano H; Department of Anatomic Pathology, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan.; Department of Pathology, Tohoku University Hospital, Sendai, Miyagi, Japan.
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Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Sep; Vol. 479 (3), pp. 637-641. Date of Electronic Publication: 2021 Jan 14.
Typ publikacji :
Case Reports
MeSH Terms :
DNA Mutational Analysis*
High-Throughput Nucleotide Sequencing*
Mutation, Missense*
Alveolar Epithelial Cells/*pathology
Lung Diseases/*genetics
Proto-Oncogene Proteins B-raf/*genetics
Tuberous Sclerosis/*genetics
Adult ; Female ; Genetic Predisposition to Disease ; Humans ; Hyperplasia ; Lung Diseases/pathology ; Lung Diseases/surgery ; Lung Transplantation ; Phenotype ; Predictive Value of Tests ; Tuberous Sclerosis/pathology ; Tuberous Sclerosis/surgery
Raport
Tytuł :
Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups.
Autorzy :
M M YC; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Yu Q; Berry Genomics Corporation, Beijing, People's Republic of China.
Ma M; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Wang H; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Tian S; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Zhang W; Department of Clinical Laboratory, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
M M JZ; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Liu Y; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, People's Republic of China.
Yang Q; Berry Genomics Corporation, Beijing, People's Republic of China.
Pan X; Berry Genomics Corporation, Beijing, People's Republic of China.
Liang H; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Wang L; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Leigh D; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Cram DS; Berry Genomics Corporation, Beijing, People's Republic of China; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Yao Y; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Sep; Vol. 116 (3), pp. 774-783. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cytogenetic Analysis*
DNA Mutational Analysis*
Fertilization in Vitro*/adverse effects
Preimplantation Diagnosis*
Blastocyst/*pathology
Genetic Diseases, Inborn/*diagnosis
Infertility/*therapy
Chromosome Breakpoints ; Female ; Fertility ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/pathology ; Genetic Markers ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Mutation ; Polymorphism, Single Nucleotide ; Predictive Value of Tests ; Pregnancy ; Prospective Studies ; Risk Assessment ; Risk Factors ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Global variation in sequencing impedes SARS-CoV-2 surveillance.
Autorzy :
Crawford DC; Departments of Population and Quantitative Health Sciences and Genetics and Genome Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States of America.
Williams SM; Departments of Population and Quantitative Health Sciences and Genetics and Genome Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States of America.
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Źródło :
PLoS genetics [PLoS Genet] 2021 Jul 15; Vol. 17 (7), pp. e1009620. Date of Electronic Publication: 2021 Jul 15 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Epidemiological Monitoring*
Internationality*
DNA Mutational Analysis/*methods
DNA Mutational Analysis/*standards
SARS-CoV-2/*genetics
SARS-CoV-2/*isolation & purification
DNA Mutational Analysis/economics ; Humans ; United States
Czasopismo naukowe
Tytuł :
Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death.
Autorzy :
Adolfsson E; Department of Laboratory Medicine, Örebro University Hospital, Sweden; Faculty of Medicine and Health, Örebro University, Örebro Sweden. Electronic address: .
Qvick A; Department of Laboratory Medicine, Örebro University Hospital, Sweden; Faculty of Medicine and Health, Örebro University, Örebro Sweden.
Gréen H; Division of Drug Research, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
Kling D; Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
Gunnarsson C; Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden.
Jonasson J; Department of Laboratory Medicine, Örebro University Hospital, Sweden; Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Gréen A; Department of Laboratory Medicine, Örebro University Hospital, Sweden; Faculty of Medicine and Health, Örebro University, Örebro Sweden.
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Źródło :
Forensic science international. Genetics [Forensic Sci Int Genet] 2021 Jul; Vol. 53, pp. 102522. Date of Electronic Publication: 2021 Apr 26.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Death, Sudden, Cardiac/*etiology
Genetic Testing/*methods
High-Throughput Nucleotide Sequencing/*methods
Formaldehyde ; Humans ; Paraffin Embedding ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
The Diagnostic Utility of RAS Q61R Mutation-specific Immunohistochemistry in Epithelial-Myoepithelial Carcinoma.
Autorzy :
Nakaguro M; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Department of Pathology and Laboratory Medicine, Nagoya University Graduate School of Medicine, Nagoya.
Tanigawa M; Departments of Anatomic Pathology.
Hirai H; Departments of Anatomic Pathology.
Yamamoto Y; Departments of Anatomic Pathology.
Urano M; Department of Diagnostic Pathology, Fujita Health University, School of Medicine, Toyoake, Japan.
Takahashi RH; Departments of Anatomic Pathology.
Sukeda A; Departments of Anatomic Pathology.
Okumura Y; Department of Pathology and Laboratory Medicine, Nagoya University Graduate School of Medicine, Nagoya.
Honda S; Departments of Anatomic Pathology.
Tasaki K; Departments of Anatomic Pathology.
Shimizu A; Otorhinolaryngology, Head and Neck Surgery, Tokyo Medical University.
Tsukahara K; Otorhinolaryngology, Head and Neck Surgery, Tokyo Medical University.
Tada Y; Department of Head and Neck Oncology and Surgery, International University of Health and Welfare Mita Hospital, Tokyo.
Matsubayashi J; Departments of Anatomic Pathology.
Faquin WC; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Sadow PM; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Nagao T; Departments of Anatomic Pathology.
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Źródło :
The American journal of surgical pathology [Am J Surg Pathol] 2021 Jul 01; Vol. 45 (7), pp. 885-894.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural
MeSH Terms :
DNA Mutational Analysis*
Immunohistochemistry*
Mutation*
Biomarkers, Tumor/*genetics
Myoepithelioma/*genetics
Neoplasms, Glandular and Epithelial/*genetics
Proto-Oncogene Proteins p21(ras)/*genetics
Salivary Gland Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Diagnosis, Differential ; Female ; Humans ; Japan ; Male ; Middle Aged ; Myoepithelioma/pathology ; Neoplasms, Glandular and Epithelial/pathology ; Predictive Value of Tests ; Reproducibility of Results ; Retrospective Studies ; Salivary Gland Neoplasms/pathology
Czasopismo naukowe
Tytuł :
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Autorzy :
Spath K; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom; Juno Genetics, Oxford, United Kingdom. Electronic address: .
Babariya D; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom; Juno Genetics, Oxford, United Kingdom.
Konstantinidis M; CooperGenomics, Livingston, New Jersey.
Lowndes J; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopaedic Centre, Oxford, United Kingdom.
Child T; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom; Oxford Fertility, Fertility Partnership, Oxford, United Kingdom.
Grifo JA; NYU Fertility Center, New York, New York.
Poulton J; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.
Wells D; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom; Juno Genetics, Oxford, United Kingdom.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jun; Vol. 115 (6), pp. 1521-1532. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms :
Aneuploidy*
DNA Mutational Analysis*
Fertilization in Vitro*
Mutation*
Preimplantation Diagnosis*
Blastocyst/*pathology
DNA, Mitochondrial/*genetics
Leigh Disease/*diagnosis
Adult ; Female ; Genetic Predisposition to Disease ; Heredity ; High-Throughput Nucleotide Sequencing ; Humans ; Leigh Disease/genetics ; Leigh Disease/pathology ; Male ; Middle Aged ; Pedigree ; Predictive Value of Tests ; Pregnancy ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
Autorzy :
Martin AR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address: .
Atkinson EG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Chapman SB; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Stevenson A; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Stroud RE; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Abebe T; Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Akena D; Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Alemayehu M; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Ashaba FK; Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Atwoli L; Department of Mental Health, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
Bowers T; Broad Genomics, Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, MA 02141, USA.
Chibnik LB; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, Helsinki 00014, Finland.
DeSmet T; Broad Genomics, Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, MA 02141, USA.
Dodge S; Broad Genomics, Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, MA 02141, USA.
Fekadu A; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia; Centre for Innovative Drug Development & Therapeutic Trials for Africa, Addis Ababa University, Addis Ababa, Ethiopia.
Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, MA 02141, USA.
Gelaye B; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Gichuru S; Department of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya.
Injera WE; Department of Immunology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
James R; Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Kariuki SM; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford OX3 7JX, UK.
Kigen G; Department of Pharmacology and Toxicology, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.
Koenen KC; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Kwobah E; Department of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya.
Kyebuzibwa J; Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Majara L; Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; SA MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory 7925, South Africa.
Musinguzi H; Department of Immunology & Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Mwema RM; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
Neale BM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Newman CP; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Newton CRJC; Neurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya; Department of Psychiatry, University of Oxford, Oxford OX3 7JX, UK.
Pickrell JK; Gencove, Inc., New York, NY 10016, USA.
Ramesar R; SA MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town, South Africa.
Shiferaw W; Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Stein DJ; Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa; SA MRC Unit on Risk & Resilience in Mental Disorders, University of Cape Town and Neuroscience Institute, Cape Town, South Africa.
Teferra S; Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
van der Merwe C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Zingela Z; Department of Psychiatry and Human Behavioral Sciences, Walter Sisulu University, Mthatha, South Africa.
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Corporate Authors :
NeuroGAP-Psychosis Study Team
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Apr 01; Vol. 108 (4), pp. 656-668. Date of Electronic Publication: 2021 Mar 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis/*economics
DNA Mutational Analysis/*standards
Genetic Variation/*genetics
Genetics, Population/*economics
Africa ; DNA Mutational Analysis/methods ; Genetics, Population/methods ; Genome, Human/genetics ; Genome-Wide Association Study ; Health Equity ; Humans ; Microbiota ; Whole Genome Sequencing/economics ; Whole Genome Sequencing/standards
Czasopismo naukowe
Tytuł :
The Diagnostic and Prognostic Potential of the B-Cell Repertoire in Membranous Nephropathy.
Autorzy :
Su Z; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Jin Y; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Zhang Y; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Guan Z; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Li H; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Chen X; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Xie C; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Zhang C; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Liu X; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Li P; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Ye P; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Zhang L; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
Kong Y; Nephrology Department, The First People's Hospital of Foshan, Foshan, China.
Luo W; Clinical Research Institute, The First People's Hospital of Foshan, Foshan, China.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 May 27; Vol. 12, pp. 635326. Date of Electronic Publication: 2021 May 27 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Complementarity Determining Regions*
DNA Mutational Analysis*
Genes, Immunoglobulin Heavy Chain*
Point Mutation*
B-Lymphocytes/*immunology
Glomerulonephritis, Membranous/*diagnosis
Adolescent ; Adult ; Aged ; Case-Control Studies ; Female ; Glomerulonephritis, Membranous/genetics ; Glomerulonephritis, Membranous/immunology ; Glomerulonephritis, Membranous/therapy ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Predictive Value of Tests ; Prognosis ; Young Adult
Czasopismo naukowe
Tytuł :
TILLING-by-Sequencing Reveals the Role of Novel Fatty Acid Desaturases (GmFAD2-2s) in Increasing Soybean Seed Oleic Acid Content.
Autorzy :
Lakhssassi N; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
Lopes-Caitar VS; Department of Plant Sciences, University of Tennessee, Knoxville, TN 37996, USA.
Knizia D; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
Cullen MA; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
Badad O; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
El Baze A; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
Zhou Z; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
Embaby MG; Department of Animal Science, Food, and Nutrition, Southern Illinois University, Carbondale, IL 62901, USA.
Meksem J; Trinity College of Arts and Sciences, Duke University, Durham, NC 27708, USA.
Lakhssassi A; Faculty of Sciences and Technologies, University of Lorraine, 54506 Nancy, France.
Chen P; Division of Plant Sciences, University of Missouri, Columbia, MO 65211, USA.
AbuGhazaleh A; Department of Animal Science, Food, and Nutrition, Southern Illinois University, Carbondale, IL 62901, USA.
Vuong TD; Division of Plant Sciences, University of Missouri, Columbia, MO 65211, USA.
Nguyen HT; Division of Plant Sciences, University of Missouri, Columbia, MO 65211, USA.
Hewezi T; Department of Plant Sciences, University of Tennessee, Knoxville, TN 37996, USA.
Meksem K; Department of Plant, Soil and Agricultural Systems, Southern Illinois University, Carbondale, IL 62901, USA.
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Źródło :
Cells [Cells] 2021 May 19; Vol. 10 (5). Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Mutagenesis, Site-Directed*
Fatty Acid Desaturases/*metabolism
Oleic Acid/*metabolism
Plant Proteins/*metabolism
Plants, Genetically Modified/*enzymology
Seeds/*enzymology
Soybeans/*enzymology
Fatty Acid Desaturases/genetics ; Gene Expression Regulation, Plant ; Genotype ; High-Throughput Nucleotide Sequencing ; Mutation ; Phenotype ; Phylogeny ; Plant Proteins/genetics ; Plants, Genetically Modified/genetics ; Seeds/genetics ; Soybeans/genetics
Czasopismo naukowe
Tytuł :
Stability across the Whole Nuclear Genome in the Presence and Absence of DNA Mismatch Repair.
Autorzy :
Lujan SA; Genome Integrity Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC 27709, USA.
Kunkel TA; Genome Integrity Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC 27709, USA.
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Źródło :
Cells [Cells] 2021 May 17; Vol. 10 (5). Date of Electronic Publication: 2021 May 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms :
DNA Damage*
DNA Mismatch Repair*
DNA Mutational Analysis*
Genomic Instability*
Mutation Rate*
Whole Genome Sequencing*
Cell Nucleus/*genetics
Humans
Czasopismo naukowe
Tytuł :
Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes.
Autorzy :
Wang S; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Li H; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Song M; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Tao Z; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Wu T; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
He Z; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Zhao X; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.; Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.
Wu K; Department of Thoracic Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Liu XS; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.
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Źródło :
PLoS genetics [PLoS Genet] 2021 May 04; Vol. 17 (5), pp. e1009557. Date of Electronic Publication: 2021 May 04 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Genomics*
Software*
DNA Copy Number Variations/*genetics
Mutagenesis/*genetics
Prostatic Neoplasms/*diagnosis
Prostatic Neoplasms/*genetics
Biomarkers, Tumor ; Genome, Human/genetics ; Genomic Instability ; Humans ; Male ; Prognosis ; Proportional Hazards Models ; Prostatic Neoplasms/classification ; Survival Analysis ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Testing EGFR with Idylla on Cytological Specimens of Lung Cancer: A Review.
Autorzy :
Caputo A; Department of Medicine and Surgery, University of Salerno, 84081 Salerno, Italy.
D'Ardia A; Department of Medicine and Surgery, University of Salerno, 84081 Salerno, Italy.
Sabbatino F; Department of Medicine and Surgery, University of Salerno, 84081 Salerno, Italy.
Picariello C; Department of Pathology, University Hospital 'San Giovanni di Dio e Ruggi D'Aragona', 84125 Salerno, Italy.
Ciaparrone C; Department of Pathology, University Hospital 'San Giovanni di Dio e Ruggi D'Aragona', 84125 Salerno, Italy.
Zeppa P; Department of Medicine and Surgery, University of Salerno, 84081 Salerno, Italy.; Department of Pathology, University Hospital 'San Giovanni di Dio e Ruggi D'Aragona', 84125 Salerno, Italy.
D'Antonio A; Department of Pathology, University Hospital 'San Giovanni di Dio e Ruggi D'Aragona', 84125 Salerno, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 May 03; Vol. 22 (9). Date of Electronic Publication: 2021 May 03.
Typ publikacji :
Journal Article; Review
MeSH Terms :
DNA Mutational Analysis*
Genetic Testing*
Carcinoma, Non-Small-Cell Lung/*diagnosis
Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/pathology ; ErbB Receptors/genetics ; Humans ; Mutation/genetics ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer.
Autorzy :
Velasco A; Departments of Pathology and Molecular Genetics, Hospital U Arnau de Vilanova and Hospital U de Bellvitge, University of Lleida, IRBLLEIDA, IDIBELL, CIBERONC, Av. Alcalde Rovira Roure, 80 25198, Lleida, Spain. .
Tokat F; Department of Pathology, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Bonde J; Molecular Pathology Laboratory, Department of Pathology, afs. 134, Hvidovre Hospital, Hvidovre, Denmark.
Trim N; Molecular Pathology Diagnostic Service, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Bauer E; Städtisches Klinikum Karlsruhe gGmbH, Institut für Pathologie, Karlsruhe, Germany.
Meeney A; Ophthalmic Pathology Laboratory Histopathology, Royal Hallamshire Hospital, Glossop Road, Sheffield, UK.
de Leng W; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Chong G; Molecular Pathology Centre, Jewish General Hospital-McGill University, Montreal, Quebec, Canada.
Dalstein V; Laboratoire de Biopathologie, Unité INSERM UMR-S 1250, CHU Reims, Reims, France.
Kis LL; Department of Clinical Pathology and Cytology, Karolinska University Hospital, Stockholm, Sweden.
Lorentzen JA; Molecular Pathology Unit, Department of Pathology, Oslo University Hospital, Oslo, Norway.
Tomić S; Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split, Croatia.
Thwaites K; Histopathology Department, Barking, Havering and Redbridge University Hospitals NHS Trust, Queen's Hospital, Romford, UK.
Putzová M; Bioptická laboratoř s.r.o., Laboratory of Molecular Genetics, Plzeň, Czech Republic.; ÚBLG FN Motol, Praha, Czech Republic.; LF UK, Plzeň, Czech Republic.
Birnbaum A; Institute of Pathology, Dessau, Germany.
Qazi R; Department of Pathology, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Johr Town, Lahore, Pakistan.
Primmer V; Pathologisch-Bakteriologisches Institut Kaiser-Franz-Josef-Spital, Vienna, Austria.
Dockhorn-Dworniczak B; Zentrum für Pathologie Kempten-Allgäu (MVZ), Kempten, Germany.
Hernández-Losa J; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain.
Soares FA; Anatomia Patológica Rede D'Or, São Paulo, SP, Brazil.
Gertler AA; Department of Pathology, Hadassah Medical Center, Jerusalem, Israel.
Kalman M; Department of Pathologic Anatomy, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovak Republic.; Martin's Biopsy Center Ltd., Martin, Slovak Republic.
Wong C; Hong Kong Molecular Pathology Diagnostic Centre, Hong Kong Special Administrative Region of the People's Republic of China, Hong Kong, People's Republic of China.
Carraro DM; Genomics and Molecular Biology Group, International Research Center/CIPE, A. C. Camargo Cancer Center, São Paulo, SP, Brazil.
Sousa AC; GenoMed, Diagnósticos de Medicina Molecular, SA, Lisbon, Portugal.
Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Fox SB; Pathology, Peter MacCallum Cancer Centre and University of Melbourne, Vic, Australia.
Fassan M; Surgical Pathology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
Brevet M; Department of Pathology, Hospices Civils de Lyon, Université Lyon 1, Bron, France & Cypath, Villeurbanne, France.
Merkelbach-Bruse S; Institute of Pathology, University Hospital Cologne, Cologne, Germany.
Colling R; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.
Soilleux E; Department of Pathology, University of Cambridge, Cambridge, UK.
Teo RYW; Department of Pathology, Tan Tock Seng Hospital, Novena, Republic of Singapore.
D'Haene N; Department of Pathology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Nolet S; Département de Pathologie et Biologie Cellulaire, Université de Montréal, Montreal, Québec, Canada.
Ristimäki A; Department of Pathology, Research Programs Unit and HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Väisänen T; Oulu University Hospital and Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu, Oulu, Finland.
Chapusot C; Platform of Somatic Oncology of Burgundy, CHU, Dijon, France.
Soruri A; Institut für Pathologie und Molekularpathologie, Pforzheim, Germany.
Unger T; Institut für Pathologie, University of Leipzig, Leipzig, Germany.
Wecgowiec J; Institut für Pathologie, Evangelisches Krankenhaus BETHESDA Zu Duisburg GmbH, Duisburg, Germany.
Biscuola M; Department of Pathology, Molecular Pathology Laboratory, Hospital Universitario Virgen del Rocío-IBIS, Seville, Spain.
Frattini M; Laboratory of Molecular Pathology, Institute of Pathology, Locarno, Switzerland.
Long A; Cellular Pathology, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Campregher PV; Hospital Israelita Albert Einstein, São Paulo, Brazil.
Matias-Guiu X; Departments of Pathology and Molecular Genetics, Hospital U Arnau de Vilanova and Hospital U de Bellvitge, University of Lleida, IRBLLEIDA, IDIBELL, CIBERONC, Av. Alcalde Rovira Roure, 80 25198, Lleida, Spain.
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Źródło :
Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 May; Vol. 478 (5), pp. 851-863. Date of Electronic Publication: 2020 Nov 10.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study
MeSH Terms :
Biomarkers, Tumor*/analysis
Biomarkers, Tumor*/genetics
DNA Mutational Analysis*
Immunohistochemistry*
Microsatellite Instability*
Mutation*
Paraffin Embedding*
Tissue Fixation*
Colorectal Neoplasms/*chemistry
Colorectal Neoplasms/*genetics
Automation, Laboratory ; Colorectal Neoplasms/pathology ; Fixatives ; Formaldehyde ; Humans ; Predictive Value of Tests ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy.
Autorzy :
Palmieri M; Medical Genetics, University of Siena, Siena, Italy.
Di Sarno L; Medical Genetics, University of Siena, Siena, Italy.
Tommasi A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Currò A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Doddato G; Medical Genetics, University of Siena, Siena, Italy.
Baldassarri M; Medical Genetics, University of Siena, Siena, Italy.
Frullanti E; Medical Genetics, University of Siena, Siena, Italy.
Giliberti A; Medical Genetics, University of Siena, Siena, Italy.
Fallerini C; Medical Genetics, University of Siena, Siena, Italy.
Arzini A; Chirurgia Vascolare, Ospedale Maggiore di Crema, Largo Ugo Dossena, Crema, Italy.
Pinto A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Vaghi M; Chirurgia Vascolare, Ospedale Maggiore di Crema, Largo Ugo Dossena, Crema, Italy; Radiologia interventistica, Ospedale Maggiore di Crema, Crema, Italy.
Renieri A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: .
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Źródło :
Journal of vascular surgery. Venous and lymphatic disorders [J Vasc Surg Venous Lymphat Disord] 2021 May; Vol. 9 (3), pp. 740-744. Date of Electronic Publication: 2020 Aug 26.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
High-Throughput Nucleotide Sequencing*
Mutation*
Cell-Free Nucleic Acids/*genetics
Lymphatic Abnormalities/*genetics
Proto-Oncogene Proteins c-met/*genetics
Vascular Malformations/*genetics
Adult ; Cell-Free Nucleic Acids/blood ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Italy ; Liquid Biopsy ; Lymphatic Abnormalities/diagnostic imaging ; Male ; Middle Aged ; Phenotype ; Predictive Value of Tests ; Prospective Studies ; Proto-Oncogene Proteins c-met/blood ; Risk Assessment ; Risk Factors ; Vascular Malformations/diagnostic imaging
Czasopismo naukowe
Tytuł :
Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma.
Autorzy :
Hou P; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Su X; Department of Pathology, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Cao W; Department of General Surgery, The First Affiliated Hospital of Nanchang University, No.17, Yongwaizheng Street, Nanchang, China.
Xu L; Department of Pathology, The Third Affiliated Hospital of Nanchang University, No.128, Xiangshan Road, Nanchang, China.
Zhang R; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Huang Z; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Wang J; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Li L; Department of Pathology, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China.
Wu L; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China. .
Liao W; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital of Nanchang University, No.1, Minde Road, Nanchang, China. .
Pokaż więcej
Źródło :
Diagnostic pathology [Diagn Pathol] 2021 Apr 08; Vol. 16 (1), pp. 29. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Case Reports
MeSH Terms :
DNA Mutational Analysis*
Germ-Line Mutation*
Whole Exome Sequencing*
Biomarkers, Tumor/*genetics
Carcinoma, Mucoepidermoid/*genetics
Liver Neoplasms/*genetics
Carcinoma, Mucoepidermoid/diagnostic imaging ; Carcinoma, Mucoepidermoid/pathology ; Carcinoma, Mucoepidermoid/surgery ; Chromogranins/genetics ; Endodeoxyribonucleases/genetics ; Exodeoxyribonucleases/genetics ; Fanconi Anemia Complementation Group A Protein/genetics ; Fanconi Anemia Complementation Group Proteins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Liver Neoplasms/diagnostic imaging ; Liver Neoplasms/pathology ; Liver Neoplasms/surgery ; Male ; Middle Aged ; Multifunctional Enzymes/genetics ; Predictive Value of Tests ; RNA Helicases/genetics
Raport

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