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Wyszukujesz frazę ""MutL Protein Homolog 1"" wg kryterium: Temat


Tytuł :
Lynch syndrome-associated repeated stroke with MLH1 frame-shift mutation.
Autorzy :
Zhang M; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Yang H; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Chen Z; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Fan Y; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Hu X; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Liu W; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China. .
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Apr; Vol. 42 (4), pp. 1631-1635. Date of Electronic Publication: 2021 Jan 12.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis*/complications
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnostic imaging
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
MutL Protein Homolog 1*/genetics
Stroke*
Adult ; DNA Mismatch Repair ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
MLH1 Deficiency-Triggered DNA Hyperexcision by Exonuclease 1 Activates the cGAS-STING Pathway.
Autorzy :
Guan J; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Lu C; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Jin Q; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Lu H; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Chen X; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Tian L; Department of Cancer Biology, Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Zhang Y; Department of Biochemistry & Molecular Biology, University of Miami Miller School of Medicine, Miami, FL, USA.
Ortega J; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Zhang J; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Siteni S; Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Chen M; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Gu L; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Shay JW; Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Davis AJ; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Chen ZJ; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Fu YX; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: .
Li GM; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: .
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Źródło :
Cancer cell [Cancer Cell] 2021 Jan 11; Vol. 39 (1), pp. 109-121.e5. Date of Electronic Publication: 2020 Dec 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Signal Transduction*
DNA Repair Enzymes/*metabolism
Exodeoxyribonucleases/*metabolism
MutL Protein Homolog 1/*deficiency
Neoplasms/*genetics
Animals ; Cell Line, Tumor ; DNA Breaks, Single-Stranded ; DNA Mismatch Repair ; DNA Repair ; DNA, Single-Stranded/metabolism ; HeLa Cells ; Humans ; Membrane Proteins/metabolism ; Mice ; MutL Protein Homolog 1/metabolism ; Neoplasms/metabolism ; Nucleotidyltransferases/metabolism ; Replication Protein A/metabolism
Czasopismo naukowe
Tytuł :
Protons and High-Linear Energy Transfer Radiation Induce Genetically Similar Lymphomas With High Penetrance in a Mouse Model of the Aging Human Hematopoietic System.
Autorzy :
Patel R; Department of Radiation Oncology, Duke University, Durham, North Carolina.
Zhang L; Department of Medicine, Case Western Reserve University, Cleveland, Ohio.
Desai A; Department of Medicine, Case Western Reserve University, Cleveland, Ohio; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio.
Hoenerhoff MJ; Unit for Laboratory Animal Medicine, University of Michigan, Ann Arbor, Michigan.
Kennedy LH; Unit for Laboratory Animal Medicine, University of Michigan, Ann Arbor, Michigan.
Radivoyevitch T; Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, Ohio.
La Tessa C; University of Trento, Trento, Italy; Trento Institute for Fundamental Physics and Applications TIFPA-INFN, Trento, Italy.
Gerson SL; Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio.
Welford SM; Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida; Department of Radiation Oncology, University of Miami, Miami, Florida. Electronic address: .
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Źródło :
International journal of radiation oncology, biology, physics [Int J Radiat Oncol Biol Phys] 2020 Nov 15; Vol. 108 (4), pp. 1091-1102. Date of Electronic Publication: 2020 Jul 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Linear Energy Transfer*
Hematopoietic System/*radiation effects
Lymphoma/*genetics
MutL Protein Homolog 1/*deficiency
Neoplasms, Radiation-Induced/*genetics
Protons/*adverse effects
Silicon/*adverse effects
Aging ; Animals ; DNA Mismatch Repair ; Disease Models, Animal ; Female ; Gene Expression Profiling ; Hematopoietic System/physiology ; Humans ; Lymphoma/pathology ; Male ; Mice ; MutL Protein Homolog 1/genetics ; Neoplasms, Radiation-Induced/pathology ; Penetrance ; Radiation Exposure/adverse effects ; Sequence Analysis, RNA/methods ; Space Flight ; Whole-Body Irradiation/adverse effects ; Whole-Body Irradiation/methods
Czasopismo naukowe
Tytuł :
Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer.
Autorzy :
Xiao B; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Luo J; Institute of Cancer and Basic Medicine (ICBM), Chinese Academy of Sciences; Cancer Hospital of the University of Chinese Academy of Sciences; Zhejiang Cancer Hospital, Zhejiang, China.
Xie E; Department of General Surgery, the Affiliated Shantou Hospital of Sun Yat-sen University, Guangdong, 515000, China.
Kong L; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Tang J; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Liu D; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Mao L; Guangzhou Kingmed Diagnostics Group Co., Ltd. Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd., Guangzhou, China.
Sui Q; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Li W; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Hong Z; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China.
Pan Z; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China. .
Jiang W; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China. .
Ding PR; Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center of Cancer Medicine, Guangzhou, 510060, China. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Nov; Vol. 28 (11), pp. 1555-1562. Date of Electronic Publication: 2020 Jul 13.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Genetic Testing/*methods
MutL Protein Homolog 1/*deficiency
Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Costs and Cost Analysis ; DNA Methylation ; Female ; Genetic Testing/economics ; Genetic Testing/standards ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1/genetics ; Mutation ; Proto-Oncogene Proteins B-raf
Czasopismo naukowe
Tytuł :
Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.
Autorzy :
Takahashi N; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Rajapakse VN; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Pongor L; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Kumar S; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Tlemsani C; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Erwin-Cohen R; Cancer and Inflammation Program, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702, USA.
Young HA; Laboratory of Cancer Immunometabolism, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702, USA.
Hewitt S; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Wei JS; Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Khan J; Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Villarino AV; Department of Microbiology and Immunology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
Trepel JB; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Thomas A; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
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Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Oct 07; Vol. 6 (5). Date of Electronic Publication: 2020 Oct 07 (Print Publication: 2020).
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Janus Kinase 1/*genetics
MutL Protein Homolog 1/*genetics
Neoplasms/*metabolism
Biomarkers, Tumor/genetics ; DNA Mismatch Repair/genetics ; DNA Mismatch Repair/physiology ; Female ; Genomics ; Humans ; Immunity/immunology ; Immunotherapy/methods ; Janus Kinase 1/metabolism ; Microsatellite Instability ; Middle Aged ; MutL Protein Homolog 1/metabolism ; Mutation
Czasopismo naukowe
Tytuł :
Regulation of the MLH1-MLH3 endonuclease in meiosis.
Autorzy :
Cannavo E; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland.
Sanchez A; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland.
Anand R; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland.
Ranjha L; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland.
Hugener J; Department of Biology, Institute of Biochemistry, Eidgenössische Technische Hochschule (ETH), Zürich, Switzerland.
Adam C; Institut Curie, PSL Research University, CNRS UMR3244, Paris, France.; Paris Sorbonne Université, Paris, France.
Acharya A; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland.; Department of Biology, Institute of Biochemistry, Eidgenössische Technische Hochschule (ETH), Zürich, Switzerland.
Weyland N; Institute of Molecular Cancer Research, University of Zürich, Zürich, Switzerland.
Aran-Guiu X; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, UK.
Charbonnier JB; I2BC, iBiTec-S, CEA, CNRS UMR 9198, Université Paris-Sud, Gif-sur-Yvette, France.; Université Paris Sud, Orsay, France.
Hoffmann ER; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, UK.; DNRF Center for Chromosome Stability, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Borde V; Institut Curie, PSL Research University, CNRS UMR3244, Paris, France.; Paris Sorbonne Université, Paris, France.
Matos J; Department of Biology, Institute of Biochemistry, Eidgenössische Technische Hochschule (ETH), Zürich, Switzerland.
Cejka P; Institute for Research in Biomedicine, Faculty of Biomedical Sciences, Università della Svizzera italiana (USI), Bellinzona, Switzerland. .; Department of Biology, Institute of Biochemistry, Eidgenössische Technische Hochschule (ETH), Zürich, Switzerland. .
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Źródło :
Nature [Nature] 2020 Oct; Vol. 586 (7830), pp. 618-622. Date of Electronic Publication: 2020 Aug 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Crossing Over, Genetic*
Meiosis*
Endonucleases/*metabolism
MutL Protein Homolog 1/*metabolism
MutL Proteins/*metabolism
Amino Acid Motifs ; Amino Acid Sequence ; Cell Cycle Proteins/metabolism ; Chromosomes, Human/genetics ; Conserved Sequence ; DNA/metabolism ; DNA Cleavage ; DNA Repair Enzymes/metabolism ; DNA, Cruciform/metabolism ; Exodeoxyribonucleases/metabolism ; Humans ; MutL Protein Homolog 1/chemistry ; MutL Proteins/chemistry ; MutS Proteins/metabolism ; Proliferating Cell Nuclear Antigen/metabolism ; Replication Protein C/metabolism
Czasopismo naukowe
Tytuł :
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.
Autorzy :
Li F; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Xia Y; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Wang G; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Tang C; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Zhan T; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Shen J; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Zhang J; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1295. Date of Electronic Publication: 2020 Jun 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Genetic Testing/*methods
MutL Protein Homolog 1/*genetics
Cells, Cultured ; China ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Genetic Testing/standards ; Humans ; Loss of Function Mutation ; MutL Protein Homolog 1/chemistry ; MutL Protein Homolog 1/metabolism ; Pedigree ; Protein Domains ; RNA Stability
Czasopismo naukowe
Tytuł :
DNMT1 promotes cell proliferation via methylating hMLH1 and hMSH2 promoters in EGFR-mutated non-small cell lung cancer.
Autorzy :
Wu XY; Department of Respiration, Jinhua Guangfu Cancer Hospital, No. 1296, North Huancheng Rd, Wucheng District, Jinhua, Zhejiang 321000, China.
Chen HC; Department of Respiration, Jinhua Guangfu Cancer Hospital, No. 1296, North Huancheng Rd, Wucheng District, Jinhua, Zhejiang 321000, China.
Li WW; Department of Respiration, Jinhua Guangfu Cancer Hospital, No. 1296, North Huancheng Rd, Wucheng District, Jinhua, Zhejiang 321000, China.
Yan JD; Department of Respiration, Jinhua Guangfu Cancer Hospital, No. 1296, North Huancheng Rd, Wucheng District, Jinhua, Zhejiang 321000, China.
Lv RY; Department of Respiration, Jinhua Guangfu Cancer Hospital, No. 1296, North Huancheng Rd, Wucheng District, Jinhua, Zhejiang 321000, China.
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Źródło :
Journal of biochemistry [J Biochem] 2020 Aug 01; Vol. 168 (2), pp. 151-157.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Methylation*
Promoter Regions, Genetic*
Carcinoma, Non-Small-Cell Lung/*genetics
DNA (Cytosine-5-)-Methyltransferase 1/*metabolism
Lung Neoplasms/*genetics
MutL Protein Homolog 1/*genetics
MutS Homolog 2 Protein/*genetics
A549 Cells ; Carcinoma, Non-Small-Cell Lung/metabolism ; Carcinoma, Non-Small-Cell Lung/pathology ; Cell Proliferation ; ErbB Receptors/genetics ; ErbB Receptors/metabolism ; Female ; Humans ; Lung Neoplasms/metabolism ; Lung Neoplasms/pathology ; Male ; Middle Aged ; MutL Protein Homolog 1/metabolism ; MutS Homolog 2 Protein/metabolism ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł :
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Autorzy :
Gao D; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Morini E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
Salani M; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Krauson AJ; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Chekuri A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
Sharma N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ragavendran A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Erdin S; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Logan EM; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Li W; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Dakka A; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Narasimhan J; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Zhao X; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Naryshkin N; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Trotta CR; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Effenberger KA; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Woll MG; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Gabbeta V; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Karp G; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Yu Y; PTC Therapeutics, Inc., South Plainfield, NJ, USA.
Johnson G; NuPharmAdvise LLC, Sanbornton, NH, USA.
Paquette WD; Albany Molecular Research Inc., Albany, NY, USA.
Cutting GR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA. .; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA. .; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. .
Slaugenhaupt SA; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA. .; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA. .
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Źródło :
Nature communications [Nat Commun] 2021 Jun 07; Vol. 12 (1), pp. 3332. Date of Electronic Publication: 2021 Jun 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Deep Learning*
RNA Splicing*
Gene Targeting/*methods
Animals ; Computational Biology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Exons ; HEK293 Cells ; Humans ; Mice ; Mice, Transgenic ; MutL Protein Homolog 1/genetics ; Mutation ; Phenethylamines/administration & dosage ; Pyridazines/administration & dosage ; Sterol Esterase/genetics ; Transcriptome ; tau Proteins/genetics
Czasopismo naukowe
Tytuł :
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Autorzy :
Dominguez-Valentin M; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway. .
Crosbie EJ; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK. .; Directorate of Gynaecology, Manchester University NHS Foundation Trust, Manchester, UK. .
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Macrae F; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, Melbourne University, Melbourne, Australia.
Winship I; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, Melbourne University, Melbourne, Australia.
Capella G; Hereditary Cancer Program, Institut Catal. d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Thomas H; St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK.
Nakken S; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.; Centre for Cancer Cell Reprogramming, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Hovig E; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.; Department of Informatics, University of Oslo, Oslo, Norway.
Nielsen M; Leids Universitair Medisch Centrum, Leiden, Netherlands.
Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Bertario L; IEO, European Institute of Oncology IRCCS, Milan, Italy.; Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Bonanni B; IEO, European Institute of Oncology IRCCS, Milan, Italy.
Tibiletti MG; Ospedale di Circolo ASST Settelaghi, Centro di Ricerca tumori eredo-familiari, Università dell'Insubria, Varese, Italy.
Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy.
Mints M; Department of Women's and Children's health, Division of Obstetrics and Gyneacology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
Gluck N; Tel-Aviv Sourasky Medical Center, Research Center for Digestive Disorders and Liver Diseases, Tel-Aviv, Israel.; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Katz L; High Risk and GI Cancer prevention Clinic, Gastro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Tel-Aviv, Israel.
Heinimann K; Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Vaccaro CA; Hereditary Cancer Program (PROCANHE) Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina.
Green K; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Hill J; Department of Surgery, Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK.
Schmiegel W; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Vangala D; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Perne C; Institute of Human Genetics, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Strauß HG; Department of Gynaecology, University Clinics, Martin-Luther University, Halle-Wittenberg, Germany.
Tecklenburg J; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany.
Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany.
Mecklin JP; Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.; Department of Surgery, Central Finland Health Care District, Jyväskylä, Finland.
Plazzer JP; The Royal Melbourne Hospital, Melbourne, Australia.
Pineda M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Navarro M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Vidal JB; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Kariv R; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Rosner G; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Piñero TA; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina.
Gonzalez ML; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina.
Kalfayan P; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina.
Ryan N; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK.
Ten Broeke SW; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Burn J; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Greenblatt M; University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA.
de Vos Tot Nederveen Cappel WH; Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, The Netherlands.
Della Valle A; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo, Uruguay.
Lopez-Koestner F; Lab. Oncología y Genética Molecular, Unidad de coloproctología Clínica Las Condes, Santiago, Chile.
Alvarez K; Lab. Oncología y Genética Molecular, Unidad de coloproctología Clínica Las Condes, Santiago, Chile.
Büttner R; Institute of Pathology, University of Cologne, Cologne, Germany.
Görgens H; Department of Surgery, Technische Universität Dresden, Dresden, Germany.
Morak M; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany.
Holzapfel S; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Department of Internal Medicine I, University Hospital Bonn; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Hüneburg R; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Department of Internal Medicine I, University Hospital Bonn; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
von Knebel Doeberitz M; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Rahner N; Institute of Human Genetics, Medical School, Heinrich Heine University, Duesseldorf, Germany.
Weitz J; Department of Surgery, Technische Universität Dresden, Dresden, Germany.
Pylvänäinen K; Department of Education and Science, Central Finland Health Care District, yväskylä, Finland.
Renkonen-Sinisalo L; Department of Obstetrics and Gynecology and Tays Cancer Centre, Tampere University Hospital and Tampere University, Tampere, Finland.
Lepistö A; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
Auranen A; Department of Obstetrics and Gynecology and Tays Cancer Centre, Tampere University Hospital and Tampere University, Tampere, Finland.
Hopper JL; Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ, USA.
Win AK; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Haile RW; Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University, Stanford, USA.
Lindor NM; Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ, USA.
Gallinger S; Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Le Marchand L; University of Hawaii Cancer Center, Honolulu, HI, USA.
Newcomb PA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Figueiredo JC; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Therkildsen C; The Danish HNPCC register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark.
Okkels H; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.
Ketabi Z; Dept. of Obstetrics and Gynaecology, Copenhagen University Hospital, Rigshospitalet, Denmark.
Denton OG; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
Rødland EA; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.
Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.
Neffa F; Institute of Pathology, University of Cologne, Cologne, Germany.
Esperon P; Institute of Pathology, University of Cologne, Cologne, Germany.
Tjandra D; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melborne, Australia.; Department of Medicine, Melbourne University, Melborne, Australia.
Möslein G; Surgical Center for Hereditary Tumors, Ev. Bethesda Khs Duisburg, University Witten-Herdecke, Herdecke, Germany.
Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
Evans DG; Division of Evolution and Genomic Medicine, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Seppälä TT; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.; Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore, MD, USA.
Møller P; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 705-712. Date of Electronic Publication: 2020 Dec 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis*/epidemiology
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/prevention & control
DNA Mismatch Repair/genetics ; Female ; Heterozygote ; Humans ; Hysterectomy ; Middle Aged ; Mismatch Repair Endonuclease PMS2/genetics ; MutL Protein Homolog 1/genetics ; Prospective Studies ; Salpingo-oophorectomy
Czasopismo naukowe
Tytuł :
Human MutLγ, the MLH1-MLH3 heterodimer, is an endonuclease that promotes DNA expansion.
Autorzy :
Kadyrova LY; Department of Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL 62901.
Gujar V; Department of Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL 62901.
Burdett V; Department of Biochemistry, Duke University Medical Center, Durham, NC 27710.
Modrich PL; Department of Biochemistry, Duke University Medical Center, Durham, NC 27710; .; Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710.
Kadyrov FA; Department of Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL 62901; .
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Feb 18; Vol. 117 (7), pp. 3535-3542. Date of Electronic Publication: 2020 Feb 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
MutL Protein Homolog 1/*metabolism
MutL Proteins/*metabolism
DNA Mismatch Repair ; Dimerization ; Endonucleases/chemistry ; Endonucleases/genetics ; Endonucleases/metabolism ; Humans ; MutL Protein Homolog 1/chemistry ; MutL Protein Homolog 1/genetics ; MutL Proteins/chemistry ; MutL Proteins/genetics ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Extracellular vesicles transmitted miR-31-5p promotes sorafenib resistance by targeting MLH1 in renal cell carcinoma.
Autorzy :
He J; Department of Biotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.; Department of Head and Neck Cancer, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
He J; State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Min L; Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
He Y; Department of Biotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Guan H; Department of Biotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Wang J; Department of Biotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Peng X; Department of Biotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
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Źródło :
International journal of cancer [Int J Cancer] 2020 Feb 15; Vol. 146 (4), pp. 1052-1063. Date of Electronic Publication: 2019 Jul 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carcinoma, Renal Cell/*drug therapy
Extracellular Vesicles/*metabolism
MicroRNAs/*metabolism
MutL Protein Homolog 1/*metabolism
Sorafenib/*pharmacology
Animals ; Antineoplastic Agents/pharmacology ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/metabolism ; Extracellular Vesicles/genetics ; Humans ; Kidney Neoplasms/drug therapy ; Kidney Neoplasms/genetics ; Kidney Neoplasms/metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; MutL Protein Homolog 1/biosynthesis ; MutL Protein Homolog 1/genetics ; Xenograft Model Antitumor Assays
Czasopismo naukowe
Tytuł :
Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases.
Autorzy :
Malik SS; Fatima Jinnah Women University, The Mall Rawalpindi, Rawalpindi, Pakistan. .; Armed Forces Institute of Pathology, Rawalpindi, Pakistan. .
Zia A; National Centre for Bioinformatics, Quaid-i-Azam University, Islamabad, Pakistan.
Mubarik S; Department of Epidemiology and Biostatistics, School of Health Sciences, Wuhan University, Wuhan, China.
Masood N; Fatima Jinnah Women University, The Mall Rawalpindi, Rawalpindi, Pakistan.
Rashid S; National Centre for Bioinformatics, Quaid-i-Azam University, Islamabad, Pakistan.
Sherrard A; Department of Cellular and Molecular Medicine, School of Life Sciences, Bristol University, Bristol, UK.
Khan MB; Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
Khadim MT; Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
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Źródło :
Molecular biology reports [Mol Biol Rep] 2020 Jan; Vol. 47 (1), pp. 683-692. Date of Electronic Publication: 2019 Nov 08.
Typ publikacji :
Journal Article
MeSH Terms :
Breast Neoplasms*/chemistry
Breast Neoplasms*/genetics
Breast Neoplasms*/mortality
MutL Protein Homolog 1*/analysis
MutL Protein Homolog 1*/chemistry
MutL Protein Homolog 1*/genetics
MutL Protein Homolog 1*/metabolism
Adult ; Breast/chemistry ; DNA Mutational Analysis ; Down-Regulation/genetics ; Female ; Humans ; Middle Aged ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł :
ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report.
Autorzy :
Durán M; Instituto de Biología Y Genética Molecular, IBGM University of Valladolid, Sanz Y Fores Street, 3, 47003, Valladolid, Spain.
Faull I; Guardant Health, 505 Penobscot Dr, Redwood, CA, 94063, USA.
Lastra E; Molecular Tumor Board, Genetic Counselling Unit, Medical Oncology Department, Hospital Universitario de Burgos, Av. Islas Baleares, 3, 09006, Burgos, Spain. .
Laes JF; ONCODNA, Rue Louis Breguet 1, 6041, Gosselies, Belgium.
Rodrigo AB; ONCODNA, Rue Louis Breguet 1, 6041, Gosselies, Belgium.
Sánchez-Escribano R; Medical Oncology Department, Hospital Clínico Universitario De Valladolid, Av. Ramón Y Cajal, 3, 47003, Valladolid, Spain.
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Źródło :
Journal of medical case reports [J Med Case Rep] 2021 Feb 19; Vol. 15 (1), pp. 89. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Adenocarcinoma of Lung*
Lung Neoplasms*/genetics
Lung Neoplasms*/therapy
CD8-Positive T-Lymphocytes/metabolism ; DNA-Binding Proteins ; Female ; Genomics ; Humans ; Immunotherapy ; Methylation ; Microsatellite Instability ; Middle Aged ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; Mutation ; Transcription Factors
Czasopismo naukowe
Tytuł :
Prognostic Role of Mismatch Repair Status, Histotype and High-Risk Pathologic Features in Stage II Small Bowel Adenocarcinomas.
Autorzy :
Vanoli A; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy. .
Grillo F; Pathology Unit, Department of Surgical and Diagnostic Sciences, University of Genoa and Ospedale Policlinico San Martino University Hospital, Genoa, Italy.
Guerini C; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Neri G; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Arpa G; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Klersy C; Clinical Epidemiology and Biometry Unit, Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Nesi G; Division of Pathological Anatomy, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Giuffrida P; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Sampietro G; Unit of General Surgery, ASST Rhodense, Rho Hospital, University of Milan, Milan, Italy.
Ardizzone S; Gastroenterology Unit, Luigi Sacco University Hospital, Milan, Italy.
Fociani P; Anatomic Pathology Unit, ASST Ovest Milanese, Milan, Italy.
Fiocca R; Pathology Unit, Department of Surgical and Diagnostic Sciences, University of Genoa and Ospedale Policlinico San Martino University Hospital, Genoa, Italy.
Latella G; Gastroenterology Unit, Department of Life and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Sessa F; Pathology Unit, Department of Medicine and Surgery, University of Insubria, Varese, Italy.
D'Errico A; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Malvi D; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Mescoli C; Pathology Unit, Department of Medicine, University of Padua, Padua, Italy.
Rugge M; Pathology Unit, Department of Medicine, University of Padua, Padua, Italy.
Ferrero S; Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
Poggioli G; Surgery of the Alimentary Tract, Department of Medical and Surgical Sciences, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Rizzello F; Intestinal Chronic Bowel Disease Unit, Department of Medical and Surgical Sciences, Sant'Orsola-Malpighi Hospital, Alma Mater Studiorum University of Bologna, Bologna, Italy.
Macciomei MC; Pathology Unit, San Camillo-Forlanini Hospital, Rome, Italy.
Santini D; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Volta U; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
De Giorgio R; Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Caio G; Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Calabrò A; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
Ciacci C; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
D'Armiento M; Public Health Department, Federico II University of Naples, Naples, Italy.
Rizzo A; Unit of Pathology, Cervello Hospital, Palermo, Italy.
Solina G; Units of General Surgery, Cervello Hospital, Palermo, Italy.
Martino M; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Tonelli F; Surgery and Translational Medicine, University of Florence, Florence, Italy.
Villanacci V; Institute of Pathology, Spedali Civili Hospital, Brescia, Italy.
Cannizzaro R; Department of Gastroenterology, Centro di Riferimento Oncologico (CRO) di Aviano IRCCS, Aviano, Italy.
Canzonieri V; Pathology Unit, Centro di Riferimento Oncologico (CRO) di Aviano IRCCS, Aviano, Italy.; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Florena AM; Pathologic Anatomy Unit, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Biancone L; Department of Systems Medicine, University of Tor Vergata, Rome, Italy.
Monteleone G; Department of Systems Medicine, University of Tor Vergata, Rome, Italy.
Caronna R; Department of Surgical Sciences, La Sapienza University, Rome, Italy.
Ciardi A; Department of Radiological, Oncological, Pathological Sciences, Umberto I Hospital, La Sapienza University, Rome, Italy.
Elli L; Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Caprioli F; Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Vecchi M; Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
D'Incà R; Gastroenterology Section, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
Zingone F; Gastroenterology Section, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
D'Odorico A; Gastroenterology Section, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
Lenti MV; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Oreggia B; General Surgery Unit, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
Reggiani Bonetti L; Section of Pathology, Department of Diagnostic Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
Giannone AG; Pathologic Anatomy Unit, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Orlandi A; Department of Biopathology and Image Diagnostics, University of Tor Vergata, Rome, Italy.
Barresi V; Section of Anatomical Pathology, Department of Diagnostics and Public Health, University and Hospital Trust of Verona, Verona, Italy.
Ciccocioppo R; Gastroenterology Unit, Department of Medicine, AOUI Policlinico G.B. Rossi, University of Verona, Verona, Italy.
Amodeo G; Gastroenterology Unit, Department of Medicine, AOUI Policlinico G.B. Rossi, University of Verona, Verona, Italy.
Biletta E; Anatomic Pathology ASL Biella, Biella, Italy.
Luinetti O; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Pedrazzoli P; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.; Oncology Unit, IRCCS San Matteo Hospital, Pavia, Italy.
Pietrabissa A; Department of Surgery, General Surgery II, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Corazza GR; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Solcia E; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Paulli M; Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
Di Sabatino A; Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, Pavia, Italy.
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Źródło :
Annals of surgical oncology [Ann Surg Oncol] 2021 Feb; Vol. 28 (2), pp. 1167-1177. Date of Electronic Publication: 2020 Aug 05.
Typ publikacji :
Journal Article
MeSH Terms :
Adenocarcinoma*/genetics
Colorectal Neoplasms*
DNA Mismatch Repair/genetics ; Female ; Humans ; Male ; Microsatellite Instability ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Prognosis
Czasopismo naukowe
Tytuł :
Correlation of MSH2 exonic deletions and protein downregulation with breast cancer biomarkers and outcome in Pakistani women/patients.
Autorzy :
Malik SS; Department of Zoology, University of Gujrat, Gujrat, Pakistan. .; Microbiology & Biotechnology Research Lab., Fatima Jinnah Women University, The Mall Rawalpindi, Rawalpindi, Punjab, Pakistan. .
Mubarik S; Department of Epidemiology and Biostatistics, School of Health Sciences, Wuhan University, Wuhan, 430071, Hubei, China.
Aftab A; Department of Biological Sciences, International Islamic University, Sector H10, Islamabad, Pakistan.
Khan R; The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, Huangshan Road, Hefei, 230027, Anhui, China.
Masood N; Microbiology & Biotechnology Research Lab., Fatima Jinnah Women University, The Mall Rawalpindi, Rawalpindi, Punjab, Pakistan.
Asif M; Department of Histopathology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
Bano R; Breast Clinic, Combined Military Hospital, Rawalpindi, Pakistan.
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Źródło :
Environmental science and pollution research international [Environ Sci Pollut Res Int] 2021 Jan; Vol. 28 (3), pp. 3066-3077. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article
MeSH Terms :
Biomarkers, Tumor*/genetics
Breast Neoplasms*/genetics
Sequence Deletion*
DNA Mismatch Repair ; Down-Regulation ; Exons ; Female ; Humans ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Pakistan ; Proteomics
Czasopismo naukowe
Tytuł :
Nucleus-specific linker histones Hho1 and Mlh1 form distinct protein interactions during growth, starvation and development in Tetrahymena thermophila.
Autorzy :
Nabeel-Shah S; Department of Chemistry and Biology, Ryerson University, 350 Victoria St., Toronto, M5B 2K3, Canada.; Donnelly Centre, University of Toronto, Toronto, M5S 3E1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, M5S 1A8, Canada.
Ashraf K; Department of Biology, York University, 4700 Keele St., Toronto, M3J 1P3, Canada.
Saettone A; Department of Chemistry and Biology, Ryerson University, 350 Victoria St., Toronto, M5B 2K3, Canada.
Garg J; Department of Biology, York University, 4700 Keele St., Toronto, M3J 1P3, Canada.
Derynck J; Department of Chemistry and Biology, Ryerson University, 350 Victoria St., Toronto, M5B 2K3, Canada.
Lambert JP; Department of Molecular Medicine and Cancer Research Centre, Université Laval, Quebec, Canada.; CHU de Québec Research Center, CHUL, 2705 Laurier Boulevard, Quebec, G1V 4G2, Canada.
Pearlman RE; Department of Biology, York University, 4700 Keele St., Toronto, M3J 1P3, Canada. .
Fillingham J; Department of Chemistry and Biology, Ryerson University, 350 Victoria St., Toronto, M5B 2K3, Canada. .
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Źródło :
Scientific reports [Sci Rep] 2020 Jan 13; Vol. 10 (1), pp. 168. Date of Electronic Publication: 2020 Jan 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Developmental*
High Mobility Group Proteins/*metabolism
Histones/*metabolism
MutL Protein Homolog 1/*metabolism
Proteome/*analysis
Protozoan Proteins/*metabolism
Tetrahymena thermophila/*growth & development
Amino Acid Sequence ; Animals ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; Chromatin/genetics ; Chromatin/metabolism ; Gene Expression Regulation ; High Mobility Group Proteins/genetics ; MutL Protein Homolog 1/genetics ; Protein Interaction Domains and Motifs ; Protozoan Proteins/genetics ; Starvation ; Tetrahymena thermophila/genetics ; Tetrahymena thermophila/metabolism
Czasopismo naukowe
Tytuł :
MLH1 deficiency leads to deregulated mitochondrial metabolism.
Autorzy :
Rashid S; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Freitas MO; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Cucchi D; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Bridge G; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Yao Z; Department of Cell and Developmental Biology, Consortium for Mitochondrial Research, University College London, London, WC1E 6BT, UK.
Gay L; Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Williams M; Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Wang J; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Suraweera N; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, E1 2AT, UK.
Silver A; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London, E1 2AT, UK.
McDonald SAC; Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Chelala C; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Szabadkai G; Department of Cell and Developmental Biology, Consortium for Mitochondrial Research, University College London, London, WC1E 6BT, UK.; Department of Biomedical Sciences, University of Padua, Padua, 35131, Italy.; The Francis Crick Institute, London, NW1 1AT, UK.
Martin SA; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK. .
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Źródło :
Cell death & disease [Cell Death Dis] 2019 Oct 22; Vol. 10 (11), pp. 795. Date of Electronic Publication: 2019 Oct 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mitochondria/*metabolism
MutL Protein Homolog 1/*deficiency
Colorectal Neoplasms/genetics ; Colorectal Neoplasms/metabolism ; Colorectal Neoplasms/pathology ; DNA Mismatch Repair ; Electron Transport Complex I/antagonists & inhibitors ; Electron Transport Complex I/genetics ; Electron Transport Complex I/metabolism ; Endometrial Neoplasms/genetics ; Endometrial Neoplasms/metabolism ; Endometrial Neoplasms/pathology ; Female ; HCT116 Cells ; HT29 Cells ; Humans ; Male ; Mitochondria/genetics ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; Mutation ; Neoplasms/genetics ; Neoplasms/metabolism ; Neoplasms/pathology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Ovarian Neoplasms/pathology ; Rotenone/pharmacology ; Transfection
Czasopismo naukowe
Tytuł :
DNA Organization along Pachytene Chromosome Axes and Its Relationship with Crossover Frequencies.
Autorzy :
Del Priore L; INBIOMED-Instituto de Investigaciones Biomédicas, Universidad de Buenos Aires-CONICET, Facultad de Medicina, Paraguay 2155, C1121ABG Buenos Aires, Argentina.
Pigozzi MI; INBIOMED-Instituto de Investigaciones Biomédicas, Universidad de Buenos Aires-CONICET, Facultad de Medicina, Paraguay 2155, C1121ABG Buenos Aires, Argentina.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Feb 27; Vol. 22 (5). Date of Electronic Publication: 2021 Feb 27.
Typ publikacji :
Journal Article
MeSH Terms :
Crossing Over, Genetic*
Meiosis*
Recombination, Genetic*
Synaptonemal Complex*
Chromosomes, Mammalian/*genetics
DNA/*genetics
Oocytes/*metabolism
Animals ; Chickens ; DNA/chemistry ; Female ; MutL Protein Homolog 1/metabolism ; Oocytes/cytology
Czasopismo naukowe
Tytuł :
Semiquantitative promoter methylation of MLH1 and MSH2 genes and their impact on sperm DNA fragmentation and chromatin condensation in infertile men.
Autorzy :
Hekim N; Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Gunes S; Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.; Department of Multidisciplinary Molecular Medicine, Health Sciences Institute, Ondokuz Mayis University, Samsun, Turkey.
Asci R; Department of Multidisciplinary Molecular Medicine, Health Sciences Institute, Ondokuz Mayis University, Samsun, Turkey.; Department of Urology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Henkel R; Department of Medical Bioscience, University of the Western Cape, Bellville, South Africa.; American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Abur U; Department of Multidisciplinary Molecular Medicine, Health Sciences Institute, Ondokuz Mayis University, Samsun, Turkey.; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Pokaż więcej
Źródło :
Andrologia [Andrologia] 2021 Feb; Vol. 53 (1), pp. e13827. Date of Electronic Publication: 2020 Oct 28.
Typ publikacji :
Journal Article
MeSH Terms :
Chromatin*/genetics
Infertility, Male*/genetics
DNA Fragmentation ; Humans ; Male ; Methylation ; MutL Protein Homolog 1/genetics ; MutS Homolog 2 Protein/genetics ; Sperm Motility ; Spermatozoa
Czasopismo naukowe

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