Further characterization of factor VIII-deficient mice created by gene targeting: RNA and protein studies

Autor: Bi L, Sarkar R, Thierry Naas, Am, Lawler, Pain J, Sl, Shumaker, Bedian V, Hh, Kazazian

Publikováno v: Europe PubMed Central

Previously we created two strains of factor VIII-deficient mice by insertion of a neo gene into (1) the 3′ end of exon 16 and (2) exon 17 of the factor VIII gene. Affected mice of both strains have no plasma factor VIII activity, yet are healthy wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74cb80993cde86aea7ec7a2a89ba6560
https://doi.org/10.1182/blood.v88.9.3446.bloodjournal8893446

Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia

Autor: HH Kazazian, Rona Singer Weinberg, Blanche P. Alter, Stuart H. Orkin, AL Lenes, George J. Dover, SE Antonarakis, J M Schofield

Publikováno v: Blood. 63:1278-1284

To determine whether hemoglobin regulation is normal in diseases affecting beta-globin gene expression, globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/beta o-thalassemia (HPFH/beta o-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da13c7f2f6ba462cb4b635ea87484810
https://doi.org/10.1182/blood.v63.6.1278.1278

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

Autor: Se, Antonarakis, Jp, Rossiter, Young M, Horst J, de Moerloose P, Ss, Sommer, Rp, Ketterling, Hh, Kazazian, Négrier C, Vinciguerra C, Gitschier J, Inaba H

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3f5c3e8c5a0f136ad0a6a5bdc842f4b2
http://europepmc.org/abstract/med/7662970

Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.

Autor: Rodriguez-Martin B; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Alvarez EG; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Baez-Ortega A; Transmissible Cancer Group, Department of Veterinary Medicine, University of Cambridge, Cambridge, UK., Zamora J; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo, Spain.; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Supek F; Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Demeulemeester J; The Francis Crick Institute, London, UK.; Department of Human Genetics, University of Leuven, Leuven, Belgium., Santamarina M; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Ju YS; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK., Temes J; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Garcia-Souto D; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Detering H; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.; Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain.; Galicia Sur Health Research Institute, Vigo, Spain., Li Y; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Rodriguez-Castro J; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Dueso-Barroso A; Faculty of Science and Technology, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.; Barcelona Supercomputing Center (BSC), Barcelona, Spain., Bruzos AL; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain.; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Dentro SC; The Francis Crick Institute, London, UK.; Experimental Cancer Genetics, Wellcome Sanger Institute, Cambridge, UK.; Oxford Big Data Institute, University of Oxford, Oxford, UK., Blanco MG; DNA Repair and Genome Integrity, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Department of Biochemistry and Molecular Biology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Contino G; Medical Research Council (MRC) Cancer Unit, University of Cambridge, Cambridge, UK., Ardeljan D; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA., Tojo M; The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo, Spain.; Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain., Roberts ND; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Zumalave S; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Edwards PA; University of Cambridge, Cambridge, UK.; Li Ka Shing Centre, Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK., Weischenfeldt J; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Finsen Laboratory and Biotech Research & Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.; Department of Urology, Charité Universitätsmedizin Berlin, Berlin, Germany., Puiggròs M; Barcelona Supercomputing Center (BSC), Barcelona, Spain., Chong Z; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Genetics and Informatics Institute, University of Alabama at Birmingham (UAB) School of Medicine, Birmingham, AL, USA., Chen K; University of Texas MD Anderson Cancer Center, Houston, TX, USA., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wala JA; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Raine KM; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK., Butler A; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK., Waszak SM; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Navarro FCP; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Department of Computer Science, Yale University, New Haven, CT, USA., Schumacher SE; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA., Monlong J; Department of Human Genetics, McGill University, Montreal, Québec, Canada., Maura F; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.; Department of Oncology and Onco-Hematology, University of Milan, Milan, Italy.; Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Bolli N; Department of Oncology and Onco-Hematology, University of Milan, Milan, Italy.; Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Bourque G; Canadian Center for Computational Genomics, McGill University, Montreal, Quebec, Canada., Gerstein M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.; Department of Computer Science, Yale University, New Haven, CT, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Ludwig Center at Harvard, Boston, MA, USA., Wedge DC; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK.; Experimental Cancer Genetics, Wellcome Sanger Institute, Cambridge, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Beroukhim R; The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Torrents D; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Barcelona Supercomputing Center (BSC), Barcelona, Spain., Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK., Martincorena I; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Fitzgerald RC; Medical Research Council (MRC) Cancer Unit, University of Cambridge, Cambridge, UK., Van Loo P; The Francis Crick Institute, London, UK.; Department of Human Genetics, University of Leuven, Leuven, Belgium., Kazazian HH; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA., Burns KH; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Baltimore, MD, USA.; McKusick-Nathans Institute of Genetic Medicine, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine, Baltimore, MD, USA., Campbell PJ; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK. pc8@sanger.ac.uk.; Department of Haematology, University of Cambridge, Cambridge, UK. pc8@sanger.ac.uk., Tubio JMC; Department of Zoology, Genetics and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain. jose.mc.tubio@usc.es.; Biomedical Research Centre (CINBIO), University of Vigo, Vigo, Spain. jose.mc.tubio@usc.es.; Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. jose.mc.tubio@usc.es.; Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Cambridge, UK. jose.mc.tubio@usc.es.

Publikováno v: Nature genetics [Nat Genet] 2023 Jun; Vol. 55 (6), pp. 1080.

A Long, Fulfilling Career in Human Genetics.

Autor: Kazazian HH Jr; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA; email: hkazazi1@jhmi.edu.

Publikováno v: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2021 Aug 31; Vol. 22, pp. 27-53. Date of Electronic Publication: 2021 May 04.