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    Wyświetlanie 1-11 z 11
    Tytuł:
    PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
    Autorzy:
    Gulluni F; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Prever L; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Li H; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Krafcikova P; Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Praha, Czech Republic.
    Corrado I; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Lo WT; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.
    Margaria JP; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Chen A; Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
    De Santis MC; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Cnudde SJ; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Fogerty J; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44106, USA.
    Yuan A; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44106, USA.
    Massarotti A; Dipartimento di Scienze del Farmaco, Università degli Studi del Piemonte Orientale, 'A. Avogadro', Largo Donegani 2, 28100 Novara, Italy.
    Sarijalo NT; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen Nürnberg, Erlangen, Germany.
    Vadas O; Section des Sciences Pharmaceutiques, University of Geneva, 1211 Geneva, Switzerland.; Department of Microbiology and Molecular Medicine, University of Geneva, 1211 Geneva, Switzerland.
    Williams RL; Medical Research Council (MRC) Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge CB2 0QH, UK.
    Thelen M; Institute for Research in Biomedicine, Università della Svizzera Italiana, Bellinzona, Switzerland.
    Powell DR; Pharmaceutical Biology, Lexicon Pharmaceuticals, The Woodlands, TX 77381, USA.
    Schueler M; Division of Nephrology and Internal Intensive Care Medicine, Charite University, Berlin, Germany.
    Wiesener MS; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen Nürnberg, Erlangen, Germany.
    Balla T; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, MD 20892, USA.
    Baris HN; Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa 30196, Israel.; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 30196, Israel.
    Tiosano D; Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa 30196, Israel.; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 30196, Israel.
    McDermott BM Jr; Department of Otolaryngology-Head and Neck Surgery, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.; Freie Universität Berlin, Faculty of Biology, Chemistry and Pharmacy, 14195 Berlin, Germany.
    Perkins BD; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44106, USA.
    Ghigo A; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Martini M; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.; Freie Universität Berlin, Faculty of Biology, Chemistry and Pharmacy, 14195 Berlin, Germany.
    Boura E; Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Praha, Czech Republic.
    Merlo GR; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
    Buchner DA; Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
    Hirsch E; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin 10126, Italy.
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    Źródło:
    Science (New York, N.Y.) [Science] 2021 Dec 10; Vol. 374 (6573), pp. eabk0410. Date of Electronic Publication: 2021 Dec 10.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Cellular Senescence*
    Cytokinesis*
    Cataract/*pathology
    Endosomal Sorting Complexes Required for Transport/*metabolism
    Lens, Crystalline/*cytology
    Phosphatidylinositol 3-Kinases/*metabolism
    Phosphatidylinositols/*metabolism
    Aging, Premature ; Animals ; Biological Evolution ; Calcium-Binding Proteins/metabolism ; Cataract/metabolism ; Cell Cycle Proteins/metabolism ; Cell Line ; Humans ; Lens, Crystalline/growth & development ; Lens, Crystalline/metabolism ; Mice ; Mutation ; Phosphatidylinositol 3-Kinases/genetics ; Phosphatidylinositol 4,5-Diphosphate/metabolism ; Tubulin/metabolism ; Zebrafish ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.
    Autorzy:
    Erger F; Cologne Center for Genomics, University of Cologne, Cologne, Germany. .; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. .; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. .
    Nörling D; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
    Borchert D; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
    Leenen E; Department of Nephrology, Transplantation and Medical Intensive Care, University Witten/Herdecke, Medical Center Cologne-Merheim, Cologne, Germany.
    Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
    Wiesener MS; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Bartram MP; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
    Wenzel A; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
    Becker C; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
    Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
    Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
    Beck BB; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
    Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany. .; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. .
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    Źródło:
    Genome medicine [Genome Med] 2020 Jun 24; Vol. 12 (1), pp. 54. Date of Electronic Publication: 2020 Jun 24.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Biological Assay*
    Cell-Free Nucleic Acids*
    Epigenesis, Genetic*
    Epigenomics/*methods
    DNA Methylation ; Humans ; Kidney Diseases/genetics ; Polymorphism, Single Nucleotide
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
    Autorzy:
    Tiosano D; Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa, Israel.; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
    Baris HN; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
    Chen A; Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United States of America.
    Hitzert MM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    Schueler M; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Gulluni F; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy.
    Wiesener A; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Bergua A; Department of Ophthalmology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Mory A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
    Copeland B; Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America.
    Gleeson JG; Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America.; Department of Neurosciences, University of California, San Diego, La Jolla, California, United States of America.
    Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    van Meer H; Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
    Sival DA; Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
    Haucke V; Leibniz-Institut für Molekulare Pharmakologie, Berlin Faculty of Biology, Chemistry, and Pharmacy, Freie Universität Berlin, Berlin, Germany.
    Kriwinsky J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America.
    Knaup KX; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Reis A; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Hauer NN; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Hirsch E; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy.
    Roepman R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
    Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
    Thiel CT; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Wiesener MS; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Aslanyan MG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
    Buchner DA; Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America.; Research Institute for Children's Health, Case Western Reserve University, Cleveland, Ohio, United States of America.
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    Źródło:
    PLoS genetics [PLoS Genet] 2019 Apr 29; Vol. 15 (4), pp. e1008088. Date of Electronic Publication: 2019 Apr 29 (Print Publication: 2019).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Bone Diseases, Developmental/*genetics
    Cataract/*genetics
    Ciliary Motility Disorders/*genetics
    Dwarfism/*genetics
    Phosphatidylinositol 3-Kinases/*genetics
    Adolescent ; Adult ; Child ; Consanguinity ; Female ; Fibroblasts/metabolism ; Humans ; Male ; Pedigree ; Phenotype ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
    Autorzy:
    Connor TM; Oxford Kidney Unit, Churchill Hospital, Oxford, United Kingdom.
    Hoer S; Cambridge Institute for Medical Research, University of Cambridge, United Kingdom.
    Mallett A; Kidney Health Service, Royal Brisbane and Women's Hospital, School of Medicine, The University of Queensland, Australia.
    Gale DP; UCL Centre for Nephrology, Royal Free Hospital, London, United Kingdom.
    Gomez-Duran A; MRC-Mitochondrial Biology Unit, University of Cambridge, United Kingdom.
    Posse V; Institute of Biomedicine, University of Gothenburg, Sweden.
    Antrobus R; Cambridge Institute for Medical Research, University of Cambridge, United Kingdom.
    Moreno P; Cambridge Institute for Medical Research, University of Cambridge, United Kingdom.
    Sciacovelli M; MRC Cancer Unit, University of Cambridge, United Kingdom.
    Frezza C; MRC Cancer Unit, University of Cambridge, United Kingdom.
    Duff J; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
    Sheerin NS; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
    Sayer JA; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
    Ashcroft M; Department of Medicine, University of Cambridge, United Kingdom.
    Wiesener MS; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Hudson G; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
    Gustafsson CM; Institute of Biomedicine, University of Gothenburg, Sweden.
    Chinnery PF; MRC-Mitochondrial Biology Unit, University of Cambridge, United Kingdom.
    Maxwell PH; School of Clinical Medicine, Cambridge University, Cambridge, United Kingdom.
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    Źródło:
    PLoS genetics [PLoS Genet] 2017 Mar 07; Vol. 13 (3), pp. e1006620. Date of Electronic Publication: 2017 Mar 07 (Print Publication: 2017).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    DNA, Mitochondrial/*genetics
    Kidney Diseases/*genetics
    Kidney Tubules/*pathology
    Acetylglucosaminidase/urine ; Biopsy ; Female ; Fibroblasts/metabolism ; Genetic Linkage ; Humans ; Leucine/chemistry ; Male ; Mitochondria/metabolism ; Oxygen Consumption ; Pedigree ; Phenotype ; Phenylalanine/chemistry ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Quadriceps Muscle/pathology ; RNA, Transfer/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Depression, Anxiety, Resilience and Coping Pre and Post Kidney Transplantation - Initial Findings from the Psychiatric Impairments in Kidney Transplantation (PI-KT)-Study.
    Autorzy:
    Müller HH; Department of Psychiatry and Psychotherapy, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Englbrecht M; Department of Internal Medicine 3-Rheumatology and Immunology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Wiesener MS; Department of Internal Medicine 4-Nephrology and Hypertension, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Titze S; Department of Internal Medicine 4-Nephrology and Hypertension, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Heller K; Department of Internal Medicine 4-Nephrology and Hypertension, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Groemer TW; Department of Psychiatry and Psychotherapy, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Schett G; Department of Internal Medicine 3-Rheumatology and Immunology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Eckardt KU; Department of Internal Medicine 4-Nephrology and Hypertension, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Kornhuber J; Department of Psychiatry and Psychotherapy, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
    Maler JM; Department of Psychiatry and Psychotherapy, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
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    Źródło:
    PloS one [PLoS One] 2015 Nov 11; Vol. 10 (11), pp. e0140706. Date of Electronic Publication: 2015 Nov 11 (Print Publication: 2015).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Adaptation, Psychological*
    Resilience, Psychological*
    Anxiety/*psychology
    Depression/*psychology
    Kidney Transplantation/*psychology
    Adult ; Aged ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Identification of novel VHL targets that are associated with the development of renal cell carcinoma.
    Autorzy:
    Abdulrahman M; Department of Medical and Molecular Genetics, University of Birmingham, The Medical School, Birmingham, UK.
    Maina EN
    Morris MR
    Zatyka M
    Raval RR
    Banks RE
    Wiesener MS
    Richards FM
    Johnson CM
    Latif F
    Maher ER
    Pokaż więcej
    Źródło:
    Oncogene [Oncogene] 2007 Mar 08; Vol. 26 (11), pp. 1661-72. Date of Electronic Publication: 2006 Sep 25.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Carcinoma, Renal Cell/*genetics
    Kidney Neoplasms/*genetics
    Von Hippel-Lindau Tumor Suppressor Protein/*genetics
    Base Sequence ; Blotting, Western ; Cell Line ; DNA Primers ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Reverse Transcriptase Polymerase Chain Reaction
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-11 z 11

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