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Wyświetlanie 1-67 z 67
Tytuł :
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
Autorzy :
Matera, I
Bachetti, T
Puppo, F
Duca, M
Morandi, F
Casiraghi, G.M.
Cilio, M.R.
Hennekam, R.C.M.
Hofstra, R
Schöber, J.G.
Ravazzolo, R.
Ottonello, G
Ceccherini, I
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Temat :
AMC wi-buiten
sense organs
Letter to JMG
Źródło :
Journal of Medical Genetics, 41(5), 373 - 380. BMJ Publishing Group
Journal of medical genetics, 41(5), 373 - 380. BMJ Publishing Group
Opis pliku :
application/pdf
Tytuł :
Assignment 1 of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4--A5 by in situ hybridization.
Autorzy :
Cinti, R.
Fava, M.
Sancandi, M.
Matera, I.
Ravazzolo, R.
Ceccherini, I.
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Temat :
HUMAN gene mapping
GENE amplification
HUMAN genetics
GENE libraries
CLONING
FLUORESCENCE in situ hybridization
Źródło :
Cytogenetics & Cell Genetics; Mar2001, Vol. 92 Issue 3/4, p354-355, 2p
Czasopismo naukowe
Tytuł :
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Autorzy :
Bonora E; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Chakrabarty S; Department of Molecular Genetics, Erasmus MC, Rotterdam, 3000 CA, The Netherlands.
Kellaris G; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
Tsutsumi M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
Bianco F; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Bergamini C; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
Ullah F; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
Isidori F; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Liparulo I; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
Diquigiovanni C; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Masin L; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
Rizzardi N; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
Cratere MG; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, 20132, Italy.
Boschetti E; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Papa V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40123, Italy.
Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, 40139, Italy.
Cenacchi G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40123, Italy.
Casadio R; Biocomputing Group, Department of Biological, Geological, Environmental Sciences, University of Bologna, Bologna, 40126, Italy.
Martelli P; Biocomputing Group, Department of Biological, Geological, Environmental Sciences, University of Bologna, Bologna, 40126, Italy.
Matera I; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Ceccherini I; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Fato R; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
Raiola G; Department of Paediatrics, Pugliese-Ciaccio Hospital, Catanzaro, 88100, Italy.
Arrigo S; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Signa S; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Sementa AR; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Severino M; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Striano P; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Fiorillo C; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Goto T; Laboratory of Molecular Function of Food, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Uji, 611-0011, Japan.
Uchino S; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, 173-8605, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
Oyazato Y; Department of Pediatrics, Kakogawa Central City Hospital, Kakogawa, Hyogo, 675-8611, Japan.
Nakamura H; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Mishra SK; Glycoscience Group, National University of Ireland, Galway, H91 CF50, Ireland.
Yeh YS; Laboratory of Molecular Function of Food, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Uji, 611-0011, Japan.
Kato T; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, 650-0017, Japan.
Tanboon J; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Morioka I; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, 173-8610, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Toda T; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Ohtake A; Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, 350-0495, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Yamaguchi Y; Laboratory of Pharmaceutical Physical Chemistry, Tohoku Medical and Pharmaceutical University, Miyagi, 981-8558, Japan.
Nonaka I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, 650-0017, Japan.
Mimaki M; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, 173-8605, Japan.
Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
Raams A; Department of Molecular Genetics, Erasmus MC, Rotterdam, 3000 CA, The Netherlands.
MacInnes A; Department of Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
Engelen M; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
Linthorst G; Department of Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
de Koning T; Department of Metabolic Diseases, UMCG, Groningen, 9700 RB, The Netherlands.
den Dunnen W; Department of Pathology, UMCG, Groningen, 9700 RB, The Netherlands.
Dijkstra G; Department of Gastroenterology, UMCG, Groningen, 9700 RB, The Netherlands.
van Spaendonck K; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
van Gent DC; Department of Molecular Genetics, Erasmus MC, Rotterdam, 3000 CA, The Netherlands.
Aronica EM; Department of Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
Picco P; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40123, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, 40139, Italy.
Seri M; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
Katsanis N; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
Duijkers FAM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, 1100 DD, The Netherlands.
Taniguchi-Ikeda M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, 650-0017, Japan.; Department of Clinical Genetics, Fujita Health University Hospital, Aichi, 470-1192, Japan.
De Giorgio R; Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, 44124, Italy.
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Źródło :
Brain : a journal of neurology [Brain] 2021 Jun 22; Vol. 144 (5), pp. 1451-1466.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Effect of Quercetin on ABCC6 Transporter: Implication in HepG2 Migration.
Autorzy :
Abruzzese V; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Matera I; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Martinelli F; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Carmosino M; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Koshal P; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Milella L; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Bisaccia F; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Ostuni A; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 08; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Journal Article
MeSH Terms :
Ion Channel Gating/*drug effects
Multidrug Resistance-Associated Proteins/*metabolism
Quercetin/*pharmacology
Actins/metabolism ; Cell Movement/drug effects ; Cell Survival/drug effects ; Drug Resistance, Multiple/drug effects ; Drug Resistance, Neoplasm/drug effects ; Gene Expression Regulation/drug effects ; Hep G2 Cells ; Humans ; Multidrug Resistance-Associated Proteins/genetics ; Protein Multimerization/drug effects ; Reactive Oxygen Species/metabolism ; Signal Transduction/drug effects
Czasopismo naukowe
Tytuł :
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Autorzy :
Matera I; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Bordo D; IRCCS Policlinico San Martino, Genoa, Italy.
Di Duca M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Lerone M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Santamaria G; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Pongiglione M; UOC Radiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Lezo A; Dietetics and Clinical Nutrition Unit, Children's Hospital Regina Margherita, Torino, Italy.
Diamanti A; UOS Nutrizione Artificiale, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Spagnuolo MI; Dip. Scienze Mediche Traslazionali, Università Federico II, Naples, Italy.
Pini Prato A; UO Chirurgia Pediatrica, AON SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy.
Alberti D; UO Chirurgia Pediatrica, ASST- Spedali Civili di Brescia, Brescia, Italy.
Mattioli G; UOC Chirurgia Pediatrica, Milan, Italy.
Gandullia P; UOC Gastroenterologia. IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ceccherini I; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
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Źródło :
Clinical genetics [Clin Genet] 2021 Mar; Vol. 99 (3), pp. 430-436. Date of Electronic Publication: 2020 Dec 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Muscari comosum L. Bulb Extracts Modulate Oxidative Stress and Redox Signaling in HepG2 Cells.
Autorzy :
Giglio F; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Castiglione Morelli MA; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Matera I; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Sinisgalli C; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Rossano R; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
Ostuni A; Department of Sciences, University of Basilicata, 85100 Potenza, Italy.
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Źródło :
Molecules (Basel, Switzerland) [Molecules] 2021 Jan 14; Vol. 26 (2). Date of Electronic Publication: 2021 Jan 14.
Typ publikacji :
Journal Article
MeSH Terms :
Antioxidants/*pharmacology
Asparagaceae/*chemistry
Flavonoids/*pharmacology
Oxidative Stress/*drug effects
Plant Extracts/*pharmacology
Polyphenols/*pharmacology
Cell Proliferation ; Flavonoids/analysis ; Gene Expression Regulation, Neoplastic/drug effects ; Hep G2 Cells ; Humans ; Metabolome/drug effects ; Polyphenols/analysis
Czasopismo naukowe
    Wyświetlanie 1-67 z 67

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