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    Tytuł:
    Eating disorders in adolescent boys: a review of the adolescent and young adult literature.
    Autorzy:
    Muise AM
    Stein DG
    Arbess G
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    Źródło:
    Journal of Adolescent Health; Dec2003, Vol. 33 Issue 6, p427-435, 9p
    Czasopismo naukowe
    Szczegóły
    Tytuł:
    Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
    Autorzy:
    Dirvanskyte P; Translational Gastroenterology Unit and Biomedical Research Centre, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
    Gurram B; Department of Pediatrics, UT Southwestern Medical Center, Dallas TX, USA.
    Bolton C; Institute of Child Health, University College London, London, UK.; Paediatric Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
    Warner N; SickKids Inflammatory Bowel Disease Centre, Hospital for Sick Children, Toronto, ON, Canada.
    Jones KDJ; Paediatric Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.
    Griffin HR; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
    Park JY; Department of Pathology and the Eugene McDermott Center for Human Growth and Development. UT Southwestern Medical Center, Dallas, TX, USA.
    Keller KM; German Clinic for Diagnostics [DKD], Helios Klinik, Wiesbaden, Germany.
    Gilmour KC; Laboratory of Immunology and Cellular Therapy, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
    Hambleton S; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
    Muise AM; SickKids Inflammatory Bowel Disease Centre, Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.; Cell Biology Program, Sick Kids Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
    Wysocki C; Department of Pediatrics, and Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.
    Uhlig HH; Translational Gastroenterology Unit and Biomedical Research Centre, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.; Biomedical Research Centre, University of Oxford, Oxford, UK.; Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
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    Corporate Authors:
    Genomics England Research Consortium
    Źródło:
    Journal of Crohn's & colitis [J Crohns Colitis] 2023 Jan 27; Vol. 17 (1), pp. 49-60.
    Typ publikacji:
    Systematic Review; Meta-Analysis; Journal Article
    MeSH Terms:
    Turner Syndrome*/complications
    Inflammatory Bowel Diseases*/genetics
    Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Inflammation/complications
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
    Autorzy:
    Collen LV; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Kim DY; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Field M; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Okoroafor I; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Saccocia G; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Whitcomb SD; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Green J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Dong MD; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Barends J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Carey B; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Weatherly ME; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Rockowitz S; Manton centre for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
    Sliz P; Manton centre for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA.
    Liu E; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Institutional centres for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.
    Eran A; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Department of Biomedical Informatics, Boston, MA, USA.; Department of Life Sciences and Zlotowski centre for Neuroscience, Ben Gurion University of the Negev, Beer-Sheva, Israel.
    Grushkin-Lerner L; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Bousvaros A; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Muise AM; SickKids Inflammatory Bowel Disease centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
    Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, and Gene centre, Ludwig Maximilians Universität München, München,Germany.
    Mitsialis V; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA.
    Ouahed J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Snapper SB; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA.
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    Corporate Authors:
    Regeneron Genetics centre
    Źródło:
    Journal of Crohn's & colitis [J Crohns Colitis] 2022 Sep 08; Vol. 16 (9), pp. 1380-1396.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Crohn Disease*/diagnosis
    Crohn Disease*/genetics
    Crohn Disease*/therapy
    Inflammatory Bowel Diseases*/diagnosis
    Inflammatory Bowel Diseases*/genetics
    Inflammatory Bowel Diseases*/therapy
    Age of Onset ; Humans ; Intestines ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.
    Autorzy:
    Ghalandary M; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Li Y; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Fröhlich T; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Munich, Germany.
    Magg T; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Liu Y; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Rohlfs M; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Hollizeck S; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Conca R; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Schwerd T; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Uhlig HH; Translational Gastroenterology Unit and Department of Pediatrics, and Biomedical Research Centre, University of Oxford, Oxford, UK.
    Bufler P; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin, Germany.
    Koletzko S; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.; Department of Pediatrics, School of Medicine Collegium, Medicum University of Warmia and Mazury, Olsztyn, Poland.
    Muise AM; SickKids Inflammatory Bowel Disease Center, Research Institute, Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.; VEO-IBD Consortium, University Hospital, LMU Munich, 80337, Munich, Germany.; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, M5G1A8, Canada.
    Snapper SB; VEO-IBD Consortium, University Hospital, LMU Munich, 80337, Munich, Germany.; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, 02115, USA.
    Hauck F; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.
    Klein C; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany.; VEO-IBD Consortium, University Hospital, LMU Munich, 80337, Munich, Germany.; Gene Center, LMU Munich, Munich, Germany.; Deutsche Zentrum für Infektionsforschung (DZIF), Inhoffenstraße 7, 38124 Braunschweig, Germany.
    Kotlarz D; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337, Munich, Germany. .; VEO-IBD Consortium, University Hospital, LMU Munich, 80337, Munich, Germany. .
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    Źródło:
    Scientific reports [Sci Rep] 2022 Mar 10; Vol. 12 (1), pp. 3906. Date of Electronic Publication: 2022 Mar 10.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Endoplasmic Reticulum Stress*
    Interleukin-8*/metabolism
    Acetylmuramyl-Alanyl-Isoglutamine/pharmacology ; Humans ; Nod2 Signaling Adaptor Protein/genetics ; Nod2 Signaling Adaptor Protein/metabolism ; Valosin Containing Protein/genetics ; Valosin Containing Protein/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
    Autorzy:
    Ouahed J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
    Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Spessott WA; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
    Kooshesh K; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Sanmillan ML; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
    Dawany N; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
    Sullivan KE; Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Hamilton KE; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Slowik V; Department of Medicine, Division of Gastroenterology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Nejentsev S; Division of Gastroenterology, Hepatology, and Nutrition, Children's Mercy Kansas City, Kansas City, MO, 64108, USA.; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, UK.
    Neves JF; Department of Molecular Cell Biology and Immunology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Primary Immunodeficiencies Unit; Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
    Flores H; CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, 1150, Portugal.
    Chung WK; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
    Wilson A; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
    Anyane-Yeboa K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
    Wou K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal.
    Jain P; Department of Pediatrics, Columbia University Medical Center, New York, NY, 10032, USA.; Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
    Field M; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
    Tollefson S; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
    Dent MH; Department of Genetics, Yale University, New Haven, CT, 06510, USA.
    Li D; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
    Naito T; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
    McGovern DPB; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA.
    Kwong AC; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
    Taliaferro F; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
    Ordovas-Montanes J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Program in Immunology, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Stem Cell Institute, Cambridge, MA, 02138, USA.
    Horwitz BH; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Division of Emergency Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.
    Kotlarz D; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany.
    Klein C; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany.
    Evans J; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
    Dorsey J; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
    Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
    Elkadri A; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
    Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
    Goldsmith J; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
    Thompson B; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.
    Engelhardt KR; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.
    Cant AJ; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE1 4LP, UK.
    Hambleton S; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE1 4LP, UK.
    Barclay A; Department of Paediatric Gastroenterology, Royal Hospital for Children, Glasgow, G51 4TF, UK.
    Toth-Petroczy A; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.; Center for Systems Biology Dresden, Dresden, Germany.
    Vuzman D; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Carmichael N; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Bodea C; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Cassa CA; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Devoto M; Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Translational and Precision Medicine, University Sapienza, Rome 00185, Italy.; CNR-IRGB, Cagliari 09042, Italy.
    Maas RL; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
    Behrens EM; Division of Rheumatology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Giraudo CG; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
    Snapper SB; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
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    Źródło:
    Journal of Crohn's & colitis [J Crohns Colitis] 2021 Nov 08; Vol. 15 (11), pp. 1908-1919.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Hearing Loss, Sensorineural/*genetics
    Immune System Diseases/*genetics
    Inflammatory Bowel Diseases/*genetics
    Qa-SNARE Proteins/*analysis
    Age of Onset ; Female ; Genetic Variation/genetics ; Hearing Loss, Sensorineural/epidemiology ; Humans ; Immune System Diseases/epidemiology ; Infant, Newborn ; Inflammatory Bowel Diseases/epidemiology ; Male ; Qa-SNARE Proteins/genetics ; Exome Sequencing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
    Autorzy:
    Bosa L; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
    Batura V; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Colavito D; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, 35127, Padua, Italy.
    Fiedler K; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Gaio P; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
    Guo C; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Li Q; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128, Padua, Italy.; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, 35127, Padua, Italy.
    Mescoli C; Department of Medicine, Padova University Hospital, 35128, Padua, Italy.
    Nambu R; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Division of Gastroenterology and Hepatology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama, Saitama, 330-8777, Japan.
    Pan J; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Perilongo G; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
    Warner N; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Zhang S; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Kotlarz D; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
    Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
    Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, USA.
    Walters TD; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.
    Leon A; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, 35127, Padua, Italy.
    Griffiths AM; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.
    Cananzi M; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
    Muise AM; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada. aleixo.muise@utoronto.ca.; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada. aleixo.muise@utoronto.ca.; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada. aleixo.muise@utoronto.ca.
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    Źródło:
    Scientific reports [Sci Rep] 2021 Mar 15; Vol. 11 (1), pp. 5945. Date of Electronic Publication: 2021 Mar 15.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Predisposition to Disease*
    Loss of Function Mutation*
    Inflammatory Bowel Diseases/*etiology
    Microfilament Proteins/*genetics
    Age Factors ; Alleles ; Child ; Child, Preschool ; Colonoscopy ; Consanguinity ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genotype ; Humans ; Immunohistochemistry ; Inflammatory Bowel Diseases/diagnostic imaging ; Inflammatory Bowel Diseases/metabolism ; Inflammatory Bowel Diseases/pathology ; Male ; Pedigree
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
    Autorzy:
    Horowitz JE; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Warner N; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Staples J; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Crowley E; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; London Health Sciences Centre, Western University, London, ON, Canada.
    Gosalia N; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Murchie R; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Van Hout C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Fiedler K; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Welch G; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    King AK; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Reid JG; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Shuldiner AR; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Griffiths A; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Gottesman O; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA.
    Muise AM; SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada. aleixo.muise@utoronto.ca.; Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada. aleixo.muise@utoronto.ca.; Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, ON, Canada. aleixo.muise@utoronto.ca.
    Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Saw Mill River Rd, Tarrytown, NY, USA. .
    Pokaż więcej
    Źródło:
    Scientific reports [Sci Rep] 2021 Mar 10; Vol. 11 (1), pp. 5595. Date of Electronic Publication: 2021 Mar 10.
    Typ publikacji:
    Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Colitis, Ulcerative/*genetics
    Crohn Disease/*genetics
    Nod2 Signaling Adaptor Protein/*genetics
    Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Colitis, Ulcerative/metabolism ; Crohn Disease/metabolism ; Female ; Humans ; Infant ; Infant, Newborn ; Male
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
    Autorzy:
    Dhingani N; Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Guo C; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Pan J; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Li Q; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Warner N; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Jardine S; Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Leung G; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Kotlarz D; Department of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
    Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
    Klein C; Department of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
    Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, USA.
    Navas-López VM; Pediatric Gastroenterology and Nutrition Unit, IBIMA, Hospital Regional Universitario de Málaga, Málaga, Spain. .
    Muise AM; Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. aleixo.muise@utoronto.ca.; SickKids Inflammatory Bowel Disease Centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada. aleixo.muise@utoronto.ca.; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. aleixo.muise@utoronto.ca.; Department of Pediatrics, Institute of Medical Science, University of Toronto, Toronto, Canada. aleixo.muise@utoronto.ca.
    Pokaż więcej
    Źródło:
    Scientific reports [Sci Rep] 2020 Oct 29; Vol. 10 (1), pp. 18648. Date of Electronic Publication: 2020 Oct 29.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Inflammatory Bowel Diseases/*metabolism
    Proteins/*metabolism
    Ubiquitin-Protein Ligases/*metabolism
    Age of Onset ; Amino Acid Sequence ; Child, Preschool ; Humans ; Male ; Protein Binding ; Sequence Homology, Amino Acid ; Signal Transduction
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Phenotypic Variation in Paediatric Inflammatory Bowel Disease by Age: A Multicentre Prospective Inception Cohort Study of the Canadian Children IBD Network.
    Autorzy:
    Dhaliwal J; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Walters TD; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Mack DR; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
    Huynh HQ; Stollery Children's Hospital, University of Alberta, Edmonton, AB, Canada.
    Jacobson K; B.C. Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
    Otley AR; IWK Health Centre, Dalhousie University, Halifax, NS, Canada.
    Debruyn J; Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada.
    El-Matary W; Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.
    Deslandres C; CHU Sainte-Justine, Universite de Montreal, Montreal, QC, Canada.
    Sherlock ME; McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada.
    Critch JN; Janeway Children's Health and Rehabilitation Centre, Memorial University, St John's, NL, Canada.
    Bax K; Children's Hospital of Western Ontario, University of Western Ontario, London, ON, Canada.
    Seidman E; Montreal Children's Hospital, McGill University Faculty of Medicine, Montreal, QC, Canada.
    Jantchou P; CHU Sainte-Justine, Universite de Montreal, Montreal, QC, Canada.
    Ricciuto A; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Rashid M; IWK Health Centre, Dalhousie University, Halifax, NS, Canada.
    Muise AM; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Wine E; Stollery Children's Hospital, University of Alberta, Edmonton, AB, Canada.
    Carroll M; Stollery Children's Hospital, University of Alberta, Edmonton, AB, Canada.
    Lawrence S; B.C. Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
    Van Limbergen J; IWK Health Centre, Dalhousie University, Halifax, NS, Canada.
    Benchimol EI; Montreal Children's Hospital, McGill University Faculty of Medicine, Montreal, QC, Canada.
    Church P; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Griffiths AM; SickKids Hospital, University of Toronto, Toronto, ON, Canada.
    Pokaż więcej
    Źródło:
    Journal of Crohn's & colitis [J Crohns Colitis] 2020 May 21; Vol. 14 (4), pp. 445-454.
    Typ publikacji:
    Journal Article; Multicenter Study
    MeSH Terms:
    Colitis, Ulcerative*/diagnosis
    Colitis, Ulcerative*/epidemiology
    Colitis, Ulcerative*/physiopathology
    Crohn Disease*/diagnosis
    Crohn Disease*/epidemiology
    Crohn Disease*/physiopathology
    Age of Onset ; Biological Variation, Population ; Canada/epidemiology ; Child ; Cohort Studies ; Disease Progression ; Female ; Humans ; Incidence ; Male ; Prospective Studies ; Severity of Illness Index
    SCR Disease Name:
    Pediatric Crohn's disease; Pediatric ulcerative colitis
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Palmitoylation of NOD1 and NOD2 is required for bacterial sensing.
    Autorzy:
    Lu Y; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.; Keenan Research Centre for Biomedical Sciences, St. Michael's Hospital, Toronto, ON, Canada.
    Zheng Y; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Coyaud É; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
    Zhang C; Department of Anatomy, School of Medicine, Zhejiang University, China School of Medicine, Zhejiang University, Hangzhou 310058, China.; Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
    Selvabaskaran A; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
    Yu Y; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Xu Z; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Weng X; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Chen JS; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Meng Y; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
    Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Cheng X; Department of Biochemistry, and Department of Cardiology of Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310058, China.
    Liu Y; Department of Pathology, School of Medicine, Zhejiang University, Hangzhou 310058, China.
    Yao B; Department of Pharmacology and Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital, Institute of Respiratory Diseases, Zhejiang University School of Medicine, Hangzhou 310009, China.
    Hu H; Department of Pathology, School of Medicine, Zhejiang University, Hangzhou 310058, China.
    Xia Z; Translational Medicine Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
    Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
    Klip A; Cell Biology Program, Research Institute, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning (PGCRL), Toronto, ON, Canada.
    Brumell JH; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics and Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
    Girardin SE; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
    Ying S; Department of Pharmacology and Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital, Institute of Respiratory Diseases, Zhejiang University School of Medicine, Hangzhou 310009, China.
    Fairn GD; Keenan Research Centre for Biomedical Sciences, St. Michael's Hospital, Toronto, ON, Canada. .
    Raught B; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada. .; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada.
    Sun Q; Department of Biochemistry, and Department of Cardiology of Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310058, China. .
    Neculai D; Department of Cell Biology, and Department of Pathology Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. .
    Pokaż więcej
    Źródło:
    Science (New York, N.Y.) [Science] 2019 Oct 25; Vol. 366 (6464), pp. 460-467. Date of Electronic Publication: 2019 Oct 24.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Lipoylation*
    Signal Transduction*
    Acyltransferases/*metabolism
    Nod1 Signaling Adaptor Protein/*chemistry
    Nod2 Signaling Adaptor Protein/*chemistry
    Animals ; Cysteine/chemistry ; HCT116 Cells ; HEK293 Cells ; Humans ; Macrophages/immunology ; Macrophages/microbiology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Peptidoglycan ; Phagosomes/immunology ; Phagosomes/microbiology ; Protein Processing, Post-Translational ; RAW 264.7 Cells ; Salmonella typhimurium
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Very Early Onset IBD: How Very Different 'on Average'?
    Autorzy:
    Turner D; Juliet Keidan Institute of Pediatric Gastroenterology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
    Muise AM; Division of Gastroenterology, Hepatology, and Nutrition, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.
    Pokaż więcej
    Źródło:
    Journal of Crohn's & colitis [J Crohns Colitis] 2017 May 01; Vol. 11 (5), pp. 517-518.
    Typ publikacji:
    Editorial
    MeSH Terms:
    Phenotype*
    Inflammatory Bowel Diseases/*classification
    Inflammatory Bowel Diseases/*etiology
    Adolescent ; Age of Onset ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn
    Opinia redakcyjna
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Unrelated donor hematopoietic stem cell transplantation for infantile enteropathy due to IL-10/IL-10 receptor defect.
    Autorzy:
    Gassas A; Division of Hematology/Oncology/BMT, Hospital for Sick Children, University of Toronto, Ontario, Canada.
    Courtney S
    Armstrong C
    Kapllani E
    Muise AM
    Schechter T
    Pokaż więcej
    Źródło:
    Pediatric transplantation [Pediatr Transplant] 2015 Jun; Vol. 19 (4), pp. E101-3. Date of Electronic Publication: 2015 Mar 12.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Mutation*
    Hematopoietic Stem Cell Transplantation/*methods
    Interleukin-10/*genetics
    Intestinal Diseases/*immunology
    Receptors, Interleukin-10/*genetics
    DNA Mutational Analysis ; Family Health ; Female ; Humans ; Immunosuppressive Agents/therapeutic use ; Infant ; International Cooperation ; Intestinal Diseases/genetics ; Registries ; Tissue and Organ Procurement/standards ; Transplantation Conditioning ; Transplantation, Homologous ; Unrelated Donors
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Listeria monocytogenes exploits efferocytosis to promote cell-to-cell spread.
    Autorzy:
    Czuczman MA; 1] Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada [2] Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S1A8, Canada.
    Fattouh R; Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada.
    van Rijn JM; Department of Cell Biology and Institute of Biomembranes, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
    Canadien V; Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada.
    Osborne S; Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada.
    Muise AM; 1] Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada [2] Division of Gastroenterology, Hepatology, and Nutrition, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada [3] Institute of Medical Science, University of Toronto, Toronto, Ontario M5S1A8, Canada [4] Sickkids IBD Centre, Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada.
    Kuchroo VK; Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
    Higgins DE; Department of Microbiology and Immunobiology, Harvard Medical School, Boston, Massachusetts 02115, USA.
    Brumell JH; 1] Cell Biology Program, Hospital for Sick Children, Toronto, Ontario M5G0A4, Canada [2] Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S1A8, Canada [3] Institute of Medical Science, University of Toronto, Toronto, Ontario M5S1A8, Canada [4] Sickkids IBD Centre, Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada.
    Pokaż więcej
    Źródło:
    Nature [Nature] 2014 May 08; Vol. 509 (7499), pp. 230-4. Date of Electronic Publication: 2014 Apr 13.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Phagocytosis*
    Cell Surface Extensions/*microbiology
    Listeria monocytogenes/*physiology
    Actins/metabolism ; Animals ; Bacterial Toxins/metabolism ; Cell Membrane/metabolism ; Cell Membrane/microbiology ; Cell Membrane/pathology ; Cell Surface Extensions/metabolism ; Cytoplasm/metabolism ; Cytoplasm/microbiology ; Female ; HeLa Cells ; Heat-Shock Proteins/metabolism ; Hemolysin Proteins/metabolism ; Humans ; Listeria monocytogenes/pathogenicity ; Macrophages/cytology ; Macrophages/metabolism ; Macrophages/microbiology ; Membrane Proteins/metabolism ; Mice ; Phagosomes/metabolism ; Phagosomes/microbiology ; Phosphatidylserines/metabolism ; Type C Phospholipases/metabolism ; Vacuoles/metabolism ; Vacuoles/microbiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Association between a multi-locus genetic risk score and inflammatory bowel disease.
    Autorzy:
    Hu P; The Centre for Applied Genomics, The Hospital for Sick Children, 101 College Street, Toronto, ON, Canada.
    Muise AM
    Xing X
    Brumell JH
    Silverberg MS
    Xu W
    Pokaż więcej
    Źródło:
    Bioinformatics and biology insights [Bioinform Biol Insights] 2013 May 19; Vol. 7, pp. 143-52. Date of Electronic Publication: 2013 May 19 (Print Publication: 2013).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Rac2-deficiency leads to exacerbated and protracted colitis in response to Citrobacter rodentium infection.
    Autorzy:
    Fattouh R; Cell Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada.
    Guo CH
    Lam GY
    Gareau MG
    Ngan BY
    Glogauer M
    Muise AM
    Brumell JH
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2013 Apr 16; Vol. 8 (4), pp. e61629. Date of Electronic Publication: 2013 Apr 16 (Print Publication: 2013).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Citrobacter rodentium/*pathogenicity
    Colitis/*etiology
    Colitis/*metabolism
    Enterobacteriaceae Infections/*complications
    rac GTP-Binding Proteins/*deficiency
    Animals ; Colitis/genetics ; Colitis/pathology ; Colon/microbiology ; Male ; Mice ; Mice, Knockout ; rac GTP-Binding Proteins/genetics ; RAC2 GTP-Binding Protein
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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