De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Autor: Mirzaa, GM, Parry, DA, Fry, AE, Giamanco, KA, Schwartzentruber, J, Vanstone, M, Logan, CV, Roberts, N, Johnson, CA, Singh, S, Kholmanskikh, SS, Adams, C, Hodge, RD, Hevner, RF, Bonthron, DT, Braun, KPJ, Faivre, L, Rivière, J-B, St-Onge, J, Gripp, KW, Mancini, GMS, Pang, K, Sweeney, E, Van Esch, H, Verbeek, N, Wieczorek, D, Steinraths, M, Majewski, J, FORGE Canada Consortium, Boycott, KM, Pilz, DT, Ross, ME, Dobyns, WB, Sheridan, EG

Publikováno v: Nature genetics, vol 46, iss 5

Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c4d69dc7871230267b3af5c54473d75d
https://escholarship.org/uc/item/6p05f4xp

Tumor necrosis factor and lymphotoxin-alpha polymorphisms and severe malaria in African populations.

Autor: Clark TG, Diakite M, Auburn S, Campino S, Fry AE, Green A, Richardson A, Small K, Teo YY, Wilson J, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Marsh K, Molyneux ME, Taylor TE, Rockett KA

Publikováno v: Journal of Infectious Diseases; 2/15/2009, Vol. 199 Issue 4, p569-575, 7p

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Brain malformations and seizures by impaired chaperonin function of TRiC.

Autor: Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA., Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada., Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK., Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK., Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada., de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France., Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA., Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India., Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium., Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland., Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium., Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.

Publikováno v: Science (New York, N.Y.) [Science] 2024 Nov; Vol. 386 (6721), pp. 516-525. Date of Electronic Publication: 2024 Oct 31.