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- [1] Impaired glutamylation of RPGRORF15 underlies the conedominated phenotype associated with truncating distal ORF15 variantsPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2022, 119 (49)Cehajic-Kapetanovic, Jasmina论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, Englandde la Camara, Cristina Martinez-Fernandez论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, EnglandBirtel, Johannes论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, EnglandRehman, Salwah论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, EnglandMcClements, Michelle E.论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England论文数: 引用数: h-index:机构:Lotery, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Clin Neurosci Res Grp, Clin & Expt Sci, Southampton SO16 6YD, Hants, England Univ Hosp Southampton NHS Fdn Trust, Southampton SO16 6YD, Hants, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, EnglandMacLaren, Robert E.论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England Oxford Univ Hosp Natl Hlth Serv Trust, Oxford Eye Hosp, John Radcliffe Hosp, West Wing, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Clin Neurosci, Nuffield Lab Ophthalmol, Level 5 & 6,West Wing, Oxford OX3 9DU, England
- [2] LEUKEMOGENESIS INDUCED BY C-TERMINAL MUTATIONS IN THE BASIC LEUCINE ZIPPER DOMAIN OF C/EBPαEXPERIMENTAL HEMATOLOGY, 2013, 41 (08) : S56 - S56Togami, Katsuhiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanKitaura, Jiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanInoue, Daichi论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanKagiyama, Yuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanUchida, Tomoyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanNishimura, Kotaro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanDoki, Noriko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanKato, Naoko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan论文数: 引用数: h-index:机构:Oki, Toshihiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanHarada, Yuka论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Hematol, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, JapanHarada, Hironori论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Hematol, Tokyo, Japan Univ Tokyo, Inst Med Sci, Div Cellular Therapy, Tokyo, Japan论文数: 引用数: h-index:机构:
- [3] The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivoBIOLOGY OPEN, 2016, 5 (04): : 424 - 428Rao, Kollu N.论文数: 0 引用数: 0 h-index: 0机构: UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USA UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USAAnand, Manisha论文数: 0 引用数: 0 h-index: 0机构: UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USA UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USAKhanna, Hemant论文数: 0 引用数: 0 h-index: 0机构: UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USA UMASS Med Sch, Horae Gene Therapy Ctr, Dept Ophthalmol, Worcester, MA 01605 USA
- [4] Mutations in the C-terminal domain of sonic hedgehog cause holoprosencephalyHUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1847 - 1853Roessler, E论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Belloni, E论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Gaudenz, K论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Vargas, F论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Scherer, SW论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Tsui, LC论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104Muenke, M论文数: 0 引用数: 0 h-index: 0机构: UNIV PENN,SCH MED,CHILDRENS HOSP PHILADELPHIA,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104
- [5] Phosphopeptide models of the C-terminal basic domain of p53PEPTIDES: FRONTIERS OF PEPTIDES SCIENCE, 1999, : 715 - 716Hoffmann, R论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USABolger, RE论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USAXiang, ZQ论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USABlaszczyk-Thurin, M论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USAErtl, HCJ论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USAOtvos, L论文数: 0 引用数: 0 h-index: 0机构: Wistar Inst, Philadelphia, PA 19104 USA Wistar Inst, Philadelphia, PA 19104 USA
- [6] Regulation of Chk1 by Its C-terminal DomainMOLECULAR BIOLOGY OF THE CELL, 2008, 19 (11) : 4546 - 4553Kosoy, Ana论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Oncol Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Oncol Sci, New York, NY 10029 USAO'Connell, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Oncol Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Oncol Sci, New York, NY 10029 USA
- [7] Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeJOURNAL OF CLINICAL INVESTIGATION, 2024, 134 (04):Delafontaine, Selket论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumIannuzzo, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Cochin, CNRS, INSERM, Paris, France Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBigley, Tarin M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Rheumatol Immunol, Dept Pediat, St Louis, MO USA Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumMylemans, Bram论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Chem, Lab Biomol Modelling & Design, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumRana, Ruchit论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Div Immunol Allergy & Retrovirol, Houston, TX USA Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBaatsen, Pieter论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Electron Microscopy Platform VIB Bio Imaging Core, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumPoli, Maria Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Desarollo, Dept Pediat, Clin Alemana Santiago, Santiago, Chile Hosp Ninos Dr Roberto Rio, Immunol & Rheumatol Unit, Santiago, Chile Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumRymen, Daisy论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumJansen, Katrien论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumMekahli, Djalila论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Lab Ion Channel Res, Dept Cellular & Mol Med, PKD Res Grp, Leuven, Belgium Univ Hosp Leuven, Dept Pediat Nephrol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumCasteels, Ingele论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Ophthalmol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumCassiman, Catherine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Ophthalmol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumDemaerel, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Radiol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumLepelley, Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Neurogenet & Neuroinflammat, INSERM,UMR 1163, Paris, France Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumFremond, Marie -Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Lab Neurogenet & Neuroinflammat, INSERM,UMR 1163, Paris, France Univ Paris Cite, Necker Hosp, AP HP, Paediat Haematol Immunol & Rheumatol Unit, Paris, France Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumSchrijvers, Rik论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBossuyt, Xavier论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Clin & Diagnost Immunol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumVints, Katlijn论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Electron Microscopy Platform VIB Bio Imaging Core, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumHuybrechts, Wim论文数: 0 引用数: 0 h-index: 0机构: Leuven Univ Hosp, Ctr Human Genet, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumTacine, Rachida论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Cochin, CNRS, INSERM, Paris, France Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumWillekens, Karen论文数: 0 引用数: 0 h-index: 0机构: Leuven Univ Hosp, Ctr Human Genet, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumCorveleyn, Anniek论文数: 0 引用数: 0 h-index: 0机构: Leuven Univ Hosp, Ctr Human Genet, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBoeckx, Bram论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium VIB Ctr Canc Biol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBaggio, Marco论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumEhlers, Lisa论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumMunck, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, VIB Bio Imaging Core, Dept Neurosci, Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, VIB KU Leuven Ctr Brain & Dis Res, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumLambrechts, Diether论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium VIB Ctr Canc Biol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumVoet, Arnout论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Chem, Lab Biomol Modelling & Design, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumMoens, Leen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumBucciol, Giorgia论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumCooper, Megan A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Rheumatol Immunol, Dept Pediat, St Louis, MO USA Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumDavis, Carla M.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Div Immunol Allergy & Retrovirol, Houston, TX USA Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumDelon, Jerome论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Cochin, CNRS, INSERM, Paris, France Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, BelgiumMeyts, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Herestr 49, B-3000 Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium
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