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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

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Title: Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Authors: Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre (MUHC), Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Shakya S; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Yang T; Institute of Pharmaceutical Sciences, College of Pharmacy, Seoul National University, 08826, Seoul, Republic of Korea., Insinna C; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Kim SY; Department of Genomic Medicine, Seoul National University Hospital, 03080, Seoul, Republic of Korea., Bell D; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Butov KR; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.; Department of Molecular Biology and Medical Biotechnology, Pirogov Russian National Research Medical University, Moscow, 117997, Russia., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Lee HS; School of Biological Sciences, Seoul National University, 08826, Seoul, Republic of Korea., Yoo T; Department of Biomedical Sciences, Seoul National University College of Medicine, 03080, Seoul, Republic of Korea., Stauffer J; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Zhao H; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, DINOGMI University of Genova, Largo Gaslini 5, Genoa, Italy., Pedemonte M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Diana MC; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Zakharova V; National Medical Research Center for Endocrinology, Clinical data analysis department, Moscow, Russian Federation, Russia., Shcherbina A; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia., Rodina Y; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Roos LS; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, København, Denmark., Wierzba J; Department of Pediatrics and Internal Medicine Nursing, Department of Rare Disorders, Medical University of Gdansk, Gdansk, Poland., Dobosz A; Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, 30-663, Krakow, Poland., Gerard A; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Potocki L; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Lalani SR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Scott TM; Division of Microbiology and Immunology, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Scott D; Baylor Genetics Laboratories, Houston, TX, USA., Azamian MS; Baylor Genetics Laboratories, Houston, TX, USA., Louie R; Greenwood Genetic Center, Greenwood, SC, USA., Moore HW; Greenwood Genetic Center, Greenwood, SC, USA., Champaigne NL; Greenwood Genetic Center, Greenwood, SC, USA., Hollingsworth G; Greenwood Genetic Center, Greenwood, SC, USA., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Pawińskiego 3C, 02-106, Warsaw, Poland., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University. College London, London, WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Chillemi G; Department for Innovation in Biological, Agro-food and Forest systems, DIBAF, University of Tuscia, Via S. Camillo de Lellis s.n.c, 01100, Viterbo, Italy., Ognibene M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Cooney E; Division of Medical Genetics and Metabolism, Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA., Do J; Division of Medical Genetics and Metabolism, Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA., Linnemann A; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Specht S; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Walters KJ; Center for Structural Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA., Choi HJ; School of Biological Sciences, Seoul National University, 08826, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, 03080, Seoul, Republic of Korea., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Youkharibache P; Cancer Science Data Lab, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, 03080, Seoul, Republic of Korea., Capra V; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, DINOGMI University of Genova, Largo Gaslini 5, Genoa, Italy., Park SG; Institute of Pharmaceutical Sciences, College of Pharmacy, Seoul National University, 08826, Seoul, Republic of Korea. riceo2@snu.ac.kr., Westlake CJ; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA. chris.westlake@nih.gov.
Source: Nature communications [Nat Commun] 2024 Jan 08; Vol. 15 (1), pp. 365. Date of Electronic Publication: 2024 Jan 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
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Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, DINOGMI University of Genova, Largo Gaslini 5, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pedemonte+M%22">Pedemonte M</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Diana+MC%22">Diana MC</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Baldassari+S%22">Baldassari S</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Zakharova+V%22">Zakharova V</searchLink>; National Medical Research Center for Endocrinology, Clinical data analysis department, Moscow, Russian Federation, Russia.<br /><searchLink fieldCode="AU" term="%22Shcherbina+A%22">Shcherbina A</searchLink>; 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            NameFull: Nigro V
      – PersonEntity:
          Name:
            NameFull: Ploski R
      – PersonEntity:
          Name:
            NameFull: Salpietro V
      – PersonEntity:
          Name:
            NameFull: Zara F
      – PersonEntity:
          Name:
            NameFull: Pizzi S
      – PersonEntity:
          Name:
            NameFull: Chillemi G
      – PersonEntity:
          Name:
            NameFull: Ognibene M
      – PersonEntity:
          Name:
            NameFull: Cooney E
      – PersonEntity:
          Name:
            NameFull: Do J
      – PersonEntity:
          Name:
            NameFull: Linnemann A
      – PersonEntity:
          Name:
            NameFull: Larsen MJ
      – PersonEntity:
          Name:
            NameFull: Specht S
      – PersonEntity:
          Name:
            NameFull: Walters KJ
      – PersonEntity:
          Name:
            NameFull: Choi HJ
      – PersonEntity:
          Name:
            NameFull: Choi M
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Youkharibache P
      – PersonEntity:
          Name:
            NameFull: Chae JH
      – PersonEntity:
          Name:
            NameFull: Capra V
      – PersonEntity:
          Name:
            NameFull: Park SG
      – PersonEntity:
          Name:
            NameFull: Westlake CJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 01
              Text: 2024 Jan 08
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1