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In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
Shimada, Hiroko; Lu, Quanlong; Insinna-Kettenhofen, Christine; Nagashima, Kunio; English, Milton A; Semler, Elizabeth M; Mahgerefteh, Jacklyn; Cideciyan, Artur V; Li, Tiansen; Brooks, Brian P; Gunay-Aygun, Meral; Jacobson, Samuel G; Cogliati, Tiziana; Westlake, Christopher J; Swaroop, Anand.
Affiliation
  • Shimada H; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Lu Q; Laboratory of Cell and Developmental Signaling, National Cancer Institute - Frederick, Frederick, MD 21702, USA.
  • Insinna-Kettenhofen C; Laboratory of Cell and Developmental Signaling, National Cancer Institute - Frederick, Frederick, MD 21702, USA.
  • Nagashima K; Electron Microscope Laboratory, Leidos Biomedical Research, Inc., National Cancer Institute - Frederick, Frederick, MD 21702, USA.
  • English MA; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Semler EM; Laboratory of Cell and Developmental Signaling, National Cancer Institute - Frederick, Frederick, MD 21702, USA.
  • Mahgerefteh J; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Cideciyan AV; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Li T; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Brooks BP; Pediatric, Developmental, and Genetic Eye Disease Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Gunay-Aygun M; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Cogliati T; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Westlake CJ; Laboratory of Cell and Developmental Signaling, National Cancer Institute - Frederick, Frederick, MD 21702, USA. Electronic address: chris.westlake@nih.gov.
  • Swaroop A; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: swaroopa@nei.nih.gov.
Cell Rep ; 20(2): 384-396, 2017 07 11.
Article in En | MEDLINE | ID: mdl-28700940
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fibroblasts / Antigens, Neoplasm / Neoplasm Proteins Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Cell Rep Year: 2017 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fibroblasts / Antigens, Neoplasm / Neoplasm Proteins Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Cell Rep Year: 2017 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos