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CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Wert, Katherine J; Bassuk, Alexander G; Wu, Wen-Hsuan; Gakhar, Lokesh; Coglan, Diana; Mahajan, MaryAnn; Wu, Shu; Yang, Jing; Lin, Chyuan-Sheng; Tsang, Stephen H; Mahajan, Vinit B.
Afiliação
  • Wert KJ; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Institute of Human Nutrition, College of Physicians and Surgeons.
  • Bassuk AG; Department of Pediatrics and Neurology.
  • Wu WH; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute.
  • Gakhar L; Department of Biochemistry, Protein Crystallography Facility.
  • Coglan D; Omics Laboratory and Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
  • Mahajan M; Omics Laboratory and Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
  • Wu S; Department of Pediatrics and Neurology.
  • Yang J; Protein Crystallography Facility, Omics Laboratory and.
  • Lin CS; Herbert Irving Comprehensive Cancer Center.
  • Tsang SH; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Institute of Human Nutrition, College of Physicians and Surgeons, Department of Pathology and Cell Biology, College of Physicians and Surge
  • Mahajan VB; Omics Laboratory and Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA mahajanlab@gmail.com gene.targeting@gmail.com.
Hum Mol Genet ; 24(16): 4584-98, 2015 Aug 15.
Article em En | MEDLINE | ID: mdl-25994508
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Uveíte / Calpaína / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Uveíte / Calpaína / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Ano de publicação: 2015 Tipo de documento: Article