Mutations in Pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium

American Journal of Pathology

Volumn 184, Issue 10, 2014, Pages 2641-2652

  Farkas, Michael H ^a   Lew, Deborah S ^b   Sousa, Maria E ^a   Bujakowska, Kinga ^a,b   Chatagnon, Jonathan ^b   Bhattacharya, Shomi S ^b,c,d   Pierce, Eric A ^a   Nandrot, Emeline F ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PRE MESSENGER RNA PROCESSING FACTOR 3; PRE MESSENGER RNA PROCESSING FACTOR 31; PRE MESSENGER RNA PROCESSING FACTOR 8; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; EYE PROTEIN; PRP8 PROTEIN, MOUSE; PRPF3 PROTEIN, MOUSE; PRPF31 PROTEIN, HUMAN; PRPF31 PROTEIN, MOUSE; RNA BINDING PROTEIN; RNA PRECURSOR; RNA SPLICING FACTOR; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ANIMAL EXPERIMENT; ARTICLE; CELL ADHESION; CIRCADIAN RHYTHM; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN CELL; INTERNALIZATION; MALE; MICROVILLUS; MORPHOLOGY; MOUSE; NONHUMAN; PHAGOCYTOSIS; PHOTORECEPTOR OUTER SEGMENT; PIGMENT EPITHELIUM; PRIORITY JOURNAL; ANIMAL; DISEASE MODEL; GENE SILENCING; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; RETINA; RETINA DEGENERATION; RETINAL PIGMENT EPITHELIUM; RETINITIS PIGMENTOSA; RNA SPLICING; TRANSGENIC MOUSE;

ANIMALS; CIRCADIAN RHYTHM; DISEASE MODELS, ANIMAL; EYE PROTEINS; FEMALE; GENE KNOCKDOWN TECHNIQUES; HUMANS; MALE; MICE; MICE, TRANSGENIC; MUTATION; PHAGOCYTOSIS; RETINA; RETINAL DEGENERATION; RETINAL PIGMENT EPITHELIUM; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; RNA PRECURSORS; RNA SPLICING; RNA SPLICING FACTORS; RNA-BINDING PROTEINS;

EID: 84922473321     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2014.06.026     Document Type: Article

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