Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 34, 2011, Pages

  Tucker, Budd A ^a   Scheetz, Todd E ^a   Mullins, Robert F ^a   DeLuca, Adam P ^a   Hoffmann, Jeremy M ^a   Johnston, Rebecca M ^a   Jacobson, Samuel G ^b   Sheffield, Val C ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Disease modeling; Next generation sequencing; Photoreceptor differentiation; Retinal degeneration

Indexed keywords

MALE GERM CELL ASSOCIATED KINASE; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADULT; ALTERNATIVE RNA SPLICING; ANIMAL TISSUE; ARTICLE; EUKARYOTIC FLAGELLUM; EXOME; EXON; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MOUSE; NERVE FIBER; NONHUMAN; PATHOGENICITY; PHOTORECEPTOR; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; RETINA; RETINITIS PIGMENTOSA;

ALU ELEMENTS; AMINO ACID SEQUENCE; BIOLOGICAL MARKERS; CELL DIFFERENTIATION; CILIA; EXONS; GENEALOGY AND HERALDRY; HUMANS; INDUCED PLURIPOTENT STEM CELLS; ISOENZYMES; JEWS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; ORGAN SPECIFICITY; POINT MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

HARNESS;

EID: 80052143586     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1108918108     Document Type: Article

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