A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining

Journal of Clinical Investigation

Volumn 119, Issue 1, 2009, Pages 91-98

  Van Der Burg, Mirjam ^a   IJspeert, Hanna ^a   Verkaik, Nicole S ^a   Turul, Tuba ^b   Wiegant, Wouter W ^c   Morotomi Yano, Keiko ^d   Mari, Pierre Olivier ^a   Tezcan, Ilhan ^b   Chen, David J ^d   Zdzienicka, Malgorzata Z ^c,e   Van Dongen, Jacques J M ^a   Van Gent, Dik C ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b HACETTEPE UNIVERSITY   (Turkey)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e NICOLAUS COPERNICUS UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DEPENDENT PROTEIN KINASE; IMMUNOGLOBULIN; NUCLEOTIDE; PHOSPHOTRANSFERASE; DCLRE1C PROTEIN, HUMAN; NUCLEAR PROTEIN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; POLYDEOXYRIBONUCLEOTIDE SYNTHASE (ATP); PRKDC PROTEIN, HUMAN;

ANIMAL CELL; ARTEMIS GENE; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CHILD; CONTROLLED STUDY; DNA BINDING; DNA REPAIR; ENZYME ACTIVITY; FEMALE; GENE; GENE ACTIVATION; GENE FUNCTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; CYTOLOGY; FIBROBLAST; GENETIC RECOMBINATION; GENETICS; GENOTYPE; INFANT; MALE; METABOLISM; MOLECULAR GENETICS; PEDIGREE; PHYSIOLOGY; RADIATION DOSE; RADIATION EXPOSURE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; DNA LIGASES; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-ACTIVATED PROTEIN KINASE; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; RADIATION TOLERANCE; RECOMBINATION, GENETIC; SEQUENCE ALIGNMENT; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 61749104245     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI37141     Document Type: Article

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