Biallelic inactivation of REV7 is associated with Fanconi anemia

Journal of Clinical Investigation

Volumn 126, Issue 9, 2016, Pages 3580-3584

  Bluteau, Dominique ^a,b   Masliah Planchon, Julien ^a,b   Clairmont, Connor ^c   Rousseau, Alix ^a,b   Ceccaldi, Raphael ^c   D'Enghien, Catherine Dubois ^d   Bluteau, Olivier ^a,b,e   Cuccuini, Wendy ^e   Gachet, Stéphanie ^a,b   De Latour, Régis Peffault ^b,e   Leblanc, Thierry ^f   Socié, Gérard ^b,e   Baruchel, André ^b,f   Stoppa Lyonnet, Dominique ^d   D'Andrea, Alan D ^c   Soulier, Jean ^a,b,e  

^a Institut Universitaire d'Hématologie   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d INSTITUT CURIE   (France)

^e SAINT LOUIS HOSPITAL   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HISTONE H2AX; HISTONE H2AX GAMMA; PROTEIN; PROTEIN P53; REV7 PROTEIN; UNCLASSIFIED DRUG; CROSS LINKING REAGENT; MAD2L2 PROTEIN, HUMAN; MAD2L2 PROTEIN, MOUSE; PROTEIN MAD2;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL CYCLE ARREST; CELL LYSATE; CELL PROLIFERATION; CELL SURVIVAL; CHILD; CHROMOSOME BREAKAGE; CONSANGUINITY; DNA DAMAGE; FANCONI ANEMIA; FEMALE; GENE EXPRESSION; GENE INACTIVATION; GENETIC PROCEDURES; HEMATOPOIETIC STEM CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SKIN FIBROBLAST; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; ANIMAL; CELL CYCLE; CHEMISTRY; CHROMOSOMAL INSTABILITY; COHORT ANALYSIS; CYTOLOGY; DNA REPAIR; FIBROBLAST; GENE SILENCING; GENETIC COMPLEMENTATION; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; KNOCKOUT MOUSE; LENTIVIRINAE; MALE; METABOLISM; MITOSIS; MOUSE; MUTATION; TUMOR CELL LINE;

ALLELES; ANIMALS; CELL CYCLE; CELL LINE, TUMOR; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME BREAKAGE; COHORT STUDIES; CROSS-LINKING REAGENTS; DNA DAMAGE; DNA REPAIR; FANCONI ANEMIA; FEMALE; FIBROBLASTS; GENE SILENCING; GENETIC COMPLEMENTATION TEST; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEMATOPOIETIC STEM CELLS; HUMANS; LENTIVIRUS; MAD2 PROTEINS; MALE; MICE; MICE, KNOCKOUT; MITOSIS; MUTATION; PHENOTYPE;

EID: 84987810005     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI88010     Document Type: Article

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