AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia

Human Molecular Genetics

Volumn 24, Issue 18, 2015, Pages 5093-5108

  Virts, Elizabeth L ^a   Jankowska, Anna ^a   Mackay, Craig ^b   Glaas, Marcel F ^c   Wiek, Constanze ^c   Kelich, Stephanie L ^a   Lottmann, Nadine ^c   Kennedy, Felicia M ^a   Marchal, Christophe ^a   Lehnert, Erik ^c   Scharf, Rüdiger E ^c   Dufour, Carlo ^d   Lanciotti, Marina ^d   Farruggia, Piero ^e   Santoro, Alessandra ^f   Savasan, Süreyya ^g   Scheckenbach, Kathrin ^c   Schipper, Jörg ^c   Wagenmann, Martin ^c   Lewis, Todd ^h   Leffak, Michael ^h   Farlow, Janice L ^a   Foroud, Tatiana M ^a   Honisch, Ellen ^c   Niederacher, Dieter ^c   Chakraborty, Sujata C ^a   Vance, Gail H ^a   Pruss, Dmitry ⁱ   Timms, Kirsten M ⁱ   Lanchbury, Jerry S ⁱ   Alpi, Arno F ^b   Hanenberg, Helmut ^a,c   more..

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d G GASLINI INSTITUTE   (Italy)

^e Ospedale Civico ARNAS   (Italy)

^f AO Ospedali Riuniti Villa Sofia Cervello   (Italy)

^g WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h WRIGHT STATE UNIVERSITY   (United States)

ⁱ Myriad Genetic Laboratories   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; FANCONI ANEMIA GROUP D2 PROTEIN; UBE2T PROTEIN, HUMAN; UBIQUITIN CONJUGATING ENZYME;

ADULT; ARTICLE; BONE MARROW DEPRESSION; BREAST CANCER; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; EXON; FANCONI ANEMIA; FEMALE; GENE DUPLICATION; GENE FREQUENCY; GENE LOCUS; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HEMATOPOIETIC STEM CELL; HIGH RISK PATIENT; HUMAN; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRIORITY JOURNAL; SOMATIC CELL; TUMOR GENE; UBE2T GENE; WILD TYPE; ADOLESCENT; ALLELE; BREAST TUMOR; CHILD; CHROMOSOME BREAKAGE; DNA DAMAGE; FIBROBLAST; GENE DELETION; GENE INACTIVATION; GENETIC COMPLEMENTATION; GENETICS; GERM CELL; METABOLISM; MIDDLE AGED; PRESCHOOL CHILD; STEM CELL; UBIQUITINATION;

ADOLESCENT; ADULT; ALLELES; BREAST NEOPLASMS; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; DNA DAMAGE; EXONS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FEMALE; FIBROBLASTS; GENE DELETION; GENE DUPLICATION; GENE KNOCKOUT TECHNIQUES; GENETIC COMPLEMENTATION TEST; GERM CELLS; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; RNA, MESSENGER; STEM CELLS; UBIQUITIN-CONJUGATING ENZYMES; UBIQUITINATION;

EID: 84938828584     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv227     Document Type: Article

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