Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction

Gastroenterology

Volumn 148, Issue 4, 2015, Pages 771-782.e11

  Bonora, Elena ^a   Bianco, Francesca ^a   Cordeddu, Lina ^b   Bamshad, Michael ^c   Francescatto, Ludmila ^d   Dowless, Dustin ^d   Stanghellini, Vincenzo ^a   Cogliandro, Rosanna F ^a   Lindberg, Greger ^b   Mungan, Zeynel ^e   Cefle, Kivanc ^f   Ozcelik, Tayfun ^g   Palanduz, Sukru ^f   Ozturk, Sukru ^f   Gedikbasi, Asuman ^f   Gori, Alessandra ^a   Pippucci, Tommaso ^a   Graziano, Claudio ^a   Volta, Umberto ^a   Caio, Giacomo ^a   Barbara, Giovanni ^a   D'Amato, Mauro ^b   Seri, Marco ^a   Katsanis, Nicholas ^d   Romeo, Giovanni ^a   De Giorgio, Roberto ^a,h   more..

^a UNIVERSITY OF BOLOGNA   (Italy)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF WASHINGTON   (United States)

^d DUKE UNIVERSITY   (United States)

^e KOÇ UNIVERSITY   (Turkey)

^f ISTANBUL UNIVERSITY   (Turkey)

^g BILKENT UNIVERSITY   (Turkey)

^h Department of Clinical Medicine   (Italy)

Author keywords

Animal Model; Genetic Analysis; Intestinal Motility; Sporadic and Familial Chronic Intestinal Pseudo obstruction

Indexed keywords

APOLIPOPROTEIN B; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; PROTEIN; RAD21 PROTEIN; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; APOB PROTEIN, HUMAN; APOLIPOPROTEIN B100; CELL CYCLE PROTEIN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; RAD21 PROTEIN, HUMAN; RAD21A PROTEIN, ZEBRAFISH; RUNX1 PROTEIN, HUMAN; ZEBRAFISH PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; BINDING AFFINITY; CHILD; CHROMOSOME 11; CHROMOSOME 8; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; EPISTASIS; EXOME; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEK293 CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; IN VITRO STUDY; INTESTINE PSEUDOOBSTRUCTION; LAMINA PROPRIA; LYMPHOBLASTOID CELL; MALE; MIDDLE AGED; NERVE CELL; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REGULATORY MECHANISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; YOUNG ADULT; ZEBRA FISH; ANIMAL; CASE CONTROL STUDY; CHRONIC DISEASE; DNA SEQUENCE; GASTROINTESTINAL MOTILITY; GENE EXPRESSION PROFILING; GENE SILENCING; GENETICS; INTESTINE INNERVATION; METABOLISM; PATHOPHYSIOLOGY;

ADULT; ANIMALS; APOLIPOPROTEIN B-100; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHRONIC DISEASE; CORE BINDING FACTOR ALPHA 2 SUBUNIT; ENTERIC NERVOUS SYSTEM; FEMALE; GASTROINTESTINAL MOTILITY; GENE EXPRESSION PROFILING; GENE KNOCKDOWN TECHNIQUES; HEK293 CELLS; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PHOSPHOPROTEINS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; YOUNG ADULT; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84925356476     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.12.034     Document Type: Article

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