RAD21 mutations cause a human cohesinopathy

American Journal of Human Genetics

Volumn 90, Issue 6, 2012, Pages 1014-1027

  Deardorff, Matthew A ^a,b   Wilde, Jonathan J ^a   Albrecht, Melanie ^c   Dickinson, Emma ^d   Tennstedt, Stephanie ^c   Braunholz, Diana ^c   Mönnich, Maren ^d   Yan, Yuqian ^e   Xu, Weizhen ^c,f   Gil Rodríguez, María Concepcion ^c,g   Clark, Dinah ^a   Hakonarson, Hakon ^a,b   Halbach, Sara ^h   Michelis, Laura Daniela ^a   Rampuria, Abhinav ^a   Rossier, Eva ⁱ   Spranger, Stephanie ^j   Van Maldergem, Lionel ^k   Lynch, Sally Ann ^l   Gillessen Kaesbach, Gabriele ^c   Lüdecke, Hermann Josef ^m   Ramsay, Robert G ^e,n   McKay, Michael J ^o,p   Krantz, Ian D ^a,b   Xu, Huiling ^e,n   Horsfield, Julia A ^d   Kaiser, Frank J ^c   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF LÜBECK   (Germany)

^d UNIVERSITY OF OTAGO   (New Zealand)

^e PETER MACCALLUM CANCER CENTRE   (Australia)

^f ZHEJIANG CANCER HOSPITAL   (China)

^g UNIVERSITY OF ZARAGOZA   (Spain)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ Genetikum   (Germany)

^j Praxis fuer Humangenetik   (Germany)

^k UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^l OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^m UNIVERSITY OF DUISBURG ESSEN   (Germany)

ⁿ UNIVERSITY OF MELBOURNE   (Australia)

^o North Coast Cancer Institute   (Australia)

^p UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; PROTEIN; RAD21 PROTEIN; SMC1 PROTEIN; STAG1 PROTEIN; STAG2 PROTEIN; STAG3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL CYCLE PROGRESSION; CELL SURVIVAL; COHESINOPATHY; CONGENITAL DISORDER; EUKARYOTE; FEMALE; GENE DELETION; GROWTH RETARDATION; HUMAN; HUMAN CELL; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; ZEBRA FISH;

ANIMALS; CELL CYCLE PROTEINS; CELL LINE; CELL SURVIVAL; CHROMOSOMAL PROTEINS, NON-HISTONE; COGNITION DISORDERS; COMET ASSAY; CRANIOFACIAL ABNORMALITIES; DE LANGE SYNDROME; DNA DAMAGE; ECTROMELIA; GENE DOSAGE; GENOME, HUMAN; HUMANS; HYPERTELORISM; MICRONUCLEUS TESTS; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHOSPHOPROTEINS; SISTER CHROMATID EXCHANGE; TWO-HYBRID SYSTEM TECHNIQUES; ZEBRAFISH;

DANIO RERIO; EUKARYOTA;

EID: 84862142852     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.019     Document Type: Article

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