SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

Proceedings of the National Academy of Sciences of the United States of America

Volumn 101, Issue 21, 2004, Pages 8090-8095

  Ruf, Rainer G ^a,b   Xu, Pin Xian ^c   Silvius, Derek ^c   Otto, Edgar A ^a   Beekmann, Frank ^a   Muerb, Ulla T ^a   Kumar, Shrawan ^d   Neuhaus, Thomas J ^e   Kemper, Markus J ^e   Raymond Jr , Richard M ^a   Brophya, Patrick D ^a   Berkman, Jennifer ^f   Gattas, Michael ^f   Hyland, Valentine ^g   Ruf, Eva Maria ^a   Schwartz, Charles ^h   Chang, Eugene H ⁱ   Smith, Richard J H ⁱ   Stratakis, Constantine A ^j   Weil, Dominique ^k   Petit, Christine ^k   Hildebrandt, Friedhelm ^a   more..

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c McLaugh Res Inst for Biomed Sci   (United States)

^d BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g QUEENSLAND HEALTH   (Australia)

^h GREENWOOD GENETIC CENTER   (United States)

ⁱ UNIVERSITY OF IOWA   (United States)

^j EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^k INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHIOOTORENAL SYNDROME; CHROMOSOME 14Q; DNA PROTEIN COMPLEX; DROSOPHILA; EMBRYO; EXON; EYA1 GENE; EYE; GENE; GENE FUNCTION; GENE INTERACTION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; HAPLOTYPE; HEARING LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ORGANOGENESIS; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DNA INTERACTION; PROTEIN PROTEIN INTERACTION; SIX1 GENE; SIX4 GENE; SIX6 GENE; SYNDROME; URINARY TRACT MALFORMATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CELL LINE; DNA; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, REPORTER; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MACROMOLECULAR SUBSTANCES; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

BOVINE ADENOVIRUS 3;

EID: 2542620650     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0308475101     Document Type: Article

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