MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

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

Volumn 109, Issue 48, 2012, Pages 19763-19768

  Zhou, Haiying ^a   Spaeth, Jason M ^b   Kim, Nam Hee ^b   Xu, An ^b   Friez, Michael J ^c   Schwartz, Charles E ^c   Boyer, Thomas G ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Mays Cancer Center at UT Health San Antonio   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RNA POLYMERASE BETA SUBUNIT; RNA POLYMERASE II SUBUNIT MED12; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; GENE MUTATION; GENE TARGETING; HUMAN; INTELLECTUAL IMPAIRMENT; LUJAN SYNDROME; MOLECULAR MECHANICS; OPITZ SYNDROME; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

CELL LINE; HEDGEHOG PROTEINS; HUMANS; INTELLECTUAL DISABILITY; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MEDIATOR COMPLEX; MUTATION; NERVE TISSUE PROTEINS; PROMOTER REGIONS, GENETIC; SIGNAL TRANSDUCTION;

ERINACEIDAE;

EID: 84870320094     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1121120109     Document Type: Article

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