A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E

Human Molecular Genetics

Volumn 19, Issue 5, 2010, Pages 848-860

  Maass, Philipp G ^a   Wirth, Jutta ^b   Aydin, Atakan ^a   Rump, Andreas ^c   Stricker, Sigmar ^d   Tinschert, Sigrid ^c   Otero, Miguel ^e   Tsuchimochi, Kaneyuki ^e   Goldring, Mary B ^e   Luft, Friedrich C ^a,f   Bähring, Sylvia ^f  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b WAGENINGEN UNIVERSITY   (Netherlands)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e HOSPITAL FOR SPECIAL SURGERY   (United States)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE LIKE HORMONE; PARATHYROID HORMONE RELATED PROTEIN; SHAB POTASSIUM CHANNEL; TRANSCRIPTION FACTOR AP 1; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; BRACHYDACTYLY TYPE E; CARTILAGE CELL; CASE REPORT; CELL DIFFERENTIATION; CHROMOSOME 12P; CHROMOSOME 8; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 8; CONTROLLED STUDY; DOWN REGULATION; FAMILY STUDY; FIBROBLAST; GENE ACTIVITY; GENE DISRUPTION; GENE FREQUENCY; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN MOTIF; REGULATORY SEQUENCE; WILD TYPE;

ADAM PROTEINS; ANIMALS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 8; DOWN-REGULATION; FINGERS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; MICE; PARATHYROID HORMONE-RELATED PROTEIN; REGULATORY SEQUENCES, NUCLEIC ACID; TOES; TRANSLOCATION, GENETIC;

MURINAE;

EID: 77950543794     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp553     Document Type: Article

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