A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome

Biochemical and Biophysical Research Communications

Volumn 409, Issue 2, 2011, Pages 166-170

  Zhang, Tingting ^a,b   Chen, Mingjie ^c   Lü, Yan ^a,b   Xing, Qinghe ^c   Chen, Wantao ^a,b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Research Institute of Stomatology   (China)

^c FUDAN UNIVERSITY   (China)

Author keywords

Gli; Gorlin syndrome; Mutation; Nevoid basal cell carcinoma syndrome; PTCH1 gene; Shh

Indexed keywords

GENOMIC DNA; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR GLI2;

AMINO ACID SUBSTITUTION; ANTIGENICITY; ARTICLE; BASAL CELL NEVUS SYNDROME; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE ACTIVATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ISOELECTRIC POINT; MALE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ODONTOGENIC KERATOCYST; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; SIGNAL TRANSDUCTION;

ASIAN CONTINENTAL ANCESTRY GROUP; BASAL CELL NEVUS SYNDROME; CHINA; HEDGEHOG PROTEINS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN CONFORMATION; RECEPTORS, CELL SURFACE; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTORS;

ERINACEIDAE;

EID: 79957907732     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.04.047     Document Type: Article

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