Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin

International Journal of Biochemistry and Cell Biology

Volumn 43, Issue 10, 2011, Pages 1523-1531

  Franco, Hector L ^a   Casasnovas, Jose J ^a   Leon, Ruth G ^b   Friesel, Robert ^b   Ge, Yongchao ^c   Desnick, Robert J ^c   Cadilla, Carmen L ^a  

^a UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^b Maine Medical Center Research Institute   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Dermo 1; Focal facial dermal dysplasia; Skin development; TWIST1

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; HETERODIMER; HOMODIMER; TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR TWIST;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONNECTIVE TISSUE; CONTROLLED STUDY; DIMERIZATION; DOWN REGULATION; FIBROBLAST; GENOTYPE; HISTONE ACETYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; NONSENSE MUTATION; PHENOTYPE; PROTEIN LOCALIZATION; REGULATORY MECHANISM; REPORTER GENE; SETLEIS SYNDROME;

CELL ADHESION MOLECULES; CELLS, CULTURED; CODON, NONSENSE; FIBROBLASTS; FOCAL DERMAL HYPOPLASIA; HELIX-LOOP-HELIX MOTIFS; HUMANS; PROTEIN MULTIMERIZATION; REPRESSOR PROTEINS; SKIN DISEASES; TRANSCRIPTIONAL ACTIVATION; TWIST TRANSCRIPTION FACTOR;

EID: 80052267873     PISSN: 13572725     EISSN: 18785875     Source Type: Journal    
DOI: 10.1016/j.biocel.2011.07.003     Document Type: Article

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