Keywords: A; adenine; ACMG; American College of Medical Genetics; Ala; alanine; Asp; aspartic acid; BCL2L12; B-cell lymphoma-2-like protein 12; BRCA1; breast cancer-1 gene; C; cytosine; CCDS; Consensus Coding Sequence; CD; circular dichroism; CDC; coding sequence;
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Treacher Collins syndrome: New insights from animal models
Keywords: Craniofacial malformation; POLR1C; POLR1D; TCOF1; Translational research;
A quantitative method for defining high-arched palate using the Tcof1+/â mutant mouse as a model
Keywords: High-arched palate; Cleft palate; Palatogenesis; Quantitative imaging; Tcof1; Treacher Collins syndrome; Mouse model;
Treacher Collins Syndrome: The genetics of a craniofacial disease
Keywords: Treacher Collins; Craniofacial; TCOF1; POLR1C; POLR1D
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
Keywords: Treacher Collins syndrome; Mandibulofacial dysostosis; TCOF1; Conductive hearing loss; Genetic;
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome
Keywords: Treacher Collins syndrome; TCOF1; TREACLE; Molecular genetics
Clinical spectrum of Treacher Collins syndrome
Keywords: Bite force; missing zygomatic arch; TCOF1; Treacher Collins syndrome
Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF
Keywords: Treacle; RNA polymerase I; UBF; Nopp140; Nucleolus; Treacher Collins syndrome; TCOF1
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
Keywords: TCOF1; Treacher Collins-Franceschetti syndrome gene; YY1; Ying Yang 1 transcription factor; EMSA; Eletrophoretic Mobility Shift Assay; SNP; Single Nucleotide Polymorphisms; SSCP; Single Strand Conformation Polymorphism; dHPLC; Denaturing High-Performanc