Anti-TCOF1 antibody produced in chicken is suitable for western blotting analysis at a dilution of 1:500, for tissue or cell staining at a dilution of 1:200.
Azioni biochim/fisiol
Treacle protein is a protein encoded by the TCOF1 gene in humans. Mutation in this gene is associated with Treacher Collins syndrome (TCS), the most common and well-known mandibulofacial dysostosis. It is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata and ear deformities.
Stato fisico
Solution in phosphate buffered saline containing 0.02% sodium azide.
Journal of cell science, 126(Pt 2), 437-444 (2012-12-04)
Fundamental to the life and destiny of every cell is the regulation of protein synthesis through ribosome biogenesis, which begins in the nucleolus with the production of ribosomal RNA (rRNA). Nucleolar organization is a highly dynamic and tightly regulated process;
European journal of human genetics : EJHG, 20(7), 769-777 (2012-02-10)
Treacher-Collins-Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness. A total of 182 patients with signs consistent with a diagnosis of
European journal of pediatrics, 171(11), 1611-1618 (2012-06-26)
Treacher Collins syndrome (TCS) is the most common and well-known mandibulofacial dysostosis caused by mutations in at least three genes involved in pre-rRNA transcription, the TCOF1, POLR1D and POLR1C genes. We present a severely affected male individual with TCS with
Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics
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