Treacle's ability to form liquid-like phase condensates is essential for nucleolar fibrillar center assembly, efficient rRNA transcription and processing, and rRNA gene repair. [PDF]
Velichko AK +8 more
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Genes Related to Frontonasal Malformations Are Regulated by miR-338-5p, miR-653-5p, and miR-374-5p in O9-1 Cells. [PDF]
Iwaya C, Yu S, Iwata J.
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Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review. [PDF]
Fan X, Yang T, Lu X, Chen Y, Chen X.
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NR6A1 is essential for neural crest cell specification, formation and survival. [PDF]
Moore Zajic EL +14 more
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A LisH-domain protein interaction map reveals a Lis1-ARIH2-dynein regulatory axis. [PDF]
Gupta D, Maddika S.
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DNA Damage and Repair in Thyroid Physiology and Disease.
Arczewska KD +3 more
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Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma
Biochemical and Biophysical Research Communications, 2004Mutations in the Treacher Collins syndrome gene, TCOF1, cause a disorder of craniofacial development. We manipulated the levels of Tcof1 and its protein treacle in a murine neuroblastoma cell line to identify downstream changes in gene expression using a microarray platform.
Timothy P York, Rita Shiang
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A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome
International Journal of Pediatric Otorhinolaryngology, 2021The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples.
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