, 2022 Additional file 7: Fig. S6. Effect of NOLC1 and TCOF1 knock-down on the nucleolar localization of FGF12 and its interaction with NOLC1 and TCOF1. HEK 293 cells were transfected with NOLC1/TCOF1-targeting siRNA or scramble siRNA (control).
Martyna Biadun (14149020) +6 more
core +1 more source
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients [PDF]
Journal of Clinical Laboratory Analysis, 2020 AbstractBackgroundTreacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.MethodWe recruited seven TCS families.
Chuan Zhang +15 more
openaire +2 more sources
CRISPR/Cas9 allows efficient and complete knock-in of a destabilization domain-tagged essential protein in a human cell line, allowing rapid knockdown of protein function. [PDF]
PLoS ONE, 2014 Although modulation of protein levels is an important tool for study of protein function, it is difficult or impossible to knockdown or knockout genes that are critical for cell growth or viability.
Arnold Park +4 more
doaj +1 more source
Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1 [PDF]
Human Molecular Genetics, 1997 The gene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has recently been cloned. While the function of the predicted protein, Treacle, is unknown, it has been shown to share a number of features with the highly phosphorylated nucleolar phosphoproteins, which play a role in nucleolar-cytoplasmic transport ...
Dixon, Jill; id_orcid 0000-0001-9774-7095 +3 more
openaire +3 more sources
Functional study of mesenchymal cells with pathogenic mutations in TCOF1
, 2009 Neste trabalho tentamos traçar quais seriam os efeitos funcionais e de expressão gênica de mutações patogênicas no gene TCOF1 em células não embrionárias.
Camila Camanzano Ornelas +1 more
core +1 more source
, 2022 Additional file 6: Fig. S5. Efficiency of NOLC1, TCOF1 and FGF12 knock-down in U2OS-FGF12-mGFP-myc cells. Western blotting analysis of cell lysates of U2OS-FGF12-mGFP-myc cells treated with siRNA against NOLC1, TCOF1 or ...
Martyna Biadun (14149020) +6 more
core +1 more source
Tcof1 heterozygous mutant mice show small brain.
, 2012 (A) Dorsal view of wild-type (+/+) and Tcof1 heterozygous mutant (+/−) brains of P14 mice. (B) Brain weight per body weight and body weight of wild-type (n = 6) and Tcof1+/− mice (n = 6). (C) Coronal sections of wild-type (+/+) and Tcof1 heterozygous (+/−
Paul A. Trainor (129368) +3 more
core +1 more source
TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication
Cell Death & Differentiation, 2020 Telomeres are transcribed into telomeric RNA termed as TERRA. However, the transcription itself and excessive TERRA may interfere with telomere replication during S phase. The mechanism that coordinates telomere transcription and replication is unknown.
Xin Nie +9 more
openaire +3 more sources
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome [PDF]
Journal of Craniofacial Surgery, 2016 Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins ...
Hao, Shaojuan +6 more
openaire +2 more sources
Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development. [PDF]
PLoS Genetics, 2014 During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are ...
Chengtian Zhao +10 more
doaj +1 more source