Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. [PDF]
Orphanet J Rare DisBackground Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.
Chen Y +5 more
europepmc +2 more sources
Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes. [PDF]
J Clin InvestBirth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions.
Fitriasari S +6 more
europepmc +2 more sources
m6A regulators-based gene expression pattern is associated with immune microenvironment characteristics in hepatocellular carcinoma. [PDF]
Sci RepTo evaluate the relationship between N6-methyladenosine (m6A) modification-related genes and the immune microenvironment characteristics of hepatocellular carcinoma (HCC), and to evaluate the potential of targeting m6A regulators to sensitize HCC cells ...
Wang W +9 more
europepmc +2 more sources
Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome [PDF]
J Appl Genet, 2012 Erratum to: J Appl Genetics DOI 10.1007/s13353-012-0091-3 Unfortunately, the original version of this article inadvertently contained errors: Is c.484_668ins185bp; Should be: c.483_484ins185 (the revised sentence appears 5 times: in abstract & main text).
Marszałek-Kruk B +3 more
europepmc +3 more sources
Stem Cell Research, 2021 Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
doaj +1 more source
Cell Reports, 2023 Summary: Biomolecular condensates are implicated in core cellular processes such as gene regulation and ribosome biogenesis. Although the architecture of biomolecular condensates is thought to rely on collective interactions between many components, it ...
Nima Jaberi-Lashkari +3 more
doaj +1 more source
Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins [PDF]
, 2015 A síndrome de Treacher Collins (STC) é um distúrbio do desenvolvimento craniofacial de herança autossômica dominante causada por mutações no gene TCOF1, localizado no cromossomo 5 (5q32).
Splendore, Alessandra Della Casa
openaire +2 more sources
TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer. [PDF]
Cell Commun SignalBackground TCOF1 is a nucleolar protein involved in ribosome biogenesis, DNA damage response, and mitotic regulation. Germline TCOF1 mutations are associated with Treacher-Collins syndrome, a rare congenital disorder characterized by craniofacial ...
Grzanka M +8 more
europepmc +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
Life, 2022 The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations.
Bernardette Estandia-Ortega +5 more
doaj +1 more source