Results 21 to 30 of about 1,243 (149)
m6A regulators-based gene expression pattern is associated with immune microenvironment characteristics in hepatocellular carcinoma [PDF]
Scientific ReportsTo 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 ...
Wenjuan Wang +9 more
doaj +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
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: Endometrial cancer (EC) is one of the most common gynecologic cancers of the female reproductive system. Its incidence and mortality are currently increasing.
Caiqiu Xu +5 more
doaj +1 more source
Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome [PDF]
Pediatria Polska, 2014 AbstractTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The syndrome is characterized by a similar phenotype: micrognathia, microtia, midface hypoplasia, cleft lip and palate. The estimated incidence rate is 1/50000 live births.
Bożena Marszałek-Kruk +2 more
openaire +2 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
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
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
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation [PDF]
Human Molecular Genetics, 2005 Treacher Collins syndrome (TCS) is characterized by defects in craniofacial development, which results from mutations in the TCOF1 gene. TCOF1 encodes the nucleolar phosphoprotein treacle, which interacts with upstream binding factor (UBF) and affects transcription of the ribosomal DNA gene.
Gonzales, Bianca +5 more
openaire +3 more sources
Reduced transcription of
BMC Medical Genetics, 2009 Background Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene.
Camargo Anamaria A +7 more
doaj +1 more source