Novel mutations of
BMC Medical Genetics, 2011 Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression.
Rinaldi Fabrizio +5 more
doaj +8 more sources
Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report [PDF]
Science ProgressTreacher Collins Syndrome (TCS) is a congenital disorder characterized by craniofacial malformations. In this case, a novel likely pathogenic nonsense variant, in the TCOF1 gene, associated with TCS, was reported.
Rafael Tamayo-Trujillo +2 more
exaly +3 more sources
TCOF1 Regulates Tumor Cell Migration Through p53-Dependent Mitochondrial Homeostasis and F-Actin Dynamics [PDF]
Current Issues in Molecular BiologyThe deficiency of TCOF1 is closely associated with multiple cellular dysfunctions, but its function in mitochondrial homeostasis and cytoskeletal regulation remains unclear.
Yuanyuan Jiang +5 more
doaj +2 more sources
DUSP12 Regulates NAT10-Mediated RNA Acetylation to Modulate DNA Repair and Therapeutic Response in Hepatocellular Carcinoma. [PDF]
MedComm (2020)In hepatocellular carcinoma (HCC) cells exposed to doxorubicin, DUSP12 depletion maintains NAT10 phosphorylation, reducing its acetyltransferase activity, which leads to reduced ac4C RNA acetylation, DNA damage response, and DNA break repair, with consequent tumor sensitization.
Boell VK +6 more
europepmc +2 more sources
TCOF1 in extracellular vesicles predicts survival in patients with HCC treated with high-dose conformal radiotherapy [PDF]
JHEP ReportsBackground & Aims: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related mortality worldwide. The lack of reliable biomarkers to predict treatment response limits patient stratification and personalized therapy.
Daniel Puhr-Westerheide +12 more
doaj +2 more sources
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
Molecular Genetics & Genomic Medicine, 2023 Background Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood.
Fang Wang +3 more
doaj +2 more sources
FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex
Cell Communication and Signaling, 2022 Among the FGF proteins, the least characterized superfamily is the group of fibroblast growth factor homologous factors (FHFs). To date, the main role of FHFs has been primarily seen in the modulation of voltage-gated ion channels, but a full picture of ...
Martyna Sochacka +6 more
doaj +3 more sources
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes [PDF]
Clinical Otolaryngology, 2020 Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.ObjectiveTo investigate four Treacher Collins syndrome patients of the Sgaw Karen family living
Chumpol Ngamphiw +15 more
core +4 more sources
Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome [PDF]
Human Genome Variation, 2021 Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859 ...
Bożena Anna Marszałek-Kruk +1 more
doaj +4 more sources
Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome [PDF]
Pediatria Polska, 2014 Treacher 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
Sąsiadek, Maria M. +2 more
core +4 more sources