TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer [PDF]
Cell Communication and SignalingBackground 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 ...
Małgorzata Grzanka +8 more
doaj +6 more sources
Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome [PDF]
Frontiers in PediatricsTreacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis.
Yahong Liu
exaly +7 more sources
Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D [PDF]
Molecular Genetics & Genomic MedicineBackground Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, or POLR1B genes.
Patracia Nevondwe +6 more
doaj +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 +3 more sources
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome [PDF]
Molecular Genetics & Genomic MedicineBackground Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward‐slanting palpebral fissures, and conductive hearing loss.
Feiyang Fan +3 more
doaj +3 more sources
Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene
Erciyes Medical Journal, 2019 Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births.
Büşra Eser Çavdartepe +3 more
doaj +4 more sources
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome [PDF]
HGG AdvancesSummary: Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss-of-function variants in TCOF1, POLR1B, POLR1C, or POLR1D. Here, we describe two previously undiagnosed paternal half-siblings affected with clinical TCS, and their
Federico Ferraro +16 more
doaj +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 +6 more sources
Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene [PDF]
Journal of the Formosan Medical Association, 2006 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and ...
Pen-Hua Su +3 more
doaj +4 more sources
nNOS-mediated S-nitrosylation of TCOF1 regulates KRAS proteostasis to suppress hepatoblastoma progression [PDF]
Redox BiologyNeuronal nitric oxide synthase (nNOS) plays dual roles in tumorigenesis, but its function in hepatoblastoma (HB) remains unclear. Analysis of 30 clinical HB samples reveals significant nNOS downregulation, correlating with tumor malignancy ...
Ziyan Luo, Zhuoyan Li, Lingling Wu
exaly +4 more sources