Results 11 to 20 of about 2,522,918 (175)

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects

Molecular Genetics & Genomic Medicine, 2023
AbstractBackgroundRare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacial malformations in mice.
Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo   +3 more
doaj   +4 more sources

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.
Michael John Dixon, Jill Dixon, Benigno C Valdez   +2 more
exaly   +6 more sources

FOSL1 is a key regulator of a super-enhancer driving TCOF1 expression in triple-negative breast cancer. [PDF]

Epigenetics Chromatin
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with an unmet clinical need, but its epigenetic regulation remains largely undefined.
He Q, Hu J, Huang H, Wu T, Li W, Ramakrishnan S, Pan Y, Chan KM, Zhang L, Yang M, Wang X, Chin YR.   +11 more
europepmc   +3 more sources

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.
Marszałek-Kruk, Bożena A., Śmigiel, Robert, Sąsiadek, Maria M.   +2 more
core   +4 more sources

TCOF1 is Identified to be an Unfavorable Biomarker and is Associated with Molecular Classification in Endometrial Cancer

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, Qinghai Wang, Yilin Zhang, Qirun Guo, Huiping Jiang, Suiqun Guo   +5 more
doaj   +2 more sources

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]

Mol Genet Genomic Med
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Fan F, Chen Y, Zhang T, Ma J.
europepmc   +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, Pacheco DRDCG, Magalhães YT, Turani LL, Osawa IYA, Hoch NC, Forti FL.   +6 more
europepmc   +2 more sources

Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome [PDF]

Acta fytotechnica et zootechnica, 2016
Treacher Collins Syndrome (TCS) is associated with an abnormal differentiation of the first and the second pharyngeal arch during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in general population with the frequency of in 1 in 50,000 live
Bożena Marszałek-Kruk, Magdalena Moska, Magdalena Zatoń-Dobrowolska, Wojciech Kruszyński   +3 more
openaire   +3 more sources

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients [PDF]

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, Alonso Nivaldo, Félix Têmis M, Moura Ricardo, Splendore-Gordonos Alessandra, Ornelas Camila C, Masotti Cibele, Passos-Bueno Maria   +7 more
doaj   +3 more sources

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

Taiwanese Journal of Obstetrics and Gynecology, 2022
To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected.
Wei Shin Chou, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao   +5 more
openaire   +4 more sources