A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome [PDF]
BMC Medical GenomicsBackground Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun +7 more
doaj +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.
Kruszyński, Wojciech +3 more
core +3 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
A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome [PDF]
Indian Journal of OphthalmologySubramanian Premkumar +5 more
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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
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
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
Cell-fate determination by ubiquitin-dependent regulation of translation. [PDF]
, 2015 Metazoan development depends on the accurate execution of differentiation programs that allow pluripotent stem cells to adopt specific fates. Differentiation requires changes to chromatin architecture and transcriptional networks, yet whether other ...
Fedrigo, Indro +7 more
core +1 more source
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]
, 1997 Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty +8 more
core +4 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