Results 31 to 40 of about 1,243 (149)

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   +1 more source

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang   +8 more
doaj   +1 more source

Fishing the molecular bases of Treacher Collins syndrome.

PLoS ONE, 2012
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases.
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra   +2 more
doaj   +1 more source

An epithelial-mesenchymal transition-related 5-gene signature predicting the prognosis of hepatocellular carcinoma patients

Cancer Cell International, 2021
Background Tumor metastasis is one of the leading reasons of the dismal prognosis of hepatocellular carcinoma (HCC). Epithelial-mesenchymal transition (EMT) is closely associated with tumor metastasis including HCC.
Gongmin Zhu, Hongwei Xia, Qiulin Tang, Feng Bi   +3 more
doaj   +1 more source

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1 [PDF]

Human Molecular Genetics, 1997
The gene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has recently been cloned. While the function of the predicted protein, Treacle, is unknown, it has been shown to share a number of features with the highly phosphorylated nucleolar phosphoproteins, which play a role in nucleolar-cytoplasmic transport ...
Dixon, Jill; id_orcid 0000-0001-9774-7095, Hovanes, Karine, Shiang, Rita, Dixon, Michael J.   +3 more
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Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients

Molecular Genetics & Genomic Medicine, 2021
Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features ...
Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu   +12 more
doaj   +1 more source

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.

PLoS Genetics, 2023
Loss or absence of hearing is common at both extremes of human lifespan, in the forms of congenital deafness and age-related hearing loss. While these are often studied separately, there is increasing evidence that their genetic basis is at least ...
Daniel Hui, Shadi Mehrabi, Alexandra E Quimby, Tingfang Chen, Sixing Chen, Joseph Park, Binglan Li, Regeneron Genetics Center, Penn Medicine Biobank, Michael J Ruckenstein, Daniel J Rader, Marylyn D Ritchie, Jason A Brant, Douglas J Epstein, Iain Mathieson   +14 more
doaj   +1 more source

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability [PDF]

European Journal of Human Genetics, 2013
Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene.
Marie, Vincent, Corinne, Collet, Alain, Verloes, Laetitia, Lambert, Christian, Herlin, Catherine, Blanchet, Elodie, Sanchez, Séverine, Drunat, Jacqueline, Vigneron, Jean-Louis, Laplanche, Jacques, Puechberty, Pierre, Sarda, David, Geneviève   +12 more
openaire   +2 more sources

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Molecular Genetics & Genomic Medicine
Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated ...
Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li   +7 more
doaj   +1 more source