Results 41 to 50 of about 2,522,918 (175)

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

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
openaire   +3 more sources

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

Treacher Collins syndrome – a case report

Case Reports in Perinatal Medicine, 2022
Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones.
Fraszczyk-Tousty Magda, Jankowska Agata, Tousty Joanna, Tousty Piotr, Łoniewska Beata   +4 more
doaj   +1 more source

Functional study of mesenchymal cells with pathogenic mutations in TCOF1

, 2009
Neste trabalho tentamos traçar quais seriam os efeitos funcionais e de expressão gênica de mutações patogênicas no gene TCOF1 em células não embrionárias.
Camila Camanzano Ornelas, Ornelas, Camila Camanzano   +1 more
core   +1 more source

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

Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]

, 2022
In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core   +1 more source