Results 41 to 50 of about 2,358 (194)
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 +3 more
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Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome
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. +2 more
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Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
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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. +5 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 +12 more
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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 +14 more
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The human RBPome: From genes and proteins to human disease [PDF]
, 2015 RNA binding proteins (RBPs) play a central role in mediating post transcriptional regulation of genes. However less is understood about them and their regulatory mechanisms.
Hashemikhabir, Seyedsasan +2 more
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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 +3 more
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Content-based microarray search using differential expression profiles [PDF]
, 2010 BackgroundWith the expansion of public repositories such as the Gene Expression Omnibus (GEO), we are rapidly cataloging cellular transcriptional responses to diverse experimental conditions. Methods that query these repositories based on gene expression
Jesse M Engreitz +6 more
core +3 more sources
Insights into neural crest development and evolution from genomic analysis [PDF]
, 2013 The neural crest is an excellent model system for the study of cell type diversification during embryonic development due to its multipotency, motility, and ability to form a broad array of derivatives ranging from neurons and glia, to cartilage, bone,
Bronner, Marianne E. +1 more
core +1 more source