Treacher Collins syndrome-a case report and review of literature [PDF]
, 2011 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
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The emerging roles of ribosome biogenesis in craniofacial development. [PDF]
, 2014 Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
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Reduced transcription of
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 +7 more
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The “Domestication Syndrome” in Mammals: A Unified Explanation Based on Neural Crest Cell Behavior and Genetics [PDF]
, 2014 Charles Darwin, while trying to devise a general theory of heredity from the observations of animal and plant breeders, discovered that domesticated mammals possess a distinctive and unusual suite of heritable traits not seen in their wild progenitors ...
Fitch, W. Tecumseh +2 more
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Tissue Specific Roles for the Ribosome Biogenesis Factor Wdr43 in Zebrafish Development [PDF]
, 2014 During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are ...
Andreeva, Viktoria +10 more
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The Treacher Collins syndrome ( TCOF1 ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor [PDF]
Proceedings of the National Academy of Sciences, 2004 Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1 , which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have
Valdez, Benigno C. +4 more
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The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
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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 +2 more
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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 +8 more
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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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