Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.
about
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorTCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding regionTreacher Collins syndromeCharacterization of the nucleolar gene product, treacle, in Treacher Collins syndromeTreacher Collins syndrome: etiology, pathogenesis and preventionTreacher Collins syndrome: unmasking the role of Tcof1/treacleThe mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonCranio-facial dysmorphism: experimental study in the mouse, clinical applications.Genetically altered mouse models: the good, the bad, and the ugly.Franceschetti syndrome.Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature.Atypical expanded-spectrum hemifacial microsomia: a case report.Research advances in prenatal craniofacial development: report of a conference and review of topics.Morphometric analysis of the primary and permanent dentitions in hemifacial microsomia: a controlled study.Abnormal craniofacial growth.Neurocristopathy: its growth and development in 20 years.Prenatal craniofacial development: new insights on normal and abnormal mechanisms.Experimental craniofacial malformations induced by retinoids and resembling branchial arch syndromes.Prevention of etretinate-induced craniofacial malformations by vitamin B6 in the rat.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.Effects of excess vitamin A on development of cranial neural crest-derived structures: a neonatal and embryologic study.Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.HSP110, caspase-3 and -9 expression in physiological apoptosis and apoptosis induced by in vivo embryonic exposition to all-trans retinoic acid or irradiation during early mouse eye development.Postnatal Msx1 expression pattern in craniofacial, axial, and appendicular skeleton of transgenic mice from the first week until the second year.Defects in the development of branchial nerves and ganglia induced by in vitro exposure of mouse embryos to mercuric chloride.TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders
P2860
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P2860
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
1987年论文
@zh
1987年论文
@zh-cn
name
Mandibulofacial dysostosis (Tr ...... proposal for its pathogenesis.
@en
type
label
Mandibulofacial dysostosis (Tr ...... proposal for its pathogenesis.
@en
prefLabel
Mandibulofacial dysostosis (Tr ...... proposal for its pathogenesis.
@en
P2093
P356
P1476
Mandibulofacial dysostosis (Tr ...... proposal for its pathogenesis.
@en
P2093
P304
P356
10.1002/AJMG.1320270214
P577
1987-06-01T00:00:00Z