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Transcription factor AP-2beta in development, differentiation and tumorigenesis.
Raap M, Gierendt L, Kreipe HH, Christgen M. Raap M, et al. Int J Cancer. 2021 Sep 15;149(6):1221-1227. doi: 10.1002/ijc.33558. Epub 2021 Mar 26. Int J Cancer. 2021. PMID: 33720400 Free article. Review.
Several studies indicate a critical role of AP-2beta in the development of tissues and organs of ectodermal, neuroectodermal and also mesodermal origin. Germline mutation of TFAP2B is known to cause the Char syndrome, an autosomal dominant disorder characterized by …
Several studies indicate a critical role of AP-2beta in the development of tissues and organs of ectodermal, neuroectodermal and also mesode …
Patent arterial duct.
Forsey JT, Elmasry OA, Martin RP. Forsey JT, et al. Orphanet J Rare Dis. 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. Orphanet J Rare Dis. 2009. PMID: 19591690 Free PMC article. Review.
Rare families with isolated PAD have been described in which the mode of inheritance appears to be dominant or recessive. Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial du …
Rare families with isolated PAD have been described in which the mode of inheritance appears to be dominant or recessive. Familial incidence …
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.
Sweeney E, Fryer A, Walters M. Sweeney E, et al. Clin Dysmorphol. 2000 Jul;9(3):177-82. doi: 10.1097/00019605-200009030-00005. Clin Dysmorphol. 2000. PMID: 10955477 Review.
We report a family of three affected individuals with the facial features of Char syndrome. The family also demonstrates symphalangism of the distal interphalangeal joints of the fifth fingers, extending the digital phenotype seen in this condition. We review the fe …
We report a family of three affected individuals with the facial features of Char syndrome. The family also demonstrates symph …
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
Vaughan CJ, Basson CT. Vaughan CJ, et al. Am J Med Genet. 2000 Winter;97(4):304-9. doi: 10.1002/1096-8628(200024)97:4<304::aid-ajmg1281>3.0.co;2-#. Am J Med Genet. 2000. PMID: 11376442 Review.
Patent ductus arteriosus occurs in several syndromic forms of congenital heart disease, including Holt-Oram syndrome. Recent analyses of autosomal dominant Char syndrome, which includes, with variable penetrance, patent ductus arteriosus as well as craniofacial and …
Patent ductus arteriosus occurs in several syndromic forms of congenital heart disease, including Holt-Oram syndrome. Recent analyses of aut …
Insights into the pathogenesis and genetic background of patency of the ductus arteriosus.
Bökenkamp R, DeRuiter MC, van Munsteren C, Gittenberger-de Groot AC. Bökenkamp R, et al. Neonatology. 2010 Jun;98(1):6-17. doi: 10.1159/000262481. Epub 2009 Dec 2. Neonatology. 2010. PMID: 19955832 Free article. Review.
Genetic research has identified the cause of syndromic forms of PDA, such as the TFAP2B mutations in Char syndrome. Genes that interfere with the remodeling of vascular smooth muscle cells (VSMCs) of the ductal media are affected in virtually all of these anomalies. …
Genetic research has identified the cause of syndromic forms of PDA, such as the TFAP2B mutations in Char syndrome. Genes that …
Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control.
Hilger-Eversheim K, Moser M, Schorle H, Buettner R. Hilger-Eversheim K, et al. Gene. 2000 Dec 30;260(1-2):1-12. doi: 10.1016/s0378-1119(00)00454-6. Gene. 2000. PMID: 11137286 Review.
Here, we review the current understanding of developmental defects in AP-2-deficient mice and consider regulatory functions of AP-2 in control of apoptosis, cell cycle, and gene expression. Recently, the first inherited human disorder, Char syndrome, was identified …
Here, we review the current understanding of developmental defects in AP-2-deficient mice and consider regulatory functions of AP-2 in contr …