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Year Number of Results
1992 1
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2001 1
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2010 1
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29 results

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Page 1
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. Adv Exp Med Biol. 2024. PMID: 38884729
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.
Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities. ...
Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with …
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 Review.
Germline mutation of TFAP2B is known to cause the Char syndrome, an autosomal dominant disorder characterized by facial dysmorphism, patent ductus arteriosus and anatomical abnormalities of the fifth digit. ...
Germline mutation of TFAP2B is known to cause the Char syndrome, an autosomal dominant disorder characterized by facial dysmor …
TFAP2B mutation and dental anomalies.
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN. Tanasubsinn N, et al. J Hum Genet. 2017 Aug;62(8):769-775. doi: 10.1038/jhg.2017.37. Epub 2017 Apr 6. J Hum Genet. 2017. PMID: 28381879 Free PMC article.
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with …
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed …
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 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 …
Char Syndrome a novel mutation and new insights: A clinical report.
Massaad E, Tfayli H, Awwad J, Nabulsi M, Farra C. Massaad E, et al. Eur J Med Genet. 2019 Dec;62(12):103607. doi: 10.1016/j.ejmg.2018.12.012. Epub 2018 Dec 21. Eur J Med Genet. 2019. PMID: 30579973
Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant …
Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenes …
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 …
KCTD1 mutants in scalp-ear-nipple syndrome and AP-2alpha P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/beta-catenin signaling.
Hu L, Chen L, Yang L, Ye Z, Huang W, Li X, Liu Q, Qiu J, Ding X. Hu L, et al. Mol Med Rep. 2020 Nov;22(5):3895-3903. doi: 10.3892/mmr.2020.11457. Epub 2020 Aug 24. Mol Med Rep. 2020. PMID: 33000225 Free PMC article.
KCTD1 exhibited no suppressive effects on the transcriptional activity of the AP-2alpha P59A mutant, resulting in Char syndrome, a genetic disorder characterized by a distinctive facial appearance, heart defect and hand abnormalities, by altered protein cellular loc …
KCTD1 exhibited no suppressive effects on the transcriptional activity of the AP-2alpha P59A mutant, resulting in Char syndrome …
AP-2β is a transcriptional regulator for determination of digit length in tetrapods.
Seki R, Kitajima K, Matsubara H, Suzuki T, Saito D, Yokoyama H, Tamura K. Seki R, et al. Dev Biol. 2015 Nov 1;407(1):75-89. doi: 10.1016/j.ydbio.2015.08.006. Epub 2015 Aug 13. Dev Biol. 2015. PMID: 26277217 Free article.
Mutations in the gene encoding AP-2beta are associated with Char syndrome, a human autosomal dominant disorder. Char syndrome patients exhibit autopod skeletal defects, including loss of phalanges and shortened fingers, suggestive of a function for AP- …
Mutations in the gene encoding AP-2beta are associated with Char syndrome, a human autosomal dominant disorder. Char …
29 results