000			02043na a2200229 4500
003			PC5799
005			20180417112609.0
008			130622s2012 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_aSánchez del Pozo, Jaime _91156 _eEndocrinología Pediátrica
245	0	0	_aIn-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome. _h[artículo[
260			_bThe American Journal of Human Genetics, _c2012
300			_a91(5):950-7.
500			_aFormato Vancouver: Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet. 2012 Nov 2;91(5):950-7.
501			_aPMID: 23103230
504			_aContiene 24 referencias
520			_aShprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway.
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/5/pc5799.pdf _ySolicitar documento
942			_n0 _2ddc _cART
999			_c5799 _d5799