St S et al: Skewing of X-inactivation ratios in blood cells of aging ladies is confirmed by independent methodologies. Blood 2009; 113: 3472?474. 15 Araujo A, Ramos ES: Cryptic mosaicism involving a second chromosome X in individuals with Turner syndrome. Braz J Med Biol Res 2008; 41: 368?72. 16 de Kreuk BJ, Hordijk PL: Control of Rho GTPase function by BAR-domains. Smaller GTPases 2012; 3: 45?two. 17 Nakano-Kobayashi A, Kasri NN, Newey SE, Van Aelst L: The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis through endophilin A1. Curr Biol 2009; 19: 1133?139. 18 Elvers M, Beck S, Fotinos A, Ziegler M, Gawaz M: The GRAF family member oligophrenin1 can be a RhoGAP with BAR domain and regulates Rho GTPases in platelets. Cardiovasc Res 2012; 94: 526?36. 19 Eberth A, Lundmark R, Gremer L et al: A BAR domain mediated autoinhibitory mechanism for RhoGAPs in the GRAF household. Biochem J 2009; 417: 371?77. 20 Bauters M, Van Esch H, Friez MJ et al: Nonrecurrent MECP2 duplications mediated by genomic architecture driven DNA breaks and break-induced replication repair. Genome Res 2008; 18: 847?58. 21 Hastings PJ, Ira G, Lupski JR: A microhomology-mediated break-induced replication model for the origin of human copy quantity variation. PLoS Genet 2009; five: e1000327. 22 Tentler D, Gustavsson P, Leisti J et al: Deletion like the oligophrenin-1 gene connected with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Eur J Hum Genet 1999; 7: 541?48. 23 Bergmann C, Zerres K, Senderek J et al: Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 2003; 126: 1537?544. 24 Philip N, Chabrol B, Lossi AM et al: Mutations inside the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet 2003; 40: 441?46. 25 Chabrol B, Girard N, N’Guyen K et al: Delineation with the clinical phenotype linked with OPHN1 mutations according to the clinical and neuropsychological evaluation of three households.53103-03-0 Formula Am J Med Genet 2005; 138A: 314?17.2-Amino-3-bromo-5-chlorobenzoic acid Chemscene 26 Zanni G, Saillour Y, Nagara M et al: Oligophrenin 1 mutations regularly result in X-linked mental retardation with cerebellar hypoplasia.PMID:33395052 Neurology 2005; 65: 1364?369. 27 Menten B, Buysse K, Vermeulen S et al: Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12. Eur J Med Genet 2007; 50: 446?54. 28 Froyen G, Van Esch H, Bauters M et al: Detection of genomic copy quantity adjustments in patients with idiopathic mental retardation by high-resolution X-array-CGH: crucial function for increased gene dosage of XLMR genes. Hum Mutat 2007; 28: 1034?042. ? chez A, Mila M: Deletion on the ` 29 Madrigal I, Rodriguez-Revenga L, Badenas C, Sa OPHN1 gene detected by aCGH. J Intellect Disabil Res 2008; 52: 190?94. ?30 Stuve O, Dodrill CB, Holmes MD, Miller JW: The absence of interictal spikes with documented seizures suggests extratemporal epilepsy. Epilepsia 2001; 42: 778?81. 31 Zivin L, Marsan CA: Incidence and prognostic significance of `epileptiform’ activity in the EEG of non-epileptic subjects. Brain 1968; 91: 751?78.Supplementary Info accompanies this paper on European Journal of Human Genetics internet site (http://nature/ejhg)European Journal of Human Genetics
Dendritic cells (DCs) play an important function in both autoimmunity and immune tolerance. Despite the fact that DC-based immunotherapy has been applied to treat c.