1.lncontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene and spring 机译:新生的NEMO基因无意义突变的新生儿尿失禁 - British Journal of Dermatology - 2007 2.Incontinentia Pigmenti in a Newborn with NEMO Mutation and spring 机译:无突变新生儿的失禁香料 Lee Young...
Loh NR, Jadresic LP, Whitelaw A (2008) A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation. Acta Paediatr 97: 379–381.Loh NR, Jadresic LP, Whitelaw A. A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation. Acta Paediatr ...
Dental and oral anomalies in incontinentia pigmenti: a systematic review[J]. Clin Oral Investig,2013,17: 1-8. [11] Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKKgamma) gene accounts for the vast majority of incontinentia pigmenti ...
Amorphic or hypomorphic mutations in the NEMO-encodingIKBKGgene located on the X-chromosome are associated withIncontinentia pigmenti(IP), a condition that is usually lethal in male fetuses and thus almost exclusively occurs in female patients with mosaic X-chromosome inactivation44,45,46. IP is a...
Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our...
NEMO, NFκB signaling and incontinentia pigmenti. Curr. Opin. Genet. Dev. 16, 282–288 (2006). Article CAS Google Scholar Orange, J.S. et al. The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutation. J. Allergy Clin. Immunol. 113,...
NF-κB的优势形式是一种由p50和RelA亚基构成的异二聚体的转录因子,通过与已知为IκB的蛋白抑制家族的成员结合,使得NF-κB被隔离在细胞浆内。在细胞因子TNF-α和白介素-1、内毒素(LPS)、微生物和病毒感染的刺激之下,促炎症信号汇集于经典的IκB激酶复合物(IKK),这是一种由两个激酶亚基(IKKα/IKK-1和IKKβ...
Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female... L Toeditor’ 被引量: 0发表: 0年 A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majo...
Mutations in theIKKγ/NEMO gene on the X chromosome are the cause of incontinentia pigmenti, an X-linked dominant genetic disorder of the skin that is lethal in males (51). Gene disruption studies of the IKKγ/NEMO gene demonstrate that although male mice die in utero, heterozygous female ...
1999). Recently, another disorder classified as an ectodermal dysplasia, familial incontinentia pigmenti (IP) (IP2 [MIM 308310]), has been shown to be due to mutations in IKK-gamma (NEMO) (Smahi et al. 2000). IKK-gamma is required for the activation, and subsequent translocation to the...