نتایج جستجو برای: Laminopathy
تعداد نتایج: 103 فیلتر نتایج به سال:
Genetic predisposition is recognized as an important pathogenetic factor in otitis media (OM) and associated diseases. Mutant Lmna mice heterozygous for the disheveled hair and ears allele (Lmna(Dhe/+)) exhibit early-onset, profound hearing deficits and other pathological features mimicking human laminopathy associated with the LMNA mutation. We assessed the effects of the Lmna(Dhe/+) mutation ...
Prelamin A accumulation is known to dysregulate the NFB signaling cascade, causing a secretion of high levels of proinflammatory cytokines, which in turn might contribute to the pathologic aging observed in laminopathies, and in particular in HGPS [1]. In collaboration with researchers and clinicians of the Italian network for Laminopathies, we wondered whether it was possible to identify a pat...
In front of the wide clinical and genetic heterogeneity of the laminopathies, the first task of the French Network on EDMD and other related nuclear envelope related diseases, has been to set up in 2000, a mutation database for LMNA and EMD mutations. We selected the Universal Mutation Database tool (UMD) developed by Christophe Beroud (http://www.umd.be, [1]) and set up the UMD-LMNA database t...
The nucleus is typically depicted as a sphere encircled by a smooth surface of nuclear envelope. For most cell types, this depiction is accurate. In other cell types and in some pathological conditions, however, the smooth nuclear exterior is interrupted by tubular invaginations of the nuclear envelope, often referred to as a "nucleoplasmic reticulum," into the deep nuclear interior. We have re...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید