نتایج جستجو برای: شبکة تنظیمکنندة ژن (GRN)
تعداد نتایج: 17752 فیلتر نتایج به سال:
استنتاج شبکة تنظیمکنندة ژن (GRN) با استفاده از دادههای بیان ژن، برای درک وابستگی و نحوة تنظیم ژنها، درک فرآیندهای زیستشناسی، نحوة رخداد فرآیندها و همچنین جلوگیری از وقوع برخی فرآیندهای ناخواسته (بیماری)، حائز اهمیت است. ساخت صحیح GRN، نیازمند استنتاج صحیح مجموعة پیشبینیکننده است. بهطور کلی، مهمترین محدودیت برای استنتاج صحیح مجموعة پیشبینیکننده، حجم عظیم ژنها، کم بودن تعداد نمونهها ...
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive pathology. The clinical presentation associated with GRN mutations is heterogeneous and may include clinical probable Alzheimer's disease. All GRN mutations identified thus far cause disease through a uniform disease mechanism,...
OBJECTIVE To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD). PARTICIPANTS AND DESIGN A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-...
Numerous loss-of-function mutations in the progranulin (GRN) gene cause frontotemporal lobar degeneration with ubiquitin and TAR-DNA binding protein 43-positive inclusions by reduced production and secretion of GRN. Consistent with the observation that GRN has neurotrophic properties, pharmacological stimulation of GRN production is a promising approach to rescue GRN haploinsufficiency and prev...
BACKGROUND/AIMS Parkinsonism is often associated with symptoms of frontotemporal dementia (FTD), but its pathogenesis has been largely neglected. In genetic inherited FTD-related granulin (GRN) mutations, parkinsonism is an early sign, and it is more common than in sporadic disorders. Our aim was to study grey matter (GM) volume changes in subcortical and deep cortical regions in GRN-related FT...
BACKGROUND AND AIMS Lupus nephritis (LN), with considerable morbidity and mortality, is one of the most severe manifestations of systemic lupus erythematosus (SLE). Yet, the pathogenic mechanisms of LN have not been clearly elucidated, and efficient therapies are still in great need. Granulin (GRN), a multifunctional protein linked to inflammatory diseases, has recently been reported to correla...
Alteration of the functional organization of the gene regulatory networks (GRNs) that control development of the body plan causes evolutionary change in animal morphology. A major mechanism of evolutionary change in GRN structure is alteration of cis-regulatory modules that determine regulatory gene expression. Both evolutionary conservation and evolutionary innovation must be considered in ter...
BACKGROUND Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of neurodegenerative diseases associated with personality changes and progressive dementia. Loss-of-function mutations in the growth factor progranulin (GRN) cause autosomal dominant FTLD, but so far the pathomechanism of sporadic FTLD is unclear. RESULTS We analyzed whether DNA methylation in the GRN core promoter r...
BACKGROUND The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the influence of the p.A152T MAPT variant on the clinical and neuropathological features of these Basque GRN families. METHODS AND FINDINGS We compared clinical characteristics of 14 patients who c...
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