全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Warren Emmett , Pietro Fratta ...
来源:[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer
摘要:Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion cause...
作者:David Curtis , Warren Emmett
来源:[J].Schizophrenia Research(IF 4.59), 2018, Vol.197, pp.346-348Elsevier
摘要:Abstract(#br)There is strong cumulative evidence for the involvement of miR-137 and its targets in the aetiology of schizophrenia. Here we test whether variants, especially rare variants, in miR-137 binding sites are associated with schizophrenia in an exome-sequenced sample of 4...
作者:Warren Emmett , Natalie L. Dawson ...
来源:[J].Human Mutation(IF 5.213), 2016, Vol.37 (4), pp.364-370Wiley
摘要:ABSTRACT(#br)Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC, even in t...
作者:Warren Emmett , Pietro Fratta ...
来源:[J].2017, Vol.10 (1), pp.38BMC
摘要:Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion cause...
作者:Warren Emmett , Tiffany Morris ...
来源:[J].Epigenetics(IF 4.92), 2013, Vol.8 (10), pp.1114-1122Taylor & Francis
摘要:Stem cells have been found in most tissues/organs. These somatic stem cells produce replacements for lost and damaged cells, and it is not completely understood how this regenerative capacity becomes diminished during aging. To study the possible involvement of epigenetic changes...
作者:Warren Emmett , Adaikalavan Ramasamy ...
来源:[J].PLOS ONE(IF 3.73), 2013, Vol.8 (8)PLOS
摘要:Association studies have identified several signals at the LRRK2 locus for Parkinson's disease (PD), Crohn's disease (CD) and leprosy. However, little is known about the molecular mechanisms mediating these effects. To further characterize this locus, we fine-mapped the risk...

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