Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

Multiple sclerosis (MS) is an inflammatory disease characterized by myelin loss and neuronal dysfunction. Despite the aggregation observed in some families, pathogenic mutations have remained elusive. In this study, we describe the identification of NR1H3 p.Arg415Gln in seven MS patients from two multi-incident families presenting severe and progressive disease, with an average age at onset of ...

متن کامل

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

(Neuron 90, 948–954; June 1, 2016) In this issue, we, the editors of Neuron, are publishing a Matters Arising in connection to the paper listed above, which Neuron published in June by Wang, Vilariño-G€ uell, and colleagues. In the original report, Wang et al. (2016a) reported that a missense variant of NR1H3 p.Arg415Gln (rs61731956) is associated with multiple sclerosis (MS) in patients from t...

متن کامل

NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk

a recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is pathological for multiple sclerosis and determines a patient’s likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al, but we find no evidence that this variant...

متن کامل

NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk

a recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is pathological for multiple sclerosis and determines a patient’s likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al, but we find no evidence that this variant...

متن کامل

NR1H3 p.Arg415Gln is not associated to multiple sclerosis risk

a recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is pathological for multiple sclerosis and determines a patient’s likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al, but we find no evidence that this variant...

متن کامل

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

منابع مشابه