Exome and regulatory element sequencing of neuromyelitis optica patients

  title={Exome and regulatory element sequencing of neuromyelitis optica patients},
  author={Mika Siuko and M. Valori and T. Kivel{\"a} and K. Set{\"a}l{\"a} and Andreanne Morin and T. Kwan and T. Pastinen and P. Tienari},
  journal={Journal of Neuroimmunology},
Neuromyelitis optica (NMO) is rare in Finland. To identify rare genetic variants contributing to NMO risk we performed whole exome, HLA and regulatory region sequencing in all ascertained cases during 2005-2013 (n=5) in a Southern Finnish population of 1.6 million. There were no rare variant shared by all patients. Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. Another PDZD2 variant was found in a third patient. In the non-coding sequence two… Expand
Whole‐exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4‐IgG seropositivity
The aim of the present study was to identify the major genetic factors contributing to NMOSD in Chinese patients with aquaporin 4 (AQP4)‐IgG seropositivity. Expand
Mutation of the cellular adhesion molecule NECL2 is associated with neuromyelitis optica spectrum disorder
  • Yan Xu, L. Li, +5 authors L. Cui
  • Medicine, Biology
  • Journal of the Neurological Sciences
  • 2018
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Neuromyelitis optica (Devic's syndrome).
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Neuromyelitis optica and aquaporin‐4 (AQP4) autoantibodies in consecutive optic neuritis patients in Southern Finland
The frequency of neuromyelitis optica (NMO) among consecutive optic neuritis patients in Southern Finland is analyzed and the feasibility of Aquaporin‐4 (AQP4) autoantibody assay in the diagnosis of NMO is studied. Expand
Association of the HLA-DPB1*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders.
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HLA-DPB1*0501 is associated with susceptibility to anti-aquaporin-4 antibodies positive neuromyelitis optica in Southern Han Chinese
DPB1 0501 correlates with risk of AQP4-Ab positive NMO in Southern Han Chinese and is significant higher in NMO patients than in C-MS. Expand
Finnish Disease Heritage II: population prehistory and genetic roots of Finns
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  • 2003
The settling of Finland, the genes of the Finns today, characterizing FDH, the east-west difference among Finns, and minorities in Finland, viz. the Lapps or Saami and Swedish-speaking Finns are discussed. Expand
Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads
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Increasing Incidence in Relapsing-Remitting MS and High Rates among Young Women in Finland: A Thirty-Year Follow-Up
Object. Gender and disease course specific incidences were studied in high- and medium-risk regions of MS in Finland. Methods. Age- and gender-specific incidences with 95% CIs were calculated inExpand
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