Differences in genetic and epigenetic alterations between von Hippel–Lindau disease–related and sporadic hemangioblastomas of the central nervous system | Zendy

Shunsaku Takayanagi | Zendy; Akitake Mukasa | Zendy; Shota Tanaka | Zendy; Masashi Nomura | Zendy; Mayu Omata | Zendy; Shunsuke Yanagisawa | Zendy; Shogo Yamamoto | Zendy; Koichi Ichimura | Zendy; Hirofumi Nakatomi | Zendy; Keisuke Ueki | Zendy; Hiroyuki Aburatani | Zendy; Nobuhito Saito | Zendy

Open Access

Differences in genetic and epigenetic alterations between von Hippel–Lindau disease–related and sporadic hemangioblastomas of the central nervous system

Author(s) -

Shunsaku Takayanagi,

Akitake Mukasa,

Shota Tanaka,

Masashi Nomura,

Mayu Omata,

Shunsuke Yanagisawa,

Shogo Yamamoto,

Koichi Ichimura,

Hirofumi Nakatomi,

Keisuke Ueki,

Hiroyuki Aburatani,

Nobuhito Saito

Publication year - 2017

Publication title -

neuro-oncology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.005

H-Index - 125

eISSN - 1523-5866

pISSN - 1522-8517

DOI - 10.1093/neuonc/nox034

Subject(s) - loss of heterozygosity , epigenetics , multiplex ligation dependent probe amplification , biology , genetics , pathogenesis , cancer research , single nucleotide polymorphism , allele , gene , genotype , exon , immunology

Although inactivation of the von Hippel-Lindau gene (VHL), located on chromosome 3p25, is considered to be a major cause of hemangioblastomas (HBs), the incidence of biallelic inactivation of VHL is reportedly low. The aim of this study was to determine the prevalence of VHL alterations in HBs, as well as to identify additional molecular aberrations.

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