Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

BACKGROUND: GGC repeat expansions in NOTCH2NLC are associated with neuronal intranuclear inclusion disease. Very recently, asymptomatic carriers with NOTCH2NLC repeat expansions were reported. In these asymptomatic individuals, the CpG island in NOTCH2NLC is hypermethylated, suggesting that two fact...

Descripción completa

Detalles Bibliográficos
Autores principales: Fukuda, Hiromi, Yamaguchi, Daisuke, Nyquist, Kristofor, Yabuki, Yasushi, Miyatake, Satoko, Uchiyama, Yuri, Hamanaka, Kohei, Saida, Ken, Koshimizu, Eriko, Tsuchida, Naomi, Fujita, Atsushi, Mitsuhashi, Satomi, Ohbo, Kazuyuki, Satake, Yuki, Sone, Jun, Doi, Hiroshi, Morihara, Keisuke, Okamoto, Tomoko, Takahashi, Yuji, Wenger, Aaron M., Shioda, Norifumi, Tanaka, Fumiaki, Matsumoto, Naomichi, Mizuguchi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590777/
https://www.ncbi.nlm.nih.gov/pubmed/34774111
http://dx.doi.org/10.1186/s13148-021-01192-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590777/
https://www.ncbi.nlm.nih.gov/pubmed/34774111
http://dx.doi.org/10.1186/s13148-021-01192-5

Ejemplares similares