Blar i NTNU Open på forfatter "Sheng, Ying"

Viser treff 1-3 av 3

    • A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing 

      Bjørnstad, Pål Marius; Aaløkken, Ragnhild Margrethe; Åsheim, June; Sundaram, Arvind; Nangota Felde, Caroline; Østby, Gina Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus Dehli; Sorte, Hanne Sørmo; Sheng, Ying; Ariansen, Sarah Louise; Grindedal, Eli Marie; Gilfillan, Gregor (Peer reviewed; Journal article, 2023)
      Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of ...

    • A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome 

      Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara Louise; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Hol, Johanna; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldsen, Guttorm; Selmer, Kaja Kristine (Peer reviewed; Journal article, 2021)
      Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The ...

    • Novel UCHL1 mutations reveal new insights into ubiquitin processing 

      Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine (Journal article; Peer reviewed, 2017)
      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 has been implicated in early-onset progressive neurodegeneration (MIM no. 615491), so far only in one family. In this study a second family is characterized, ...