ID
45661
Descrição
Principal Investigator: Lorenz Studer, Memorial Sloan Kettering Cancer Center, New York, NY, USA MeSH: Dysautonomia, Familial https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001233 Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in *IKBKAP*, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation.
Link
Palavras-chave
Versões (1)
- 23/03/2023 23/03/2023 - Simon Heim
Titular dos direitos
Lorenz Studer, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Transferido a
23 de março de 2023
DOI
Para um pedido faça login.
Licença
Creative Commons BY 4.0
Comentários do modelo :
Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.
Comentários do grupo de itens para :
Comentários do item para :
Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.
dbGaP phs001233 Disease Severity in Familial Dysautonomia
Subject - Consent - Affection Status Information (All Cases)
Similar models
Subject - Consent - Affection Status Information (All Cases)
C0449416 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
C0441833 (UMLS CUI [1,2])