Accès ouvert
2024
article
OpenAlex
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna et autres
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. …
ca, us, kr, ru, it, dk, pl, gb, pr
(code pays fourni par la source)
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Uncropped immunoblots reported in this study.
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Tables
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Tables
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Figures S1-S7
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Uncropped immunoblots reported in this study.
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Uncropped immunoblots reported in this study.
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Methods
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Movie depicting the proposed mechanism through which amplified TNIK contributes to LSCC cell viability
Accès ouvert
2023
other
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Abstract Lung squamous cell carcinoma (LSCC) is the second most prevalent type of lung cancer. Despite extensive genomic characterization, no targeted therapies are approved for the treatment of LSCC. Distal amplification of the 3q chromosome is the most frequent genomic alteration in …
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Methods
Accès ouvert
2023
supplementary-materials
OpenAlex
Pedro Torres‐Ayuso, Elvira An, Katherine M. Nyswaner, Ryan C. Bensen et autres
Supplementary Movie depicting the proposed mechanism through which amplified TNIK contributes to LSCC cell viability