Associated Papers
A humanized Caenorhabditis elegans model for studying pathogenic mutations in VPS45, a protein essential for membrane trafficking, associated with severe congenital neutropenia.
Gengyo-Ando K et al.
Micropublication Biology, 2023
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Frey L et al.
Blood, 2021
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Shadur B et al.
Pediatric Blood & Cancer, 2019
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
Shah RK et al.
Pediatric Blood & Cancer, 2017
Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.
Alotaibi FA et al.
International Journal of Clinical Pediatric Dentistry, 0
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