Cargando…
Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white b...
Autores principales: | Young, Alexander Neil, Perlas, Emerald, Ruiz-Blanes, Nerea, Hierholzer, Andreas, Pomella, Nicola, Martin-Martin, Belen, Liverziani, Alessandra, Jachowicz, Joanna W., Giannakouros, Thomas, Cerase, Andrea |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041748/ https://www.ncbi.nlm.nih.gov/pubmed/33846535 http://dx.doi.org/10.1038/s42003-021-01944-2 |
Ejemplares similares
-
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism
por: Turner, Elizabeth M., et al.
Publicado: (2016) -
Pelger‐Huët anomaly and T‐cell lymphoma
por: Schroers, Roland, et al.
Publicado: (2021) -
Case of acquired or pseudo-Pelger-Huët anomaly
por: Ayan, Mohamed S., et al.
Publicado: (2015) -
Hemophagocytic Lymphohistiocytosis and Pelger-Huët Anomaly Associated with Colchicine Intoxication
por: Malbora, Baris, et al.
Publicado: (2014) -
Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: Case Report
por: Lukaszewska, Janina, et al.
Publicado: (2011)