Pathogenic human variant that dislocates GATA2 zinc fingers disrupts hematopoietic gene expression and signaling networks

Although certain human genetic variants are conspicuously loss of function, decoding the impact of many variants is challenging. Previously, we described a patient with leukemia predisposition syndrome (GATA2 deficiency) with a germline GATA2 variant that inserts 9 amino acids between the 2 zinc fin...

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Detalles Bibliográficos
Autores principales: Jung, Mabel Minji, Shen, Siqi, Botten, Giovanni A., Olender, Thomas, Katsumura, Koichi R., Johnson, Kirby D., Soukup, Alexandra A., Liu, Peng, Zhang, Qingzhou, Jensvold, Zena D., Lewis, Peter W., Beagrie, Robert A., Low, Jason K.K., Yang, Lihua, Mackay, Joel P., Godley, Lucy A., Brand, Marjorie, Xu, Jian, Keles, Sunduz, Bresnick, Emery H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065080/
https://www.ncbi.nlm.nih.gov/pubmed/36809258
http://dx.doi.org/10.1172/JCI162685

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