Ong, Kelly Ooi Kee Mok, Michelle Meng Huang Niibori-Nambu, Akiko Du, Linsen Yanagida, Masatoshi Wang, Chelsia Qiuxia Bahirvani, Avinash Govind Chin, Desmond Wai Loon Koh, Cai Ping Ng, King Pan
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Published in
Experimental hematology
The genetic lesions that drive acute megakaryoblastic leukemia (AMKL) have not been fully elucidated. To search for genetic alterations in AMKL, we performed targeted deep sequencing in 34 AMKL patient samples and 8 AMKL cell lines and detected frequent genetic mutations in the NOTCH pathway in addition to previously reported alterations in GATA-1 ...
Liao, Ruiqi Bresnick, Emery H
Published in
Experimental hematology
Transcriptional mechanisms establish and maintain complex genetic and protein networks to control cell state transitions. The hematopoietic transcription factor GATA1 is a master regulator of erythropoiesis and megakaryopoiesis, and human GATA1 genetic variants cause anemia and megakaryoblastic leukemia. Multiomic analyses revealed that GATA1 contr...
Felício, Rafaela de Freitas Martins Jarduli-Maciel, Luciana Ribeiro Mosella, Maritza Queiroz Salas Almeida, Felipe Campos de Lima, Keli Cristina de Azevedo, Júlia Teixeira Cottas Gardinassi, Luiz Gustavo Ramos, Pablo Ivan Pereira de Santis, Gil Cunha Silva-Pinto, Ana Cristina
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Published in
Experimental hematology
Sickle cell anemia (SCA) is characterized by immune system activation and heightened susceptibility to infections. We hypothesized that SCA patients exhibit transcriptional alterations in B-cell-related genes, impacting their peripheral B-cell compartment and leading to dysregulated humoral immunity and increased infection susceptibility. Our objec...
McSweeney, Kristen Hoover, Paul Ramirez-Solano, Marisol Liu, Qi Schwartz, Jason R
Published in
Experimental hematology
Inherited bone marrow failure syndromes often result from pathogenic mutations in genes that are important for ribosome function, namely, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita. Germline mutations in SAMD9 are a frequent genetic lesion resulting in an inherited bone marrow failure syndrome with monosomy 7; s...
Chaudhary, Rahul Smith, Julianne N P Tiwari, Riya Klein, Bailey R Cordova, Brittany A Petroze, Frederick Richardson, Brian Broncano, Alyssia V Lee, Juyeun Parthasarathy, Prerana Bangalore
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Published in
Experimental hematology
Hematopoietic stem cells (HSCs) adapt to organismal blood production needs by balancing self-renewal and differentiation, adjusting to physiological demands and external stimuli. Although sex differences have been implicated in differential hematopoietic function in males versus females, the mediators responsible for these effects require further s...
Mehta, Stuti Buyanbat, Altantsetseg Kai, Yan Orkin, Stuart H
Published in
Experimental hematology
Genetic downregulation of the BCL11A transcription factor (TF) reverses the switch from fetal to adult hemoglobin and is effective in treating β-hemoglobinopathies. Genetic ablation results in a gradual reduction in protein abundance and does not lend itself to the analysis of the immediate consequences of protein loss or the determination of the d...
Khamari, Raeeka Degand, Claire Fovez, Quentin Trinh, Anne Chomy, Axel Laine, William Dekiouk, Salim Ghesquiere, Bart Quesnel, Bruno Marchetti, Philippe
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Published in
Experimental hematology
Acute myeloid leukemias are a group of hematological malignancies characterized by a poor prognosis for survival. The discovery of oncogenic mutations in the FMS-like tyrosine kinase 3 (FLT3) gene has led to the development of tyrosine kinase inhibitors such as quizartinib. However, achieving complete remission in patients remains challenging becau...
Takizawa, Hitoshi
Published in
Experimental hematology
Tur, Steven Palii, Carmen G Brand, Marjorie
Published in
Experimental hematology
Every second, the body produces 2 million red blood cells through a process called erythropoiesis. Erythropoiesis is hierarchical in that it results from a series of cell fate decisions whereby hematopoietic stem cells progress toward the erythroid lineage. Single-cell transcriptomic and proteomic approaches have revolutionized the way we understan...
Vu, Giang To Awad, Valerie Norberto, Maria Feliz Bowman, Teresa V Trompouki, Eirini
Published in
Experimental hematology
Hematopoiesis, the process of generating blood cells, starts during development with the primitive, pro-definitive, and definitive hematopoietic waves. The first two waves will generate erythrocytes and myeloid cells, although the definitive wave will give rise to hematopoietic stem cells (HSCs) that are multipotent and can produce most of the bloo...
