Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal.
McConville M et al.
Science Advances, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?
Ammeti D et al.
Genes, 2025
The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.
Liu Y et al.
Therapeutic Advances in Hematology, 2025
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.
McConville BM et al.
Biorxiv : the Preprint Server for Biology, 2024
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Zaninetti C et al.
British Journal of Haematology, 2024
The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.
Monovich AC et al.
Advances in Experimental Medicine and Biology, 2024
ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.
Bloom M et al.
Blood Advances, 2023
Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia.
Bigot T et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Translate or differentiate? Molecular mechanisms of ETV6-related thrombocytopenia.
Camacho V
Journal of Thrombosis and Haemostasis : Jth, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
Gurney M et al.
British Journal of Haematology, 2023
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
Homan CC et al.
Blood, 2023
Avapritinib treatment of KIT D816V-mutant atypical chronic myeloid leukemia.
Sandow L et al.
Leukemia Research Reports, 2023
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Zerella JR et al.
Frontiers in Oncology, 2023
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Faleschini M et al.
Haematologica, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
In vivo inducible reverse genetics in patients' tumors to identify individual therapeutic targets.
Carlet M et al.
Nature Communications, 2021
Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.
Kozubik KS et al.
Platelets, 2021
ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor.
Kanamaru Y et al.
International Journal of Hematology, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
ETV6-related thrombocytopenia and platelet dysfunction.
Di Paola J et al.
Platelets, 2021
Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.
Cao J et al.
Frontiers in Oncology, 2021
Cell Fate Decisions: The Role of Transcription Factors in Early B-cell Development and Leukemia.
Fischer U et al.
Blood Cancer Discovery, 2020
ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.
Fisher MH et al.
Jci Insight, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.
Yoshino H et al.
International Journal of Hematology, 2020
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
Karastaneva A et al.
Journal of Medical Genetics, 2020
Ras pathway mutation feature in the same individuals at diagnosis and relapse of childhood acute lymphoblastic leukemia.
Zhang HH et al.
Translational Pediatrics, 2020
ETV6: A Candidate Gene for Predisposition to "Blend Pedigrees"? A Case Report from the NEXT-Famly Clinical Trial.
Bernardi S et al.
Case Reports in Hematology, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Genetic Predisposition to Childhood Cancer in the Genomic Era.
Plon SE et al.
Annual Review of Genomics and Human Genetics, 2019
ETV6-related thrombocytopenia and leukemia predisposition.
Di Paola J et al.
Blood, 2019
Prognostic significance of mutated genes in megakaryocytic disorders.
Asnafi AA et al.
Oncology Reviews, 2019
Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.
Galera P et al.
International Journal of Laboratory Hematology, 2019
Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.
Pui CH et al.
Nature Reviews. Clinical Oncology, 2019