Cargando…

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

Detalles Bibliográficos
Autores principales:	Faleschini, Michela, Ammeti, Daniele, Papa, Nicole, Alfano, Caterina, Bottega, Roberta, Fontana, Giorgia, Capaci, Valeria, Zanchetta, Melania E., Pozzani, Federico, Montanari, Francesca, Petroni, Valeria, Giordano, Paola, Noris, Patrizia, Giona, Fiorina, Savoia, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Fondazione Ferrata Storti 2022
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425326/ https://www.ncbi.nlm.nih.gov/pubmed/35586967 http://dx.doi.org/10.3324/haematol.2022.280729

Ejemplares similares

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
por: Persico, Ilaria, et al.
Publicado: (2023)

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
por: Capaci, Valeria, et al.
Publicado: (2022)

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
por: Marconi, Caterina, et al.
Publicado: (2022)

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
por: Faleschini, Michela, et al.
Publicado: (2021)

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
por: Noetzli, Leila, et al.
Publicado: (2015)

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study
por: Noris, Patrizia, et al.
Publicado: (2013)

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
por: Bottega, Roberta, et al.
Publicado: (2021)

Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
por: Persico, Ilaria, et al.
Publicado: (2023)

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia
por: Topka, Sabine, et al.
Publicado: (2015)

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
por: Persico, Ilaria, et al.
Publicado: (2022)

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
por: Pecci, Alessandro, et al.
Publicado: (2017)

Pediatric Mastocytosis: An Update
por: Giona, Fiorina
Publicado: (2021)

Association of Immune Thrombocytopenia and Inflammatory Bowel Disease in Children
por: Guarina, Angela, et al.
Publicado: (2021)

Structured and disordered regions cooperatively mediate DNA-binding autoinhibition of ETS factors ETV1, ETV4 and ETV5
por: Currie, Simon L., et al.
Publicado: (2017)

“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
por: Lassandro, Giuseppe, et al.
Publicado: (2022)

Oncogenic miR-181a/b affect the DNA damage response in aggressive breast cancer
por: Bisso, Andrea, et al.
Publicado: (2013)

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
por: Ravera, Silvia, et al.
Publicado: (2016)

Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis
por: Lu, Benson, et al.
Publicado: (2009)

A mutant p53/Hif1α/miR-30d axis reprograms the secretory pathway promoting the release of a prometastatic secretome
por: Capaci, Valeria, et al.
Publicado: (2020)

Amplifying Tumor–Stroma Communication: An Emerging Oncogenic Function of Mutant p53
por: Capaci, Valeria, et al.
Publicado: (2021)

ETV6 mutations in early immature human T cell leukemias
por: Van Vlierberghe, Pieter, et al.
Publicado: (2011)

Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model
por: Borst, Sara, et al.
Publicado: (2021)

More than just mild thrombocytopenia: Clinical clues in the diagnosis of germline predisposition to malignancy from a rare ETV6 variant
por: Fang, Shannon, et al.
Publicado: (2023)

ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment
por: Villar, Javiera, et al.
Publicado: (2022)

Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements
por: Papadopoulou, Vasiliki, et al.
Publicado: (2023)

Covid-19 and Children with Immune Thrombocytopenia: Emerging Issues
por: Lassandro, Giuseppe, et al.
Publicado: (2020)

Antithyroid treatment improves thrombocytopenia in a young patient with Graves’ disease
por: Faienza, Maria Felicia, et al.
Publicado: (2020)

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
por: Barozzi, Serena, et al.
Publicado: (2021)

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
por: Bottega, Roberta, et al.
Publicado: (2018)

Long-term quality of life after ETV or ETV with consecutive VP shunt placement in hydrocephalic pediatric patients
por: Bogaczyk, Victoria, et al.
Publicado: (2022)

Heidelberg ETV score to assess success of ETV in patients with occlusive hydrocephalus: a retrospective single-center study
por: Issa, Mohammed, et al.
Publicado: (2023)

Structures of the Ets Protein DNA-binding Domains of Transcription Factors Etv1, Etv4, Etv5, and Fev: DETERMINANTS OF DNA BINDING AND REDOX REGULATION BY DISULFIDE BOND FORMATION
por: Cooper, Christopher D. O., et al.
Publicado: (2015)

ETV2 Upregulation Marks the Specification of Early Cardiomyocytes and Endothelial Cells During Co-differentiation
por: Cao, Xu, et al.
Publicado: (2022)

Specific and redundant activities of ETV1 and ETV4 in prostate cancer aggressiveness revealed by co-overexpression cellular contexts
por: Mesquita, Diana, et al.
Publicado: (2015)

Correction to: Long‑term quality of life after ETV or ETV with consecutive VP shunt placement in hydrocephalic pediatric patients
por: Bogaczyk, Victoria, et al.
Publicado: (2022)

Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial
por: Zaninetti, Carlo, et al.
Publicado: (2020)

ETV2 mediates endothelial transdifferentiation of glioblastoma
por: Zhao, Chengjian, et al.
Publicado: (2018)

ETV4: an emerging target in pancreatic cancer
por: Deshmukh, Sachin Kumar, et al.
Publicado: (2018)

Use of Eltrombopag in Children With Chronic Immune Thrombocytopenia (ITP): A Real Life Retrospective Multicenter Experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP)
por: Giordano, Paola, et al.
Publicado: (2020)

Long term use of eltrombopag in children with chronic immune thrombocytopenia: extended real life retrospective multicenter experience of the Italian Association of Pediatric Hematology and Oncology
por: Giordano, Paola, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_hr4tsk6brgrsjso332uthje797