Cargando…

Functional characterization of BRCC3 mutations in acute myeloid leukemia with t(8;21)(q22;q22.1)

BRCA1/BRCA2-containing complex 3 (BRCC3) is a Lysine 63-specific deubiquitinating enzyme (DUB) involved in inflammasome activity, interferon signaling, and DNA damage repair. Recurrent mutations in BRCC3 have been reported in myelodysplastic syndromes (MDS) but not in de novo AML. In one of our rece...

Descripción completa

Detalles Bibliográficos
Autores principales:	Meyer, Tatjana, Jahn, Nikolaus, Lindner, Stefanie, Röhner, Linda, Dolnik, Anna, Weber, Daniela, Scheffold, Annika, Köpff, Simon, Paschka, Peter, Gaidzik, Verena I., Heckl, Dirk, Wiese, Sebastian, Ebert, Benjamin L., Döhner, Hartmut, Bullinger, Lars, Döhner, Konstanze, Krönke, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214237/ https://www.ncbi.nlm.nih.gov/pubmed/31576005 http://dx.doi.org/10.1038/s41375-019-0578-6

Ejemplares similares

Functional and clinical characterization of the alternatively spliced isoform AML1-ETO9a in adult patients with translocation t(8;21)(q22;q22.1) acute myeloid leukemia (AML)
por: Agrawal, Mridul, et al.
Publicado: (2019)

Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia
por: Pullarkat, Sheeja T., et al.
Publicado: (2009)

Images from the Haematologica Atlas of Hematologic Cytology: acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1-RUNX1T1
por: Invernizzi, Rosangela
Publicado: (2022)

Circular RNAs of the nucleophosmin (NPM1) gene in acute myeloid leukemia
por: Hirsch, Susanne, et al.
Publicado: (2017)

Clinical case of acute myeloblastic leukemia with t(8;21)(q22;q22) in a patient with Klinefelter's syndrome
por: Slavcheva, Vanya, et al.
Publicado: (2010)

An unusual case of chronic lymphocytic leukemia with trisomy 12 presenting with prolymphocytic transformation and t(8;21)(q22;q22)
por: Bhushan, Mishi, et al.
Publicado: (2021)

PB1815: ADDITIONAL СYTOGENETIC ABNORMALITIES IN ADULT ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22)
por: Zotova, Olena, et al.
Publicado: (2023)

Acute Myeloid Leukemia with t(8;21)(q22;q22) and Trisomy 4: A Rare Occurrence in a Female Child
por: Kamran, Shawana, et al.
Publicado: (2019)

伴继发性t（9;22）（q34;q11）的t（8;21）（q22;q22）急性髓系白血病一例报告及文献复习
Publicado: (2017)

A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1
por: Lee, Jun Hyung, et al.
Publicado: (2016)

Protein phosphatase 4 regulatory subunit 2 (PPP4R2) is recurrently deleted in acute myeloid leukemia and required for efficient DNA double strand break repair
por: Herzig, Julia K., et al.
Publicado: (2017)

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
por: Tassano, Elisa, et al.
Publicado: (2015)

Recurring Amplification at 11q22.1-q22.2 Locus Plays an Important Role in Lymph Node Metastasis and Radioresistance in OSCC
por: Bhosale, Priyanka G., et al.
Publicado: (2017)

P416: DNA METHYLATION-BASED CHARACTERIZATION OF ACUTE MYELOID LEUKEMIA POINTS TOWARDS KDM3B AS A 5Q HAPLOINSUFFICIENCY CANDIDATE
por: Kelly, Katherine, et al.
Publicado: (2023)

Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
por: Leary, Steven, et al.
Publicado: (2019)

Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review
por: Rao, Lakshmi, et al.
Publicado: (2010)

getITD for FLT3-ITD-based MRD monitoring in AML
por: Blätte, Tamara J., et al.
Publicado: (2019)

Molecular Characterization of the Region 7q22.1 in Splenic Marginal Zone Lymphomas
por: Robledo, Cristina, et al.
Publicado: (2011)

The Roles of Transmembrane Mucins Located on Chromosome 7q22.1 in Colorectal Cancer
por: Almasmoum, Hussain
Publicado: (2021)

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation
por: Cocciardi, Sibylle, et al.
Publicado: (2019)

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
por: Mulatinho, Milene Vianna, et al.
Publicado: (2012)

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray
por: Kim, Kyoung-Bo, et al.
Publicado: (2014)

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
por: Genesio, Rita, et al.
Publicado: (2013)

Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation
por: Lee, Jikyo, et al.
Publicado: (2022)

A detailed physical map of a region within human chromosome 16q22.1
por: Frengen, E, et al.
Publicado: (2000)

CDH1 rs9929218 variant at 16q22.1 contributes to colorectal cancer susceptibility
por: Han, Peng, et al.
Publicado: (2016)

Risk factors for post-transplant relapse and survival in younger adult patients with t(8;21)(q22;q22) acute myeloid leukemia undergoing allogeneic hematopoietic stem cell transplantation: A multicenter retrospective study
por: Zhou, Wei, et al.
Publicado: (2023)

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate
por: Rezek, Regina Ferreira, et al.
Publicado: (2014)

Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion
por: PANAGOPOULOS, IOANNIS, et al.
Publicado: (2013)

A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1
por: Lu, Yan, et al.
Publicado: (2012)

Genotype–phenotype correlation in migraine without aura focusing on the rs1835740 variant on 8q22.1
por: Christensen, Anne Francke, et al.
Publicado: (2011)

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
por: Anttila, Verneri, et al.
Publicado: (2010)

An enhancer variant at 16q22.1 predisposes to hepatocellular carcinoma via regulating PRMT7 expression
por: Shen, Ting, et al.
Publicado: (2022)

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
por: Neklason, Deborah W, et al.
Publicado: (2010)

Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features
por: Albarakati, Rayyan, et al.
Publicado: (2023)

Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes
por: Sun, Qijia, et al.
Publicado: (2022)

Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome—excess blasts detected by next-generation sequencing technique
por: Owattanapanich, Weerapat, et al.
Publicado: (2021)

A Novel Variant t(1;22) Translocation – ins(22;1)(q13;p13p31) – in a Child with Acute Megakaryoblastic Leukemia
por: Margolskee, Elizabeth, et al.
Publicado: (2017)

Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
por: Xu, Hui-Hui, et al.
Publicado: (2023)

Expression of the transcription factor CTCF in invasive breast cancer: a candidate gene located at 16q22.1
por: Rakha, E A, et al.
Publicado: (2004)

Cannot write session to /tmp/vufind_sessions/sess_f7m1ovb83q4otkn96p5qarduj0