The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
出版年份 2020 全文链接
标题
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
作者
关键词
-
出版物
Nature Communications
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-02-25
DOI
10.1038/s41467-020-14829-5
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Quality and quantity control of gene expression by nonsense-mediated mRNA decay
- (2019) Tatsuaki Kurosaki et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing
- (2018) Claudia Wehr et al. BLOOD
- GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
- (2018) Ahad F. Al Seraihi et al. LEUKEMIA
- Adenosine deaminase deficiency: a review
- (2018) Aisling M. Flinn et al. Orphanet Journal of Rare Diseases
- Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelicERCC6L2variants
- (2018) Hemanth Tummala et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia
- (2018) Marcela Cavalcante de Andrade Silva et al. Cancer Genetics
- Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies
- (2018) Imo J. Akpan et al. Current Hematologic Malignancy Reports
- Functional genomic landscape of acute myeloid leukaemia
- (2018) Jeffrey W. Tyner et al. NATURE
- Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
- (2017) Shirleny R. Cardoso et al. HAEMATOLOGICA
- Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation
- (2017) Rashmi Kanagal-Shamanna et al. HAEMATOLOGICA
- Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
- (2017) Victor B. Pastor et al. HAEMATOLOGICA
- Myeloid neoplasms with germline DDX41 mutation
- (2017) Jesse J. C. Cheah et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders
- (2017) N Maslah et al. LEUKEMIA
- Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation
- (2017) S Kobayashi et al. LEUKEMIA
- Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
- (2017) Shirleny R. Cardoso et al. HAEMATOLOGICA
- Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation
- (2017) Rashmi Kanagal-Shamanna et al. HAEMATOLOGICA
- Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
- (2017) Victor B. Pastor et al. HAEMATOLOGICA
- Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel
- (2016) Hartmut Döhner et al. BLOOD
- The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
- (2016) D. A. Arber et al. BLOOD
- Frequent variations in cancer-related genes may play prognostic role in treatment of patients with chronic myeloid leukemia
- (2016) Alexander V. Lavrov et al. BMC GENETICS
- Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation
- (2016) G Berger et al. LEUKEMIA
- Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
- (2016) S R Cardoso et al. LEUKEMIA
- Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS
- (2016) Satoshi Saida et al. PEDIATRIC TRANSPLANTATION
- The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation
- (2016) Roberto Melero et al. Nature Communications
- Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact
- (2016) Evangelos D. Karousis et al. Wiley Interdisciplinary Reviews-RNA
- Disease evolution and outcomes in familial AML with germline CEBPA mutations
- (2015) K. Tawana et al. BLOOD
- Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia
- (2015) J. E. Churpek et al. BLOOD
- Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
- (2015) Chantana Polprasert et al. CANCER CELL
- The conformational plasticity of eukaryotic RNA-dependent ATPases
- (2015) Sevim Ozgur et al. FEBS Journal
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family
- (2015) A. Pathak et al. HAEMATOLOGICA
- Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults
- (2015) Daria V. Babushok et al. LEUKEMIA & LYMPHOMA
- Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies
- (2015) Joseph Saliba et al. NATURE GENETICS
- Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
- (2015) Michael Y Zhang et al. NATURE GENETICS
- Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
- (2015) Leila Noetzli et al. NATURE GENETICS
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family
- (2015) A. Pathak et al. HAEMATOLOGICA
- Mass spectrometry-based relative quantification of proteins in precatalytic and catalytically active spliceosomes by metabolic labeling (SILAC), chemical labeling (iTRAQ), and label-free spectral count
- (2014) C. Schmidt et al. RNA
- NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples
- (2014) Sara Duarte-Pereira et al. Scientific Reports
- The RNA Helicase DHX34 Activates NMD by Promoting a Transition from the Surveillance to the Decay-Inducing Complex
- (2014) Nele Hug et al. Cell Reports
- GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
- (2013) A. P. Hsu et al. BLOOD
- Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein with 13 years difference at onset
- (2013) M. Debeljak et al. HAEMATOLOGICA
- Highly variable clinical manifestations in a large family with a novel GATA2 mutation
- (2013) P G N J Mutsaers et al. LEUKEMIA
- Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
- (2013) NEW ENGLAND JOURNAL OF MEDICINE
- DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans
- (2013) Dasa Longman et al. NUCLEIC ACIDS RESEARCH
- Lnk deficiency partially mitigates hematopoietic stem cell aging
- (2012) Alexey Bersenev et al. AGING CELL
- Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
- (2012) Michael Kirwan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
- (2012) Harriet Holme et al. BRITISH JOURNAL OF HAEMATOLOGY
- Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
- (2012) C. Bodor et al. HAEMATOLOGICA
- Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity
- (2012) Kirby D. Johnson et al. JOURNAL OF CLINICAL INVESTIGATION
- First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation
- (2011) H. Xiao et al. BLOOD
- Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
- (2011) Christopher N Hahn et al. NATURE GENETICS
- Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish
- (2011) Corina Anastasaki et al. NUCLEIC ACIDS RESEARCH
- Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
- (2011) Tom J. Vulliamy et al. PLoS One
- A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals
- (2010) Stephen E. Langabeer et al. EUROPEAN JOURNAL OF HAEMATOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations
- (2009) B. Dumont et al. BLOOD
- High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder
- (2009) C. Preudhomme et al. BLOOD
- Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene
- (2009) Paola Bianchi et al. HUMAN MUTATION
- Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
- (2009) M C J Jongmans et al. LEUKEMIA
- Telomere length measurement by a novel monochrome multiplex quantitative PCR method
- (2009) R. M. Cawthon NUCLEIC ACIDS RESEARCH
- Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
- (2008) C. J. Owen et al. BLOOD
- ExogenousTERCalone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients
- (2008) Michael Kirwan et al. BRITISH JOURNAL OF HAEMATOLOGY
- Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation
- (2008) A Renneville et al. LEUKEMIA
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