LIVIVO - Search results -

Search results

Result 1 - 10 of total 59

Article ; Online: The 10

Kan, Winnie L / McClure, Barbara J / Hahn, Christopher N / Powell, Jason A

2024 Volume 15, Issue 3, Page(s) 230

MeSH term(s)	Humans ; Signal Transduction ; Neoplasms/genetics ; Medicine
Language	English
Publishing date	2024-03-21
Publishing country	England
Document type	Journal Article
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-024-06614-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.

Feurstein, Simone / Hahn, Christopher N / Mehta, Nikita / Godley, Lucy A

Genetics in medicine : official journal of the American College of Medical Genetics

2022 Volume 24, Issue 4, Page(s) 931–954

Abstract: Purpose: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for germline variant interpretation are implemented as a broad framework by standardizing variant interpretation. These rules were ... ...

Abstract	Purpose: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for germline variant interpretation are implemented as a broad framework by standardizing variant interpretation. These rules were designed to be specified, but this process has not been performed for most of the 200 genes associated with inherited hematopoietic malignancies, bone marrow failure, and cytopenias. Because guidelines on how to perform these gene specifications are lacking, variant interpretation is less reliable and reproducible. Methods: We have used a variety of methods such as calculations of minor allele frequencies, quasi-case-control studies to establish thresholds, proband counting, and plotting of receiver operating characteristic curves to compare different in silico prediction tools to design recommendations for variant interpretation. Results: We herein provide practical recommendations for the creation of thresholds for minor allele frequencies, in silico predictions, counting of probands, identification of functional domains with minimal benign variation, use of constraint Z-scores and functional evidence, prediction of nonsense-mediated decay, and assessment of phenotype specificity. Conclusion: These guidelines can be used by anyone interpreting variants associated with inherited hematopoietic malignancies, bone marrow failure, and cytopenias to develop criteria for reliable, accurate, and reproducible germline variant interpretation.
MeSH term(s)	Bone Marrow Failure Disorders/genetics ; Genetic Testing/methods ; Genetic Variation ; Genome, Human ; Germ Cells ; Hematologic Neoplasms/genetics ; Humans
Language	English
Publishing date	2022-01-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2021.12.008
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5059: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.

Baranwal, Anmol / Hahn, Christopher N / Shah, Mithun Vinod / Hiwase, Devendra K

Current hematologic malignancy reports

2022 Volume 17, Issue 6, Page(s) 254–265

Abstract: Purpose of review: Therapy-related myeloid neoplasms (t-MNs) are aggressive leukemias that develop following exposure to DNA-damaging agents. A subset of patients developing t-MN may have an inherited susceptibility to develop myeloid neoplasia. Herein, ...

Abstract	Purpose of review: Therapy-related myeloid neoplasms (t-MNs) are aggressive leukemias that develop following exposure to DNA-damaging agents. A subset of patients developing t-MN may have an inherited susceptibility to develop myeloid neoplasia. Herein, we review studies reporting t-MN and their association with a germline or inherited predisposition. Recent findings: Emerging evidence suggests that development of t-MN is the result of complex interactions including generation of somatic variants in hematopoietic stem cells and/or clonal selection pressure exerted by the DNA-damaging agents, and immune evasion on top of any inherited genetic susceptibility. Conventionally, alkylating agents, topoisomerase inhibitors, and radiation have been associated with t-MN. Recently, newer modalities including poly (ADP-ribose) polymerase inhibitors (PARPi) and peptide receptor radionucleotide therapy (PRRT) are associated with t-MN. At the same time, the role of pathogenic germline variants (PGVs) in genes such as BRCA1/2, BARD1, or TP53 on the risk of t-MN is being explored. Moreover, studies have shown that while cytotoxic therapy increases the risk of developing myeloid neoplasia, it may be exposing the vulnerability of an underlying germline predisposition. t-MN remains a disease with poor prognosis. Studies are needed to better define an individual's inherited neoplastic susceptibility which will help predict the risk of myeloid neoplasia in the future. Understanding the genes driving the inherited neoplastic susceptibility will lead to better patient- and cancer-specific management including choice of therapeutic regimen to prevent, or at least delay, development of myeloid neoplasia after treatment of a prior malignancy.
MeSH term(s)	Humans ; Neoplasms, Second Primary/genetics ; Neoplasms, Second Primary/therapy ; Genetic Predisposition to Disease ; Myeloproliferative Disorders/pathology ; Hematopoietic Stem Cells/pathology ; Germ Cells
Language	English
Publishing date	2022-08-20
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2229765-0
ISSN	1558-822X ; 1558-8211
ISSN (online)	1558-822X
ISSN	1558-8211
DOI	10.1007/s11899-022-00676-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6332: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Brown, Anna L / Hahn, Christopher N / Scott, Hamish S

Blood

2020 Volume 136, Issue 1, Page(s) 24–35

Abstract: Recognition that germline mutations can predispose individuals to blood cancers, often presenting as secondary leukemias, has largely been driven in the last 20 years by studies of families with inherited mutations in the myeloid transcription factors ( ... ...

Abstract	Recognition that germline mutations can predispose individuals to blood cancers, often presenting as secondary leukemias, has largely been driven in the last 20 years by studies of families with inherited mutations in the myeloid transcription factors (TFs) RUNX1, GATA2, and CEBPA. As a result, in 2016, classification of myeloid neoplasms with germline predisposition for each of these and other genes was added to the World Health Organization guidelines. The incidence of germline mutation carriers in the general population or in various clinically presenting patient groups remains poorly defined for reasons including that somatic mutations in these genes are common in blood cancers, and our ability to distinguish germline (inherited or de novo) and somatic mutations is often limited by the laboratory analyses. Knowledge of the regulation of these TFs and their mutant alleles, their interaction with other genes and proteins and the environment, and how these alter the clinical presentation of patients and their leukemias is also incomplete. Outstanding questions that remain for patients with these germline mutations or their treating clinicians include: What is the natural course of the disease? What other symptoms may I develop and when? Can you predict them? Can I prevent them? and What is the best treatment? The resolution of many of the remaining clinical and biological questions and effective evidence-based treatment of patients with these inherited mutations will depend on worldwide partnerships among patients, clinicians, diagnosticians, and researchers to aggregate sufficient longitudinal clinical and laboratory data and integrate these data with model systems.
MeSH term(s)	Age of Onset ; Blood Cell Count ; CCAAT-Enhancer-Binding Proteins/genetics ; Core Binding Factor Alpha 2 Subunit/genetics ; Disease Management ; Early Detection of Cancer ; Forecasting ; GATA2 Transcription Factor/genetics ; Genes, Neoplasm ; Genetic Counseling ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/epidemiology ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/therapy ; Myelodysplastic Syndromes/genetics ; Neoplasms, Second Primary/genetics ; Penetrance ; Prognosis
Chemical Substances	CCAAT-Enhancer-Binding Proteins ; CEBPA protein, human ; Core Binding Factor Alpha 2 Subunit ; GATA2 Transcription Factor ; GATA2 protein, human ; RUNX1 protein, human
Language	English
Publishing date	2020-05-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2019000937
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella, Jiarna R / Homan, Claire C / Arts, Peer / Brown, Anna L / Scott, Hamish S / Hahn, Christopher N

Frontiers in oncology

2023 Volume 13, Page(s) 1183318

Abstract: Transcription factors (TFs) play a critical role as key mediators of a multitude of developmental pathways, with highly regulated and tightly organized networks crucial for determining both the timing and pattern of tissue development. TFs can act as ... ...

Abstract	Transcription factors (TFs) play a critical role as key mediators of a multitude of developmental pathways, with highly regulated and tightly organized networks crucial for determining both the timing and pattern of tissue development. TFs can act as master regulators of both primitive and definitive hematopoiesis, tightly controlling the behavior of hematopoietic stem and progenitor cells (HSPCs). These networks control the functional regulation of HSPCs including self-renewal, proliferation, and differentiation dynamics, which are essential to normal hematopoiesis. Defining the key players and dynamics of these hematopoietic transcriptional networks is essential to understanding both normal hematopoiesis and how genetic aberrations in TFs and their networks can predispose to hematopoietic disease including bone marrow failure (BMF) and hematological malignancy (HM). Despite their multifaceted and complex involvement in hematological development, advances in genetic screening along with elegant multi-omics and model system studies are shedding light on how hematopoietic TFs interact and network to achieve normal cell fates and their role in disease etiology. This review focuses on TFs which predispose to BMF and HM, identifies potential novel candidate predisposing TF genes, and examines putative biological mechanisms leading to these phenotypes. A better understanding of the genetics and molecular biology of hematopoietic TFs, as well as identifying novel genes and genetic variants predisposing to BMF and HM, will accelerate the development of preventative strategies, improve clinical management and counseling, and help define targeted treatments for these diseases.
Language	English
Publishing date	2023-06-12
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2649216-7
ISSN	2234-943X
ISSN	2234-943X
DOI	10.3389/fonc.2023.1183318
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Spliceosome mutations in hematopoietic malignancies.

Hahn, Christopher N / Scott, Hamish S

Nature genetics

2011 Volume 44, Issue 1, Page(s) 9–10

Abstract: Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome ( ... ...

Abstract	Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).
MeSH term(s)	Alternative Splicing ; Hematologic Neoplasms/genetics ; Humans ; Mutation ; Nuclear Proteins/genetics ; Phosphoproteins/genetics ; RNA Splicing Factors ; Ribonucleoprotein, U2 Small Nuclear/genetics ; Ribonucleoproteins/genetics ; Spliceosomes/genetics ; Splicing Factor U2AF
Chemical Substances	Nuclear Proteins ; Phosphoproteins ; RNA Splicing Factors ; Ribonucleoprotein, U2 Small Nuclear ; Ribonucleoproteins ; SF3B1 protein, human ; Splicing Factor U2AF ; U2AF1 protein, human
Language	English
Publishing date	2011-12-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.1045
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3613: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 46: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms.

Blood cancer journal

2023 Volume 13, Issue 1, Page(s) 51

Abstract: Revised diagnostic criteria for myeloid neoplasms (MN) issued by the International Consensus Classification (ICC) and the World Health Organization (WHO) recommended major change pertaining to TP53-mutated ( ... ...

Abstract	Revised diagnostic criteria for myeloid neoplasms (MN) issued by the International Consensus Classification (ICC) and the World Health Organization (WHO) recommended major change pertaining to TP53-mutated (TP53
MeSH term(s)	Aged ; Female ; Humans ; Male ; Middle Aged ; Alleles ; Gene Frequency ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/therapy ; Mutation ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/therapy ; Prognosis ; Retrospective Studies ; Tumor Suppressor Protein p53/genetics
Chemical Substances	TP53 protein, human ; Tumor Suppressor Protein p53
Language	English
Publishing date	2023-04-11
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2600560-8
ISSN	2044-5385 ; 2044-5385
ISSN (online)	2044-5385
ISSN	2044-5385
DOI	10.1038/s41408-023-00821-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Myeloid neoplasms with germline DDX41 mutation.

Cheah, Jesse J C / Hahn, Christopher N / Hiwase, Devendra K / Scott, Hamish S / Brown, Anna L

International journal of hematology

2017 Volume 106, Issue 2, Page(s) 163–174

Abstract: Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift ... ...

Abstract	Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift mutations suggesting loss of function with DDX41 acting as a tumor suppressor, and there is a common somatic missense mutation found in a majority of germline mutated tumors. Clinically, DDX41 mutations lead to development of high-risk MDS at an age similar to that observed in sporadic cohorts, presenting a unique challenge to hematologists in recognizing the familial context. Functionally, DDX41 has been shown to contribute to multiple pathways and processes including mRNA splicing, innate immunity and rRNA processing. Mutations in DDX41 result in aberrations to each of these in ways that could potentially impact on tumorigenesis-initiation, maintenance or progression. This review discusses the various molecular, clinical and biological aspects of myeloid malignancy predisposition due to DDX41 mutation and highlights how each of these suggest potential therapeutic opportunities through the use of pathway-specific inhibitors.
MeSH term(s)	Carcinogenesis/genetics ; DEAD-box RNA Helicases/chemistry ; DEAD-box RNA Helicases/genetics ; DEAD-box RNA Helicases/physiology ; Genes, Tumor Suppressor ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Humans ; Leukemia, Myeloid, Acute/genetics ; Myelodysplastic Syndromes/genetics ; RNA Splicing/genetics ; RNA, Messenger/genetics
Chemical Substances	RNA, Messenger ; DDX41 protein, human (EC 3.6.1.-) ; DEAD-box RNA Helicases (EC 3.6.4.13)
Language	English
Publishing date	2017-08
Publishing country	Japan
Document type	Journal Article ; Review
ZDB-ID	1076875-0
ISSN	1865-3774 ; 0917-1258 ; 0925-5710
ISSN (online)	1865-3774
ISSN	0917-1258 ; 0925-5710
DOI	10.1007/s12185-017-2260-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 269: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features.

Carruthers, Vickyanne / Nicola, Mario / Venugopal, Parvathy / Hahn, Christopher N / Scott, Hamish S / Revesz, Tamas

Journal of paediatrics and child health

2017 Volume 53, Issue 10, Page(s) 1018–1020

MeSH term(s)	Diagnosis, Differential ; Down Syndrome/blood ; Down Syndrome/diagnosis ; Humans ; Infant, Newborn ; Male ; Myeloproliferative Disorders/blood ; Myeloproliferative Disorders/diagnosis ; Outcome Assessment (Health Care) ; Watchful Waiting
Language	English
Publishing date	2017-07-04
Publishing country	Australia
Document type	Case Reports
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.13628
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 227: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy.

Hahn, Christopher N / Venugopal, Parvathy / Scott, Hamish S / Hiwase, Devendra K

Immunological reviews

2015 Volume 263, Issue 1, Page(s) 257–278

Abstract: Differential splicing contributes to the vast complexity of mRNA transcripts and protein isoforms that are necessary for cellular homeostasis and response to developmental cues and external signals. The hematopoietic system provides an exquisite example ... ...

Abstract	Differential splicing contributes to the vast complexity of mRNA transcripts and protein isoforms that are necessary for cellular homeostasis and response to developmental cues and external signals. The hematopoietic system provides an exquisite example of this. Recently, discovery of mutations in components of the spliceosome in various hematopoietic malignancies (HMs) has led to an explosion in knowledge of the role of splicing and splice factors in HMs and other cancers. A better understanding of the mechanisms by which alternative splicing and aberrant splicing contributes to the leukemogenic process will enable more efficacious targeted approaches to tackle these often difficult to treat diseases. The clinical implications are only just starting to be realized with novel drug targets and therapeutic strategies open to exploitation for patient benefit.
MeSH term(s)	Alternative Splicing/genetics ; Animals ; Carcinogenesis/genetics ; Hematologic Neoplasms/drug therapy ; Hematologic Neoplasms/genetics ; Humans ; Molecular Targeted Therapy ; Mutation/genetics ; Nuclear Proteins/genetics ; Phosphoproteins/genetics ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA Splice Sites/genetics ; RNA Splicing Factors ; RNA, Messenger/genetics ; Ribonucleoprotein, U2 Small Nuclear/genetics ; Ribonucleoproteins/genetics ; Serine-Arginine Splicing Factors ; Splicing Factor U2AF
Chemical Substances	Nuclear Proteins ; Phosphoproteins ; Protein Isoforms ; RNA Splice Sites ; RNA Splicing Factors ; RNA, Messenger ; Ribonucleoprotein, U2 Small Nuclear ; Ribonucleoproteins ; SF3B1 protein, human ; Splicing Factor U2AF ; U2AF1 protein, human ; SRSF2 protein, human (147153-65-9) ; Serine-Arginine Splicing Factors (170974-22-8)
Language	English
Publishing date	2015-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	391796-4
ISSN	1600-065X ; 0105-2896
ISSN (online)	1600-065X
ISSN	0105-2896
DOI	10.1111/imr.12241
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Se 160: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito