LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 131

Search options

  1. Article ; Online: The ASPHO 2024 Distinguished Career Award goes to Dr. David A. Williams.

    Shimamura, Akiko

    Pediatric blood & cancer

    2024  Volume 71, Issue 5, Page(s) e30920

    MeSH term(s) Humans ; United States ; Hematology ; Awards and Prizes ; Psychology
    Language English
    Publishing date 2024-02-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30920
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1131: 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

    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.

  2. Article ; Online: Telomere biology disorders: ends and (genetic) means.

    Shimamura, Akiko

    Blood

    2022  Volume 139, Issue 12, Page(s) 1776–1777

    MeSH term(s) Biology ; Telomerase/genetics ; Telomerase/metabolism ; Telomere/genetics ; Telomere/metabolism
    Chemical Substances Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2022-03-24
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2021014855
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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

    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.

  3. Article ; Online: Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.

    Shimamura, Akiko

    Best practice & research. Clinical haematology

    2021  Volume 34, Issue 1, Page(s) 101252

    Abstract: Identifying germline mutations responsible for genetic predisposition to myeloid malignancies would be useful in creating opportunities for early intervention. Recent genomic and functional studies in Shwachman-Diamond syndrome (SDS) have deciphered ... ...

    Abstract Identifying germline mutations responsible for genetic predisposition to myeloid malignancies would be useful in creating opportunities for early intervention. Recent genomic and functional studies in Shwachman-Diamond syndrome (SDS) have deciphered distinct roles for heterozygous mutations in EIF6 and TP53 in alleviating germline genetic stress and a role for biallelic TP53 mutations in malignant progression. This review has summarized evidence for a mechanistic framework underlying SDS that can potentially be applied to the study of other germline myelodysplastic syndromes (MDS) predisposition disorders.
    MeSH term(s) Genetic Predisposition to Disease ; Humans ; Leukemia, Myeloid, Acute ; Mutation ; Myelodysplastic Syndromes/genetics ; Myeloproliferative Disorders ; Shwachman-Diamond Syndrome
    Language English
    Publishing date 2021-02-06
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2048027-1
    ISSN 1532-1924 ; 1521-6926
    ISSN (online) 1532-1924
    ISSN 1521-6926
    DOI 10.1016/j.beha.2021.101252
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Se 1029: 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

    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.

  4. Article: Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.

    Avagyan, Serine / Shimamura, Akiko

    Frontiers in oncology

    2022  Volume 12, Page(s) 813149

    Abstract: Pediatric myelodysplastic syndromes (MDS) often raise concern for an underlying germline predisposition to hematologic malignancies, referred to as germline predisposition herein. With the availability of genetic testing, it is now clear that syndromic ... ...

    Abstract Pediatric myelodysplastic syndromes (MDS) often raise concern for an underlying germline predisposition to hematologic malignancies, referred to as germline predisposition herein. With the availability of genetic testing, it is now clear that syndromic features may be lacking in patients with germline predisposition. Many genetic lesions underlying germline predisposition may also be mutated somatically in
    Language English
    Publishing date 2022-03-09
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2022.813149
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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.

  5. Article ; Online: Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

    Reilly, Christopher R / Shimamura, Akiko

    Blood

    2022  Volume 141, Issue 13, Page(s) 1513–1523

    Abstract: Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. The pathobiology of SDS results from impaired ribosomal ... ...

    Abstract Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. The pathobiology of SDS results from impaired ribosomal maturation due to the deficiency of SBDS and the inability to evict the antiassociation factor eIF6 from the 60S ribosomal subunit. Clinical outcomes for patients with SDS who develop myeloid malignancies are extremely poor because of high treatment-related toxicities and a high rate of refractory disease/relapse even after allogeneic hematopoietic stem cell transplant (HSCT). Registry data indicate that outcomes are improved for patients with SDS who undergo routine bone marrow surveillance and receive an HSCT before developing an overt malignancy. However, the optimal approach to hematologic surveillance and the timing of HSCT for patients with SDS is not clearly established. Recent studies have elucidated distinct patterns of somatic blood mutations in patients with SDS that either alleviate the ribosome defect via somatic rescue (heterozygous EIF6 inactivation) or disrupt cellular checkpoints, resulting in increased leukemogenic potential (heterozygous TP53 inactivation). Genomic analysis revealed that most myeloid malignancies in patients with SDS have biallelic loss-of-function TP53 mutations. Single-cell DNA sequencing of SDS bone marrow samples can detect premalignant biallelic TP53-mutated clones before clinical diagnosis, suggesting that molecular surveillance may enhance the detection of incipient myeloid malignancies when HSCT may be most effective. Here, we review the clinical, genetic, and biologic features of SDS. In addition, we present evidence supporting the hematologic surveillance for patients with SDS that incorporates clinical, pathologic, and molecular data to risk stratify patients and prioritize transplant evaluation for patients with SDS with high-risk features.
    MeSH term(s) Humans ; Shwachman-Diamond Syndrome ; Bone Marrow Diseases/genetics ; Bone Marrow Diseases/therapy ; Bone Marrow Diseases/diagnosis ; Exocrine Pancreatic Insufficiency/genetics ; Exocrine Pancreatic Insufficiency/therapy ; Lipomatosis/genetics ; Lipomatosis/therapy ; Neoplasm Recurrence, Local ; Myeloproliferative Disorders ; Disease Susceptibility
    Language English
    Publishing date 2022-11-30
    Publishing country United States
    Document type Review ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2022017739
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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

    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.

  6. Article ; Online: Aplastic anemia and clonal evolution: germ line and somatic genetics.

    Shimamura, Akiko

    Hematology. American Society of Hematology. Education Program

    2016  Volume 2016, Issue 1, Page(s) 74–82

    Abstract: Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform ... ...

    Abstract Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF. Most germ line genetic BMF disorders are characterized by a high propensity to develop MDS or AML. Many affected patients lack the physical stigmata traditionally associated with the inherited marrow failure syndromes. Although any single inherited marrow failure disorder is rare, multiplexed genetic sequencing that allows simultaneous evaluation of marrow failure genes en masse demonstrated that, as a group, these inherited disorders compose a significant subset (5% to 10%) of patients with BMF. Early diagnosis of a germ line genetic marrow failure disorder allows individualized monitoring and tailored therapy. Recent studies of somatic variants in marrow failure revealed a high frequency of clonal hematopoiesis with the acquisition of mutations in genes associated with MDS or AML. Investigation of somatic mutations in marrow failure revealed important insights into the mechanisms promoting clonal disease but also raised additional questions. This review will focus on the evaluation and implications of germ line and somatic mutations for the development of clonal disorders in patients with BMF. Challenges and limitations of clinical genetic testing will be explored.
    MeSH term(s) Anemia, Aplastic/diagnosis ; Anemia, Aplastic/genetics ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Germ-Line Mutation ; Humans ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics
    Language English
    Publishing date 2016-12-02
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 1520-4383
    ISSN (online) 1520-4383
    DOI 10.1182/asheducation-2016.1.74
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Article ; Online: The Times, They Are A-Changing: The Impact of Next-Generation Sequencing on Diagnosis, Classification, and Prognostication of Myeloid Malignancies With Focus on Myelodysplastic Syndrome, AML, and Germline Predisposition.

    Gurbuxani, Sandeep / Hochman, Michael J / DeZern, Amy E / Shimamura, Akiko

    American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting

    2023  Volume 43, Page(s) e390026

    Abstract: Myeloid malignancies are a manifestation of clonal expansion of hematopoietic cells driven by somatic genetic alterations that may arise in a potential background of deleterious germline variants. As next-generation sequencing technology has become more ... ...

    Abstract Myeloid malignancies are a manifestation of clonal expansion of hematopoietic cells driven by somatic genetic alterations that may arise in a potential background of deleterious germline variants. As next-generation sequencing technology has become more accessible, real-world experience has allowed integration of molecular genomic data with morphology, immunophenotype, and conventional cytogenetics to refine our understanding of myeloid malignancies. This has prompted revisions in the classification and the prognostication schema of myeloid malignancies and germline predisposition to hematologic malignancies. This review provides an overview of significant changes in the recently published classifications of AML and myelodysplastic syndrome, emerging prognostic scoring, and the role of germline deleterious variants in predisposing to MDS and AML.
    MeSH term(s) Humans ; Myelodysplastic Syndromes ; Myeloproliferative Disorders ; High-Throughput Nucleotide Sequencing ; Hematologic Neoplasms ; Disease Susceptibility ; Germ Cells ; Leukemia, Myeloid, Acute
    Language English
    Publishing date 2023-06-12
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 2431126-1
    ISSN 1548-8756 ; 1548-8748
    ISSN (online) 1548-8756
    ISSN 1548-8748
    DOI 10.1200/EDBK_390026
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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.

  8. Article ; Online: Genetic predisposition to MDS: diagnosis and management.

    Furutani, Elissa / Shimamura, Akiko

    Hematology. American Society of Hematology. Education Program

    2019  Volume 2019, Issue 1, Page(s) 110–119

    Abstract: Myelodysplastic syndromes (MDS) are a heterogeneous group of disorders characterized by clonal hematopoiesis with a propensity to evolve into acute myeloid leukemia. MDS presenting in children and young adults is associated with features clinically and ... ...

    Abstract Myelodysplastic syndromes (MDS) are a heterogeneous group of disorders characterized by clonal hematopoiesis with a propensity to evolve into acute myeloid leukemia. MDS presenting in children and young adults is associated with features clinically and biologically distinct from MDS arising in older adults. MDS presenting in children and young adults is associated with a higher likelihood of an underlying genetic predisposition; however, genetic predisposition is increasingly recognized in a subset of older adults. The diagnosis of a genetic predisposition to MDS informs clinical care and treatment selection. Early diagnosis allows a tailored approach to management and surveillance. Genetic testing now offers a powerful diagnostic approach but also poses new challenges and caveats. Clinical expertise in these disorders together with scientific expertise regarding the affected genes is essential for diagnosis. Understanding the basic mechanisms of genetic predisposition to myeloid malignancies may inform surveillance strategies and lead to novel therapies. The cases presented in this article illustrate challenges to the diagnosis of germline genetic predisposition to MDS and how the diagnosis affects clinical management and treatment.
    MeSH term(s) Adolescent ; Adult ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation/genetics ; Humans ; Male ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/therapy
    Language English
    Publishing date 2019-12-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2084287-9
    ISSN 1520-4383 ; 1520-4391
    ISSN (online) 1520-4383
    ISSN 1520-4391
    DOI 10.1182/hematology.2019000021
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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.

  9. Article ; Online: Genetic predisposition to MDS: clinical features and clonal evolution.

    Kennedy, Alyssa L / Shimamura, Akiko

    Blood

    2019  Volume 133, Issue 10, Page(s) 1071–1085

    Abstract: Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition. Germline ... ...

    Abstract Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition. Germline predisposition is increasingly recognized in MDS presenting at older ages as well. Although each individual genetic disorder is rare, as a group, the genetic MDS disorders account for a significant subset of MDS in children and young adults. Because many patients lack overt syndromic features, genetic testing plays an important role in the diagnostic evaluation. This review provides an overview of syndromes associated with genetic predisposition to MDS, discusses implications for clinical evaluation and management, and explores scientific insights gleaned from the study of MDS predisposition syndromes. The effects of germline genetic context on the selective pressures driving somatic clonal evolution are explored. Elucidation of the molecular and genetic pathways driving clonal evolution may inform surveillance and risk stratification, and may lead to the development of novel therapeutic strategies.
    MeSH term(s) Adult ; Aged ; Anemia, Diamond-Blackfan/genetics ; Bone Marrow Diseases/genetics ; Child ; Clonal Evolution ; Dyskeratosis Congenita/genetics ; Exocrine Pancreatic Insufficiency/genetics ; Fanconi Anemia/genetics ; GATA2 Transcription Factor/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Intracellular Signaling Peptides and Proteins ; Li-Fraumeni Syndrome/genetics ; Lipomatosis/genetics ; Middle Aged ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Proteins/genetics ; Risk ; Shwachman-Diamond Syndrome ; Thrombocytopenia/complications ; Young Adult
    Chemical Substances GATA2 Transcription Factor ; GATA2 protein, human ; Intracellular Signaling Peptides and Proteins ; Proteins ; SAMD9 protein, human
    Language English
    Publishing date 2019-01-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2018-10-844662
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    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

    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.

  10. Article ; Online: It's ALL in the Family: IKZF1 and Hereditary Leukemia.

    Kamihara, Junne / Shimamura, Akiko

    Cancer cell

    2018  Volume 33, Issue 5, Page(s) 798–800

    Abstract: IKZF1 plays an essential role in lymphopoiesis, and somatic IKZF1 variants in acute lymphoblastic leukemia (ALL) are associated with poor prognosis. In this issue of Cancer Cell, Churchman et al. add to the list of leukemia predisposition genes with the ... ...

    Abstract IKZF1 plays an essential role in lymphopoiesis, and somatic IKZF1 variants in acute lymphoblastic leukemia (ALL) are associated with poor prognosis. In this issue of Cancer Cell, Churchman et al. add to the list of leukemia predisposition genes with the identification and characterization of germline IKZF1 variants in childhood ALL.
    MeSH term(s) Child ; Genetic Variation ; Genotype ; Germ Cells ; Humans ; Ikaros Transcription Factor/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Chemical Substances IKZF1 protein, human ; Ikaros Transcription Factor (148971-36-2)
    Language English
    Publishing date 2018-05-15
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2078448-X
    ISSN 1878-3686 ; 1535-6108
    ISSN (online) 1878-3686
    ISSN 1535-6108
    DOI 10.1016/j.ccell.2018.04.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5650: 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 104: Show issues

    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.

To top