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  1. Article ; Online: Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed

    Liu, Tingting / Merguerian, Matthew D / Rowe, Steven P / Pratilas, Christine A / Chen, Allen R / Ladle, Brian H

    Cold Spring Harbor molecular case studies

    2021  Volume 7, Issue 4

    Abstract: Treatment of high-risk neuroblastoma typically incorporates multiagent chemotherapy, surgery, radiation therapy, autologous stem cell transplantation, immunotherapy, and differentiation therapy. The discovery of activating mutations in ALK receptor ... ...

    Abstract Treatment of high-risk neuroblastoma typically incorporates multiagent chemotherapy, surgery, radiation therapy, autologous stem cell transplantation, immunotherapy, and differentiation therapy. The discovery of activating mutations in ALK receptor tyrosine kinase (
    MeSH term(s) Aminopyridines/therapeutic use ; Anaplastic Lymphoma Kinase/antagonists & inhibitors ; Antineoplastic Agents/therapeutic use ; Child, Preschool ; DNA Mutational Analysis ; Drug Resistance, Neoplasm/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Lactams/therapeutic use ; Neuroblastoma/drug therapy ; Neuroblastoma/genetics ; Protein Kinase Inhibitors/therapeutic use ; Protein-Tyrosine Kinases/antagonists & inhibitors ; Proto-Oncogene Proteins/antagonists & inhibitors ; Pyrazoles/therapeutic use ; Recurrence
    Chemical Substances Aminopyridines ; Antineoplastic Agents ; Lactams ; Protein Kinase Inhibitors ; Proto-Oncogene Proteins ; Pyrazoles ; ALK protein, human (EC 2.7.10.1) ; Anaplastic Lymphoma Kinase (EC 2.7.10.1) ; Protein-Tyrosine Kinases (EC 2.7.10.1) ; ROS1 protein, human (EC 2.7.10.1) ; lorlatinib (OSP71S83EU)
    Language English
    Publishing date 2021-08-02
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2835759-0
    ISSN 2373-2873 ; 2373-2873
    ISSN (online) 2373-2873
    ISSN 2373-2873
    DOI 10.1101/mcs.a006064
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

    Yu, Kai / Deuitch, Natalie / Merguerian, Matthew / Cunningham, Lea / Davis, Joie / Bresciani, Erica / Diemer, Jamie / Andrews, Elizabeth / Young, Alice / Donovan, Frank / Sood, Raman / Craft, Kathleen / Chong, Shawn / Chandrasekharappa, Settara / Mullikin, Jim / Liu, Paul P

    Blood advances

    2023  Volume 8, Issue 2, Page(s) 497–511

    Abstract: Abstract: Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural ... ...

    Abstract Abstract: Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural history study for patients with FPDMM. Among 27 families with research genomic data by the end of 2021, 26 different germline RUNX1 variants were detected. Besides missense mutations enriched in Runt homology domain and loss-of-function mutations distributed throughout the gene, splice-region mutations and large deletions were detected in 6 and 7 families, respectively. In 25 of 51 (49%) patients without hematologic malignancy, somatic mutations were detected in at least 1 of the clonal hematopoiesis of indeterminate potential (CHIP) genes or acute myeloid leukemia (AML) driver genes. BCOR was the most frequently mutated gene (in 9 patients), and multiple BCOR mutations were identified in 4 patients. Mutations in 6 other CHIP- or AML-driver genes (TET2, DNMT3A, KRAS, LRP1B, IDH1, and KMT2C) were also found in ≥2 patients without hematologic malignancy. Moreover, 3 unrelated patients (1 with myeloid malignancy) carried somatic mutations in NFE2, which regulates erythroid and megakaryocytic differentiation. Sequential sequencing data from 19 patients demonstrated dynamic changes of somatic mutations over time, and stable clones were more frequently found in older adult patients. In summary, there are diverse types of germline RUNX1 mutations and high frequency of somatic mutations related to clonal hematopoiesis in patients with FPDMM. Monitoring changes in somatic mutations and clinical manifestations prospectively may reveal mechanisms for malignant progression and inform clinical management. This trial was registered at www.clinicaltrials.gov as #NCT03854318.
    MeSH term(s) Humans ; Aged ; Core Binding Factor Alpha 2 Subunit/genetics ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Myeloproliferative Disorders/genetics ; Hematologic Neoplasms/genetics ; Genomics ; Germ Cells/pathology ; Blood Platelet Disorders ; Blood Coagulation Disorders, Inherited
    Chemical Substances Core Binding Factor Alpha 2 Subunit ; RUNX1 protein, human
    Language English
    Publishing date 2023-11-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2915908-8
    ISSN 2473-9537 ; 2473-9529
    ISSN (online) 2473-9537
    ISSN 2473-9529
    DOI 10.1182/bloodadvances.2023011165
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 7153: Show issues Location:
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  3. Article: Genomic Landscape of Patients with Germline

    Yu, Kai / Deuitch, Natalie / Merguerian, Matthew / Cunningham, Lea / Davis, Joie / Bresciani, Erica / Diemer, Jamie / Andrews, Elizabeth / Young, Alice / Donovan, Frank / Sood, Raman / Craft, Kathleen / Chong, Shawn / Chandrasekharappa, Settara / Mullikin, Jim / Liu, Paul P

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Germline : Key points: Comprehensive genomic profile of patients with FPDMM with ... ...

    Abstract Germline
    Key points: Comprehensive genomic profile of patients with FPDMM with germline
    Language English
    Publishing date 2023-01-17
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.17.524290
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Natural history study of patients with familial platelet disorder with associated myeloid malignancy.

    Cunningham, Lea / Merguerian, Matthew / Calvo, Katherine R / Davis, Joie / Deuitch, Natalie T / Dulau-Florea, Alina / Patel, Nisha / Yu, Kai / Sacco, Keith / Bhattacharya, Sumona / Passi, Monica / Ozkaya, Neval / De Leon, Seila / Chong, Shawn / Craft, Kathleen / Diemer, Jamie / Bresciani, Erica / O'Brien, Kevin / Andrews, Elizabeth J /
    Park, Nguyen / Hathaway, Londa / Cowen, Edward W / Heller, Theo / Ryan, Kerry / Barochia, Amisha / Nghiem, Khanh / Niemela, Julie / Rosenzweig, Sergio / Young, David J / Frischmeyer-Guerrerio, Pamela A / Braylan, Raul / Liu, Paul P

    Blood

    2023  Volume 142, Issue 25, Page(s) 2146–2158

    Abstract: Abstract: Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet dysfunction, and a predisposition to hematologic malignancies ( ...

    Abstract Abstract: Deleterious germ line RUNX1 variants cause the autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet dysfunction, and a predisposition to hematologic malignancies (HMs). We launched a FPDMM natural history study and, from January 2019 to December 2021, enrolled 214 participants, including 111 patients with 39 different RUNX1 variants from 45 unrelated families. Seventy of 77 patients had thrombocytopenia, 18 of 18 had abnormal platelet aggregometry, 16 of 35 had decreased platelet dense granules, and 28 of 55 had abnormal bleeding scores. Nonmalignant bone marrows showed increased numbers of megakaryocytes in 12 of 55 patients, dysmegakaryopoiesis in 42 of 55, and reduced cellularity for age in 30 of 55 adult and 17 of 21 pediatric cases. Of 111 patients, 19 were diagnosed with HMs, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, acute lymphoblastic leukemia, and smoldering myeloma. Of those 19, 18 were relapsed or refractory to upfront therapy and referred for stem cell transplantation. In addition, 28 of 45 families had at least 1 member with HM. Moreover, 42 of 45 patients had allergic symptoms, and 24 of 30 had gastrointestinal (GI) symptoms. Our results highlight the importance of a multidisciplinary approach, early malignancy detection, and wider awareness of inherited disorders. This actively accruing, longitudinal study will genotype and phenotype more patients with FPDMM, which may lead to a better understanding of the disease pathogenesis and clinical course, which may then inform preventive and therapeutic interventions. This trial was registered at www.clinicaltrials.gov as #NCT03854318.
    MeSH term(s) Adult ; Humans ; Child ; Core Binding Factor Alpha 2 Subunit/genetics ; Longitudinal Studies ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/therapy ; Leukemia, Myeloid, Acute/complications ; Thrombocytopenia/genetics ; Myeloproliferative Disorders/complications ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/therapy ; Hematologic Neoplasms/complications
    Chemical Substances Core Binding Factor Alpha 2 Subunit
    Language English
    Publishing date 2023-09-22
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2023019746
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.140: Show issues Location:
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    Zs.MO 364: Show issues

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  5. Article: Molecular recognition properties of FN3 monobodies that bind the Src SH3 domain.

    Karatan, Ece / Merguerian, Matthew / Han, Zhaozhong / Scholle, Michael D / Koide, Shohei / Kay, Brian K

    Chemistry & biology

    2004  Volume 11, Issue 6, Page(s) 835–844

    Abstract: We have constructed a phage-displayed library based on the human fibronectin tenth type III domain (FN3) scaffold by randomizing residues in its FG and BC loops. Screening against the SH3 domain of human c-Src yielded six different clones. Five of these ... ...

    Abstract We have constructed a phage-displayed library based on the human fibronectin tenth type III domain (FN3) scaffold by randomizing residues in its FG and BC loops. Screening against the SH3 domain of human c-Src yielded six different clones. Five of these contained proline-rich sequences in their FG loop that resembled class I (i.e., +xxPxxP) peptide ligands for the Src SH3 domain. The sixth clone lacked the proline-rich sequence and showed particularly high binding specificity to the Src SH3 domain among various SH3 domains tested. Competitive binding, loop replacement, and NMR perturbation experiments were conducted to analyze the recognition properties of selected binders. The strongest binder was able to pull down full-length c-Src from murine fibroblast cell extracts, further demonstrating the potential of this scaffold for use as an antibody mimetic.
    MeSH term(s) Animals ; Binding Sites ; Binding, Competitive ; Clone Cells ; Fibronectins/chemistry ; Humans ; Ligands ; Mice ; Models, Molecular ; Molecular Mimicry/physiology ; Peptide Library ; Peptides/chemical synthesis ; Peptides/chemistry ; Peptides/metabolism ; Phosphotransferases/chemistry ; Phosphotransferases/metabolism ; Proline/chemistry ; Protein Structure, Tertiary ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins/chemistry ; Proto-Oncogene Proteins/metabolism ; src Homology Domains/physiology ; src-Family Kinases
    Chemical Substances Fibronectins ; Ligands ; Peptide Library ; Peptides ; Proto-Oncogene Proteins ; Proline (9DLQ4CIU6V) ; Phosphotransferases (EC 2.7.-) ; Protein-Tyrosine Kinases (EC 2.7.10.1) ; CSK tyrosine-protein kinase (EC 2.7.10.2) ; src-Family Kinases (EC 2.7.10.2)
    Language English
    Publishing date 2004-06
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 917827-2
    ISSN 1879-1301 ; 1074-5521
    ISSN (online) 1879-1301
    ISSN 1074-5521
    DOI 10.1016/j.chembiol.2004.04.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4429: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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