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  1. Article ; Online: Solid pseudopapillary tumor of pancreas: A case report and review of genetic features.

    Tian, Gengwen / Savell, Van Henry / Esquilin, Jose M

    Pediatric blood & cancer

    2018  Volume 65, Issue 6, Page(s) e26980

    MeSH term(s) Adolescent ; Carcinoma, Papillary/genetics ; Carcinoma, Papillary/pathology ; Female ; Glial Cell Line-Derived Neurotrophic Factor/genetics ; Humans ; Mutation ; Pancreatic Neoplasms/genetics ; Pancreatic Neoplasms/pathology ; Prognosis ; beta Catenin/genetics
    Chemical Substances CTNNB1 protein, human ; GDNF protein, human ; Glial Cell Line-Derived Neurotrophic Factor ; beta Catenin
    Language English
    Publishing date 2018-02-05
    Publishing country United States
    Document type Case Reports ; Letter ; Review
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.26980
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1131: Show issues Location:
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  2. Article ; Online: Molecular Diagnosis Is Vital to the Accurate Classification and Management of Thrombotic Thrombocytopenic Purpura in Children.

    Karsenty, Cecile L / Kirk, Susan E / Helber, Hannah L / Esquilin, Jose M / Despotovic, Jenny M / Grimes, Amanda B

    Frontiers in immunology

    2022  Volume 13, Page(s) 836960

    Abstract: Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disease, presenting a myriad of diagnostic and management challenges in children. Here, we provide a review of this disorder and discuss 2 exemplary cases of ...

    Abstract Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disease, presenting a myriad of diagnostic and management challenges in children. Here, we provide a review of this disorder and discuss 2 exemplary cases of TTP occurring in adolescents, emphasizing the need for consideration of late-onset congenital TTP (cTTP). We demonstrate the importance of early confirmation of ADAMTS13 enzyme deficiency and the presence or absence of ADAMTS13 inhibitor in order to rapidly initiate the appropriate life-saving therapies. Ultimately, molecular testing is paramount to distinguishing between congenital and acquired immune-mediated TTP.
    MeSH term(s) Adolescent ; Child ; Humans ; Purpura, Thrombotic Thrombocytopenic/diagnosis ; Purpura, Thrombotic Thrombocytopenic/genetics ; Purpura, Thrombotic Thrombocytopenic/therapy
    Language English
    Publishing date 2022-04-11
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2022.836960
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Detection of mutations in antigenic regions of rotavirus viral proteins 4 and 7 in a child with chronic shedding of rotavirus vaccine-type strain.

    Top, Karina A / Esquilin, Jose M / Yen, Catherine / Esona, Mathew D / Gentsch, Jon R / Bhatia, Monica / Larussa, Philip

    The Pediatric infectious disease journal

    2011  Volume 30, Issue 7, Page(s) 630

    MeSH term(s) Antigens, Viral/genetics ; Antigens, Viral/immunology ; Capsid Proteins/genetics ; Capsid Proteins/immunology ; Diarrhea/virology ; Feces/virology ; Female ; Humans ; Infant ; Mutant Proteins/genetics ; Mutant Proteins/immunology ; Mutation, Missense ; Rotavirus Infections/virology ; Rotavirus Vaccines/administration & dosage ; Rotavirus Vaccines/adverse effects ; Severe Combined Immunodeficiency/complications ; Severe Combined Immunodeficiency/diagnosis ; Virus Shedding
    Chemical Substances Antigens, Viral ; Capsid Proteins ; Mutant Proteins ; Rotavirus Vaccines ; VP4 protein, Rotavirus ; VP7 protein, Rotavirus
    Language English
    Publishing date 2011-07
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0b013e31821c38f2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1852: Show issues Location:
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  4. Article ; Online: Zfx facilitates tumorigenesis caused by activation of the Hedgehog pathway.

    Palmer, Colin J / Galan-Caridad, Jose M / Weisberg, Stuart P / Lei, Liang / Esquilin, Jose M / Croft, Gist F / Wainwright, Brandon / Canoll, Peter / Owens, David M / Reizis, Boris

    Cancer research

    2014  Volume 74, Issue 20, Page(s) 5914–5924

    Abstract: The Hedgehog (Hh) signaling pathway regulates normal development and cell proliferation in metazoan organisms, but its aberrant activation can promote tumorigenesis. Hh-induced tumors arise from various tissues and they may be indolent or aggressive, as ... ...

    Abstract The Hedgehog (Hh) signaling pathway regulates normal development and cell proliferation in metazoan organisms, but its aberrant activation can promote tumorigenesis. Hh-induced tumors arise from various tissues and they may be indolent or aggressive, as is the case with skin basal cell carcinoma (BCC) or cerebellar medulloblastoma, respectively. Little is known about common cell-intrinsic factors that control the development of such diverse Hh-dependent tumors. Transcription factor Zfx is required for the self-renewal of hematopoietic and embryonic stem cells, as well as for the propagation of acute myeloid and T-lymphoblastic leukemias. We report here that Zfx facilitates the development of experimental BCC and medulloblastoma in mice initiated by deletion of the Hh inhibitory receptor Ptch1. Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development. In contrast, Zfx was dispensable for tumorigenesis in a mouse model of glioblastoma. We used genome-wide expression and chromatin-binding analysis in a human medulloblastoma cell line to characterize direct, evolutionarily conserved targets of Zfx, identifying Dis3L and Ube2j1 as two targets required for the growth of the human medulloblastoma cells. Our results establish Zfx as a common cell-intrinsic regulator of diverse Hh-induced tumors, with implications for the definition of new therapeutic targets in these malignancies.
    MeSH term(s) Animals ; Carcinogenesis/genetics ; Carcinoma, Basal Cell/genetics ; Carcinoma, Basal Cell/metabolism ; Carcinoma, Basal Cell/pathology ; Cell Line, Tumor ; Cell Proliferation ; Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/metabolism ; Gene Knockout Techniques ; Hedgehog Proteins/metabolism ; Humans ; Kruppel-Like Transcription Factors/physiology ; Male ; Medulloblastoma/genetics ; Medulloblastoma/metabolism ; Mice, Knockout ; Patched Receptors ; Patched-1 Receptor ; Receptors, Cell Surface/genetics ; Ribonucleases/metabolism ; Signal Transduction ; Skin Neoplasms/genetics ; Skin Neoplasms/metabolism ; Skin Neoplasms/pathology ; Ubiquitin-Conjugating Enzymes/metabolism
    Chemical Substances Hedgehog Proteins ; Kruppel-Like Transcription Factors ; PTCH1 protein, human ; Patched Receptors ; Patched-1 Receptor ; Ptch1 protein, mouse ; Receptors, Cell Surface ; zinc finger protein, X-linked ; UBE2J1 protein, human (EC 2.3.2.23) ; Ubiquitin-Conjugating Enzymes (EC 2.3.2.23) ; DIS3L protein, human (EC 3.1.-) ; Ribonucleases (EC 3.1.-)
    Language English
    Publishing date 2014-08-27
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1432-1
    ISSN 1538-7445 ; 0008-5472
    ISSN (online) 1538-7445
    ISSN 0008-5472
    DOI 10.1158/0008-5472.CAN-14-0834
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: ZFX controls propagation and prevents differentiation of acute T-lymphoblastic and myeloid leukemia.

    Weisberg, Stuart P / Smith-Raska, Matthew R / Esquilin, Jose M / Zhang, Ji / Arenzana, Teresita L / Lau, Colleen M / Churchill, Michael / Pan, Haiyan / Klinakis, Apostolos / Dixon, Jack E / Mirny, Leonid A / Mukherjee, Siddhartha / Reizis, Boris

    Cell reports

    2014  Volume 6, Issue 3, Page(s) 528–540

    Abstract: Tumor-propagating cells in acute leukemia maintain a stem/progenitor-like immature phenotype and proliferative capacity. Acute myeloid leukemia (AML) and acute T-lymphoblastic leukemia (T-ALL) originate from different lineages through distinct oncogenic ... ...

    Abstract Tumor-propagating cells in acute leukemia maintain a stem/progenitor-like immature phenotype and proliferative capacity. Acute myeloid leukemia (AML) and acute T-lymphoblastic leukemia (T-ALL) originate from different lineages through distinct oncogenic events such as MLL fusions and Notch signaling, respectively. We found that Zfx, a transcription factor that controls hematopoietic stem cell self-renewal, controls the initiation and maintenance of AML caused by MLL-AF9 fusion and of T-ALL caused by Notch1 activation. In both leukemia types, Zfx prevents differentiation and activates gene sets characteristic of immature cells of the respective lineages. In addition, endogenous Zfx contributes to gene induction and transformation by Myc overexpression in myeloid progenitors. Key Zfx target genes include the mitochondrial enzymes Ptpmt1 and Idh2, whose overexpression partially rescues the propagation of Zfx-deficient AML. These results show that distinct leukemia types maintain their undifferentiated phenotype and self-renewal by exploiting a common stem-cell-related genetic regulator.
    MeSH term(s) Animals ; Cell Differentiation ; Cell Line, Tumor ; Cell Proliferation ; Cell Transformation, Neoplastic/pathology ; Clone Cells ; Gene Expression Regulation, Leukemic ; Isocitrate Dehydrogenase/genetics ; Isocitrate Dehydrogenase/metabolism ; Kruppel-Like Transcription Factors/genetics ; Kruppel-Like Transcription Factors/metabolism ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Mice ; Mitochondria/enzymology ; PTEN Phosphohydrolase/genetics ; PTEN Phosphohydrolase/metabolism ; Phenotype ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/pathology ; Proto-Oncogene Proteins c-myc/metabolism ; Receptors, Notch/metabolism
    Chemical Substances Kruppel-Like Transcription Factors ; Proto-Oncogene Proteins c-myc ; Receptors, Notch ; zinc finger protein, X-linked ; Isocitrate Dehydrogenase (EC 1.1.1.41) ; Ptpmt1 protein, mouse (EC 3.1.3.27) ; PTEN Phosphohydrolase (EC 3.1.3.67)
    Language English
    Publishing date 2014-01-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2014.01.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

    Swensen, Jeffrey J / Agarwal, Archana M / Esquilin, Jose M / Swierczek, Sabina / Perumbeti, Ajay / Hussey, Dottie / Lee, Margaret / Joiner, Clinton H / Pont-Kingdon, Genevieve / Lyon, Elaine / Prchal, Josef T

    Blood

    2010  Volume 116, Issue 15, Page(s) 2822–2825

    Abstract: Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first ... ...

    Abstract Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes. A 14-year-old boy presented with splenomegaly and hemolysis. Although his father has sickle cell trait, his mother has no abnormal hemoglobin (Hb). DNA sequencing, performed to rule out Hb S/β-thalassemia, detected homozygous Hb SS. Further studies revealed mosaic UPD of the β-globin locus, more SS erythroid progenitors than AS, but a reverse ratio of erythrocytes resulting from the survival advantage of AS erythrocytes. This report exemplifies non-Mendelian genetics wherein a patient who inherited sickle cell trait has mild SCD resulting from postzygotic mitotic recombination leading to UPD.
    MeSH term(s) Adolescent ; Anemia, Sickle Cell/blood ; Anemia, Sickle Cell/genetics ; Base Sequence ; Chromosomes, Human, Pair 11/genetics ; DNA Mutational Analysis ; Erythrocytes/metabolism ; Erythroid Precursor Cells/metabolism ; Female ; Hemoglobin A/metabolism ; Hemoglobin, Sickle/metabolism ; Humans ; Loss of Heterozygosity ; Male ; Mitosis/genetics ; Mosaicism ; Point Mutation ; Sickle Cell Trait/blood ; Sickle Cell Trait/genetics ; Uniparental Disomy ; beta-Globins/genetics
    Chemical Substances Hemoglobin, Sickle ; beta-Globins ; Hemoglobin A (9034-51-9)
    Language English
    Publishing date 2010-07-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2010-05-284331
    Database MEDical Literature Analysis and Retrieval System OnLINE

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