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  1. Article ; Online: Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment.

    Tang, Yan / Kwiatkowski, David J / Henske, Elizabeth P

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 5018

    Abstract: mTORC1 is hyperactive in multiple cancer ... ...

    Abstract mTORC1 is hyperactive in multiple cancer types
    MeSH term(s) Endothelial Cells ; Humans ; Mechanistic Target of Rapamycin Complex 1/antagonists & inhibitors ; Midkine/metabolism ; Neoplasms/immunology ; Neoplasms/metabolism ; Neoplastic Stem Cells ; Sirolimus ; TOR Serine-Threonine Kinases ; Tuberous Sclerosis Complex 2 Protein ; Tumor Microenvironment ; Tumor Suppressor Proteins
    Chemical Substances Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins ; Midkine (137497-38-2) ; MTOR protein, human (EC 2.7.1.1) ; Mechanistic Target of Rapamycin Complex 1 (EC 2.7.11.1) ; TOR Serine-Threonine Kinases (EC 2.7.11.1) ; Sirolimus (W36ZG6FT64)
    Language English
    Publishing date 2022-08-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-022-32673-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book: Tuberous sclerosis complex

    Kwiatkowski, David J. / Whittemore, Vicky Holets / Thiele, Elizabeth A.

    genes, clinical features, and therapeutics

    2010  

    Author's details ed. by David J. Kwiatkowski ; Vicky Holets Whittemore ; Elizabeth A. Thiele
    Keywords Tuberöse Hirnsklerose
    Subject Epiloia ; Bourneville-Syndrom ; Tuberöse Sklerose ; Tuberöse Sklerose-Komplex ; Hypertrophische tuberöse Hirnsklerose ; Brissaud-Syndrom ; Pringle ; Bourneville-Pringle-Syndrom
    Language English
    Publisher Wiley-Blackwell
    Publishing place Weinheim
    Publishing country Germany
    Document type Book
    HBZ-ID HT016352927
    ISBN 978-3-527-32201-5 ; 3-527-32201-9
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2010 A 2440 order for loan Magazin

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  3. Article ; Online: Distribution of

    Nassar, Amin H / Adib, Elio / Kwiatkowski, David J

    The New England journal of medicine

    2021  Volume 384, Issue 2, Page(s) 185–187

    MeSH term(s) Carcinoma, Non-Small-Cell Lung ; Humans ; Lung Neoplasms ; Mutation ; Piperazines ; Proto-Oncogene Proteins p21(ras)/genetics ; Pyridines ; Pyrimidines
    Chemical Substances KRAS protein, human ; Piperazines ; Pyridines ; Pyrimidines ; sotorasib (2B2VM6UC8G) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2021-01-26
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2030638
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment

    Yan Tang / David J. Kwiatkowski / Elizabeth P. Henske

    Nature Communications, Vol 13, Iss 1, Pp 1-

    2022  Volume 22

    Abstract: The tumour microenvironment in mTORC1 hyperactive cancers remains poorly characterised. Here, integrative analysis in tuberous sclerosis complex tumours with mTORC1 hyperactivity suggests distinct cell states associated with rapamycin resistance and ... ...

    Abstract The tumour microenvironment in mTORC1 hyperactive cancers remains poorly characterised. Here, integrative analysis in tuberous sclerosis complex tumours with mTORC1 hyperactivity suggests distinct cell states associated with rapamycin resistance and immune modulation.
    Keywords Science ; Q
    Language English
    Publishing date 2022-08-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: mTORC1 hyperactivation in lymphangioleiomyomatosis leads to

    Tang, Yan / Kwiatkowski, David J / Henske, Elizabeth P

    The European respiratory journal

    2021  Volume 57, Issue 2

    MeSH term(s) Alveolar Epithelial Cells/metabolism ; Alveolar Epithelial Cells/pathology ; Angiotensin-Converting Enzyme 2/genetics ; Antibiotics, Antineoplastic/pharmacology ; COVID-19/metabolism ; COVID-19/virology ; Cancer-Associated Fibroblasts/metabolism ; Humans ; Interferons/metabolism ; Interleukin-6/metabolism ; Lymphangioleiomyomatosis/metabolism ; Lymphangioleiomyomatosis/pathology ; Mechanistic Target of Rapamycin Complex 1/metabolism ; SARS-CoV-2/physiology ; Signal Transduction/drug effects ; Sirolimus/pharmacology ; Up-Regulation/drug effects
    Chemical Substances Antibiotics, Antineoplastic ; IL6 protein, human ; Interleukin-6 ; Interferons (9008-11-1) ; Mechanistic Target of Rapamycin Complex 1 (EC 2.7.11.1) ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23) ; Sirolimus (W36ZG6FT64)
    Keywords covid19
    Language English
    Publishing date 2021-02-11
    Publishing country England
    Document type Letter
    ZDB-ID 639359-7
    ISSN 1399-3003 ; 0903-1936
    ISSN (online) 1399-3003
    ISSN 0903-1936
    DOI 10.1183/13993003.02737-2020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2322: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 292: Show issues

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  6. Article ; Online: Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy.

    Bou Farhat, Elias / Adib, Elio / Daou, Melissa / Naqash, Abdul Rafeh / Matulonis, Ursula / Ng, Kimmie / Kwiatkowski, David J / Sholl, Lynette M / Nassar, Amin H

    Cancer cell

    2024  Volume 42, Issue 2, Page(s) 323

    Language English
    Publishing date 2024-02-08
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 2078448-X
    ISSN 1878-3686 ; 1535-6108
    ISSN (online) 1878-3686
    ISSN 1535-6108
    DOI 10.1016/j.ccell.2024.01.009
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    Zs.A 5650: Show issues Location:
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    Zs.MG 104: Show issues

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  7. Article ; Online: Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

    Chen, Jillian L / Miller, David T / Schmidt, Laura S / Malkin, David / Korf, Bruce R / Eng, Charis / Kwiatkowski, David J / Giannikou, Krinio

    Annual review of genomics and human genetics

    2022  Volume 23, Page(s) 331–361

    Abstract: A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regarding ... ...

    Abstract A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regarding mosaicism for eight common tumor suppressor genes-
    MeSH term(s) Genes, Tumor Suppressor ; Humans ; Mosaicism ; Mutation ; Phenotype ; Prevalence
    Language English
    Publishing date 2022-09-20
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Intramural ; Research Support, N.I.H., Extramural
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-120121-105450
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    Se 2016: Show issues Location:
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  8. Article ; Online: mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.

    Liu, Heng-Jia / Du, Heng / Khabibullin, Damir / Zarei, Mahsa / Wei, Kevin / Freeman, Gordon J / Kwiatkowski, David J / Henske, Elizabeth P

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 1214

    Abstract: Identifying the mechanisms underlying the regulation of immune checkpoint molecules and the therapeutic impact of targeting them in cancer is critical. Here we show that high expression of the immune checkpoint B7-H3 (CD276) and high mTORC1 activity ... ...

    Abstract Identifying the mechanisms underlying the regulation of immune checkpoint molecules and the therapeutic impact of targeting them in cancer is critical. Here we show that high expression of the immune checkpoint B7-H3 (CD276) and high mTORC1 activity correlate with immunosuppressive phenotypes and worse clinical outcomes in 11,060 TCGA human tumors. We find that mTORC1 upregulates B7-H3 expression via direct phosphorylation of the transcription factor YY2 by p70 S6 kinase. Inhibition of B7-H3 suppresses mTORC1-hyperactive tumor growth via an immune-mediated mechanism involving increased T-cell activity and IFN-γ responses coupled with increased tumor cell expression of MHC-II. CITE-seq reveals strikingly increased cytotoxic CD38
    MeSH term(s) Humans ; Tumor Escape ; T-Lymphocytes ; Genes, Regulator ; Transcription Factors ; Mechanistic Target of Rapamycin Complex 1 ; B7 Antigens
    Chemical Substances Transcription Factors ; Mechanistic Target of Rapamycin Complex 1 (EC 2.7.11.1) ; CD276 protein, human ; B7 Antigens ; YY2 protein, human
    Language English
    Publishing date 2023-03-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-36881-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings.

    Treichel, Alison M / Boeszoermenyi, Barbara / Lee, Chyi-Chia Richard / Moss, Joel / Kwiatkowski, David J / Darling, Thomas N

    JID innovations : skin science from molecules to population health

    2023  Volume 3, Issue 2, Page(s) 100180

    Abstract: Skin findings can be critical to determining whether a patient with lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly affects adult women, has sporadic LAM or LAM in association with tuberous sclerosis complex (TSC). ... ...

    Abstract Skin findings can be critical to determining whether a patient with lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly affects adult women, has sporadic LAM or LAM in association with tuberous sclerosis complex (TSC). Three individuals with LAM underwent evaluation for TSC-associated mucocutaneous and internal findings. We used our previously published algorithm to confirm the clinical suspicion for mosaicism and guide the selection of tissue specimens and genetic workup. Next-generation sequencing of cutaneous findings was used to confirm clinical suspicion for mosaic TSC in individuals with LAM. Two individuals previously thought to have sporadic LAM were diagnosed with mosaic TSC-associated LAM upon next-generation sequencing of unilateral angiofibromas in one and an unusual cutaneous hamartoma in the other. A third individual, diagnosed with TSC in childhood, was found to have a mosaic pathogenic variant in
    Language English
    Publishing date 2023-01-09
    Publishing country Netherlands
    Document type Case Reports
    ISSN 2667-0267
    ISSN (online) 2667-0267
    DOI 10.1016/j.xjidi.2023.100180
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Book ; Conference proceedings: Report of the Second International Workshop on Human Chromosome 9 Mapping 1993

    Kwiatkowski, David J.

    held on April 18 - 20, 1993, Chatham, Massachusetts, USA

    1993  

    Event/congress International Workshop on Human Chromosome 9 Mapping (2, 1993, ChathamMass.)
    Author's details organized by David J. Kwiatkowski
    Keywords Chromosome Mapping / congresses ; Chromosomes, Human, Pair 9 / congresses
    Language English
    Publishing country Switzerland
    Document type Book ; Conference proceedings
    Note In: Cytogenetics and cell genetics. - ISSN 0301-0171. - 64 (1993), S. 93 - 121
    HBZ-ID HT004935828
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 512 -64- verfügbar in Königswinter Königswinter

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