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  1. Artikel ; Online: A nanotherapeutic approach to selectively eliminate metastatic breast cancer cells by targeting cell surface GRP78.

    Shin, Jaeho / Kim, Baksun / Lager, Tyson W / Mejia, Franklin / Guldner, Ian / Conner, Clay / Zhang, Siyuan / Panopoulos, Athanasia D / Bilgicer, Basar

    Nanoscale

    2023  Band 15, Heft 32, Seite(n) 13322–13334

    Abstract: Here, rational engineering of doxorubicin prodrug loaded peptide-targeted liposomal nanoparticles to selectively target metastatic breast cancer ... ...

    Abstract Here, rational engineering of doxorubicin prodrug loaded peptide-targeted liposomal nanoparticles to selectively target metastatic breast cancer cells
    Mesh-Begriff(e) Animals ; Mice ; Endoplasmic Reticulum Chaperone BiP ; Membrane Proteins ; Cell Line, Tumor ; Prodrugs ; Glucose ; Peptides ; Doxorubicin/pharmacology ; Neoplasms
    Chemische Substanzen Endoplasmic Reticulum Chaperone BiP ; Membrane Proteins ; Prodrugs ; Glucose (IY9XDZ35W2) ; Peptides ; Doxorubicin (80168379AG)
    Sprache Englisch
    Erscheinungsdatum 2023-08-17
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2515664-0
    ISSN 2040-3372 ; 2040-3364
    ISSN (online) 2040-3372
    ISSN 2040-3364
    DOI 10.1039/d3nr00800b
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Multi-omic QTL mapping in early developmental tissues reveals phenotypic and temporal complexity of regulatory variants underlying GWAS loci.

    Arthur, Timothy D / Nguyen, Jennifer P / D'Antonio-Chronowska, Agnieszka / Jaureguy, Jeffrey / Silva, Nayara / Henson, Benjamin / Panopoulos, Athanasia D / Belmonte, Juan Carlos Izpisua / D'Antonio, Matteo / McVicker, Graham / Frazer, Kelly A

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Most GWAS loci are presumed to affect gene regulation, however, only ∼43% colocalize with expression quantitative trait loci (eQTLs). To address this colocalization gap, we identify eQTLs, chromatin accessibility QTLs (caQTLs), and histone acetylation ... ...

    Abstract Most GWAS loci are presumed to affect gene regulation, however, only ∼43% colocalize with expression quantitative trait loci (eQTLs). To address this colocalization gap, we identify eQTLs, chromatin accessibility QTLs (caQTLs), and histone acetylation QTLs (haQTLs) using molecular samples from three early developmental (EDev) tissues. Through colocalization, we annotate 586 GWAS loci for 17 traits by QTL complexity, QTL phenotype, and QTL temporal specificity. We show that GWAS loci are highly enriched for colocalization with complex QTL modules that affect multiple elements (genes and/or peaks). We also demonstrate that caQTLs and haQTLs capture regulatory variations not associated with eQTLs and explain ∼49% of the functionally annotated GWAS loci. Additionally, we show that EDev-unique QTLs are strongly depleted for colocalizing with GWAS loci. By conducting one of the largest multi-omic QTL studies to date, we demonstrate that many GWAS loci exhibit phenotypic complexity and therefore, are missed by traditional eQTL analyses.
    Sprache Englisch
    Erscheinungsdatum 2024-04-11
    Erscheinungsland United States
    Dokumenttyp Preprint
    DOI 10.1101/2024.04.10.588874
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation.

    Lager, Tyson W / Zuo, Junjun / Alam, Md Suhail / Calhoun, Barbara / Haldar, Kasturi / Panopoulos, Athanasia D

    Stem cell research

    2022  Band 62, Seite(n) 102799

    Abstract: Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D ...

    Abstract Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.
    Mesh-Begriff(e) Abnormalities, Multiple ; Face/abnormalities ; Hematologic Diseases/genetics ; Humans ; Induced Pluripotent Stem Cells ; Mutation/genetics ; Vestibular Diseases/genetics
    Sprache Englisch
    Erscheinungsdatum 2022-05-04
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2022.102799
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Cell surface GRP78 and Dermcidin cooperate to regulate breast cancer cell migration through Wnt signaling.

    Lager, Tyson W / Conner, Clay / Keating, Claudia R / Warshaw, Jane N / Panopoulos, Athanasia D

    Oncogene

    2021  Band 40, Heft 23, Seite(n) 4050–4059

    Abstract: The heat shock protein GRP78 typically resides in the endoplasmic reticulum in normal tissues, but it has been shown to be expressed on the cell surface of several cancer cells, and some stem cells, where it can act as a signaling molecule by not-yet- ... ...

    Abstract The heat shock protein GRP78 typically resides in the endoplasmic reticulum in normal tissues, but it has been shown to be expressed on the cell surface of several cancer cells, and some stem cells, where it can act as a signaling molecule by not-yet-fully defined mechanisms. Although cell surface GRP78 (sGRP78) has emerged as an attractive chemotherapeutic target, understanding how sGRP78 is functioning in cancer has been complicated by the fact that sGRP78 can function in a cell-context dependent manner, with a diverse array of reported binding partners, to regulate a variety of cellular responses. We had previously shown that sGRP78 was important in regulating pluripotent stem cell (PSC) functions, and hypothesized that embryonic-like mechanisms of GRP78 were critical to regulating aggressive breast cancer cell functions. Here, using proteomics we identify Dermcidin (DCD) as a novel sGRP78 binding partner common to both PSCs and breast cancer cells. We show that GRP78 and DCD cooperate to regulate stem cell and cancer cell migration that is dependent on the cell surface functions of these proteins. Finally, we identify Wnt/β-catenin signaling, a critical pathway in stem cell and cancer cell biology, as an important downstream intermediate in regulating this migration phenotype.
    Mesh-Begriff(e) Breast Neoplasms/metabolism ; Breast Neoplasms/pathology ; Cell Line, Tumor ; Cell Membrane/metabolism ; Cell Movement/physiology ; Cell Proliferation/physiology ; Endoplasmic Reticulum Chaperone BiP/metabolism ; Female ; Humans ; Peptides/metabolism ; Stem Cells/metabolism ; Wnt Signaling Pathway
    Chemische Substanzen Endoplasmic Reticulum Chaperone BiP ; HSPA5 protein, human ; Peptides ; dermcidin
    Sprache Englisch
    Erscheinungsdatum 2021-05-12
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 639046-8
    ISSN 1476-5594 ; 0950-9232
    ISSN (online) 1476-5594
    ISSN 0950-9232
    DOI 10.1038/s41388-021-01821-6
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Understanding the genetics behind complex human disease with large-scale iPSC collections.

    Yamasaki, Amanda E / Panopoulos, Athanasia D / Belmonte, Juan Carlos Izpisua

    Genome biology

    2017  Band 18, Heft 1, Seite(n) 135

    Abstract: Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits. ...

    Abstract Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
    Mesh-Begriff(e) Cell Differentiation ; Disease ; Genetic Variation ; Humans ; Induced Pluripotent Stem Cells ; Models, Genetic
    Sprache Englisch
    Erscheinungsdatum 2017-07-20
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2040529-7
    ISSN 1474-760X ; 1465-6914 ; 1465-6906
    ISSN (online) 1474-760X ; 1465-6914
    ISSN 1465-6906
    DOI 10.1186/s13059-017-1276-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: An iPSC line derived from a human acute myeloid leukemia cell line (HL-60-iPSC) retains leukemic abnormalities and displays myeloid differentiation defects.

    Yamasaki, Amanda E / Warshaw, Jane N / Kyalwazi, Beverly L / Matsui, Hiroko / Jepsen, Kristen / Panopoulos, Athanasia D

    Stem cell research

    2020  Band 49, Seite(n) 102096

    Abstract: Cancer-derived iPSCs have provided valuable insight into oncogenesis, but human cancer cells can often be difficult to reprogram, especially in cases of complex genetic abnormalities. Here we report, to our knowledge, the first successful generation of ... ...

    Abstract Cancer-derived iPSCs have provided valuable insight into oncogenesis, but human cancer cells can often be difficult to reprogram, especially in cases of complex genetic abnormalities. Here we report, to our knowledge, the first successful generation of an iPSC line from a human immortalized acute myeloid leukemia (AML) cell line, the cell line HL-60. This iPSC line retains a majority of the leukemic genotype and displays defects in myeloid differentiation, thus providing a tool for modeling and studying AML.
    Mesh-Begriff(e) Cell Differentiation ; HL-60 Cells ; Hematopoiesis ; Humans ; Induced Pluripotent Stem Cells ; Leukemia, Myeloid, Acute/genetics
    Sprache Englisch
    Erscheinungsdatum 2020-11-23
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2020.102096
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation

    Tyson W. Lager / Junjun Zuo / Md Suhail Alam / Barbara Calhoun / Kasturi Haldar / Athanasia D. Panopoulos

    Stem Cell Research, Vol 62, Iss , Pp 102799- (2022)

    2022  

    Abstract: Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D ...

    Abstract Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.
    Schlagwörter Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2022-07-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Two iPSC lines generated from the bone marrow of a relapsed/refractory AML patient display normal karyotypes and myeloid differentiation potential.

    Yamasaki, Amanda E / King, Nicholas E / Matsui, Hiroko / Jepsen, Kristen / Panopoulos, Athanasia D

    Stem cell research

    2019  Band 41, Seite(n) 101587

    Abstract: Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various ... ...

    Abstract Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various types of genomic aberrations that affect prognosis. Here we reprogrammed CD34+ cells from an AML patient containing a rare der(7)t(7;13) translocation associated with poor prognosis, who had relapsed and was refractory to current treatments. The generated AML-iPSCs displayed normal karyotypes and myeloid differentiation potential. These findings have implications for modeling and treating AML disease.
    Mesh-Begriff(e) Aged ; Bone Marrow/pathology ; Cell Differentiation ; Drug Resistance, Neoplasm ; Humans ; Induced Pluripotent Stem Cells/pathology ; Karyotype ; Leukemia, Myeloid, Acute/pathology ; Male ; Myeloid Cells/pathology ; Neoplasm Recurrence, Local/pathology ; Tumor Cells, Cultured
    Sprache Englisch
    Erscheinungsdatum 2019-10-17
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2019.101587
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: Understanding the genetics behind complex human disease with large-scale iPSC collections

    Amanda E. Yamasaki / Athanasia D. Panopoulos / Juan Carlos Izpisua Belmonte

    Genome Biology, Vol 18, Iss 1, Pp 1-

    2017  Band 3

    Abstract: Abstract Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits. ...

    Abstract Abstract Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
    Schlagwörter Biology (General) ; QH301-705.5 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2017-07-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: Two iPSC lines generated from the bone marrow of a relapsed/refractory AML patient display normal karyotypes and myeloid differentiation potential

    Amanda E. Yamasaki / Nicholas E. King / Hiroko Matsui / Kristen Jepsen / Athanasia D. Panopoulos

    Stem Cell Research, Vol 41, Iss , Pp - (2019)

    2019  

    Abstract: Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various ... ...

    Abstract Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various types of genomic aberrations that affect prognosis. Here we reprogrammed CD34+ cells from an AML patient containing a rare der(7)t(7;13) translocation associated with poor prognosis, who had relapsed and was refractory to current treatments. The generated AML-iPSCs displayed normal karyotypes and myeloid differentiation potential. These findings have implications for modeling and treating AML disease. Keywords: Acute Myeloid Leukemia, Bone marrow cells, Disease modeling, Reprogramming, Induced pluripotent stem cells
    Schlagwörter Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2019-12-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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