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  1. Article ; Online: Passing of the baton.

    Eng, Charis

    Endocrine-related cancer

    2020  Volume 27, Issue 12, Page(s) E7–E8

    MeSH term(s) Biomedical Research ; Humans
    Language English
    Publishing date 2020-11-27
    Publishing country England
    Document type Editorial
    ZDB-ID 1218450-0
    ISSN 1479-6821 ; 1351-0088
    ISSN (online) 1479-6821
    ISSN 1351-0088
    DOI 10.1530/ERC-20-0426
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4192: 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)

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  2. Article ; Online: On the shoulders of giants.

    Eng, Charis

    Human molecular genetics

    2020  Volume 30, Issue 1, Page(s) 3–4

    MeSH term(s) Journalism, Medical ; Molecular Biology
    Language English
    Publishing date 2020-12-09
    Publishing country England
    Document type Editorial
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddaa265
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3469: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  3. Article ; Online: Assessing Risk for Gastrointestinal Cancers: Forewarned Is Forearmed…˙.

    Stoffel, Elena M / Eng, Charis

    Gastroenterology

    2023  Volume 164, Issue 5, Page(s) 705–706

    MeSH term(s) Humans ; Gastrointestinal Neoplasms/diagnosis ; Risk Assessment
    Language English
    Publishing date 2023-03-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80112-4
    ISSN 1528-0012 ; 0016-5085
    ISSN (online) 1528-0012
    ISSN 0016-5085
    DOI 10.1053/j.gastro.2023.03.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui V Zs.44: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 572: Show issues

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  4. Article ; Online: Genetics and genomics in healthcare: The future is now.

    Yehia, Lamis / Eng, Charis

    Singapore medical journal

    2023  Volume 64, Issue 1, Page(s) 4–6

    MeSH term(s) Humans ; Genomics ; Health Facilities ; Delivery of Health Care
    Language English
    Publishing date 2023-02-01
    Publishing country India
    Document type Journal Article
    ZDB-ID 604319-7
    ISSN 2737-5935 ; 0037-5675
    ISSN (online) 2737-5935
    ISSN 0037-5675
    DOI 10.4103/SINGAPOREMEDJ.SMJ-2021-346
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.B 589: Show issues Location:
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  5. Article ; Online: Is the

    Dhawan, Andrew / Eng, Charis

    Cleveland Clinic journal of medicine

    2023  Volume 90, Issue 11, Page(s) 661–663

    MeSH term(s) Humans ; Thrombosis/genetics ; Venous Thrombosis ; Mutation ; Risk Factors ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics
    Chemical Substances MTHFR protein, human (EC 1.5.1.20) ; Methylenetetrahydrofolate Reductase (NADPH2) (EC 1.5.1.20)
    Language English
    Publishing date 2023-11-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639116-3
    ISSN 1939-2869 ; 0891-1150
    ISSN (online) 1939-2869
    ISSN 0891-1150
    DOI 10.3949/ccjm.90a.23044
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ua VI Zs.212: Show issues Location:
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  6. Article: Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.

    Eng, Charis / Kim, Adriel / Yehia, Lamis

    Research square

    2023  

    Abstract: Individuals with ... ...

    Abstract Individuals with germline
    Language English
    Publishing date 2023-12-14
    Publishing country United States
    Document type Preprint
    DOI 10.21203/rs.3.rs-3734368/v1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: One Size Does Not Fit All: Breast Cancer in Young Women.

    Yehia, Lamis / Eng, Charis

    Clinical cancer research : an official journal of the American Association for Cancer Research

    2022  Volume 28, Issue 11, Page(s) 2209–2210

    Abstract: Breast cancers occurring in young women remain poorly characterized. Through studying a series of very young women with breast cancer compared with older women with breast cancer, distinct biological features were identified, with important implications ... ...

    Abstract Breast cancers occurring in young women remain poorly characterized. Through studying a series of very young women with breast cancer compared with older women with breast cancer, distinct biological features were identified, with important implications for the personalized genomics-driven management of these cancers. See related article by Waks et al., p. 2339.
    MeSH term(s) Aged ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Breast Neoplasms/therapy ; Female ; Genomics ; Germ Cells ; Humans
    Language English
    Publishing date 2022-07-01
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1225457-5
    ISSN 1557-3265 ; 1078-0432
    ISSN (online) 1557-3265
    ISSN 1078-0432
    DOI 10.1158/1078-0432.CCR-22-0352
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4223: 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)

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  8. Article ; Online: Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.

    Liu, Darren / Yehia, Lamis / Dhawan, Andrew / Ni, Ying / Eng, Charis

    Cell reports. Medicine

    2024  Volume 5, Issue 2, Page(s) 101384

    Abstract: Individuals with PTEN hamartoma tumor syndrome (PHTS) harbor pathogenic germline PTEN variants that confer a significantly increased lifetime risk of various organ-specific cancers including second primary malignant neoplasms (SMNs). Currently, there are ...

    Abstract Individuals with PTEN hamartoma tumor syndrome (PHTS) harbor pathogenic germline PTEN variants that confer a significantly increased lifetime risk of various organ-specific cancers including second primary malignant neoplasms (SMNs). Currently, there are no reliable biomarkers that can predict individual-level cancer risk. Despite the highly promising value of cell-free DNA (cfDNA) as a biomarker for underlying sporadic cancers, the utility of cfDNA in individuals with known cancer-associated germline variants and subclinical cancers remains poorly understood. We perform ultra-low-pass whole-genome sequencing (ULP-WGS) of cfDNA from plasma samples from patients with PHTS and cancer as well as those without cancer. Analysis of cfDNA reveals that patients with PHTS and SMNs have distinct cfDNA size distribution, aberrant genome-wide fragmentation, and differential fragment end motif frequencies. Our work provides evidence that cfDNA profiles may be used as a marker for SMN risk in patients with PHTS.
    MeSH term(s) Humans ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Hamartoma Syndrome, Multiple/complications ; PTEN Phosphohydrolase/genetics ; Neoplasms ; Germ-Line Mutation ; Cell-Free Nucleic Acids/genetics
    Chemical Substances PTEN Phosphohydrolase (EC 3.1.3.67) ; Cell-Free Nucleic Acids ; PTEN protein, human (EC 3.1.3.67)
    Language English
    Publishing date 2024-01-18
    Publishing country United States
    Document type Journal Article
    ISSN 2666-3791
    ISSN (online) 2666-3791
    DOI 10.1016/j.xcrm.2023.101384
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: The mitochondrial genome as a modifier of autism versus cancer phenotypes in

    Wei, Ruipeng / Yehia, Lamis / Ni, Ying / Eng, Charis

    HGG advances

    2023  Volume 4, Issue 3, Page(s) 100199

    Abstract: Cancer and autism spectrum disorder/developmental delay (ASD/DD) are two common clinical phenotypes in individuals with ... ...

    Abstract Cancer and autism spectrum disorder/developmental delay (ASD/DD) are two common clinical phenotypes in individuals with germline
    MeSH term(s) Humans ; Hamartoma Syndrome, Multiple/genetics ; Autistic Disorder/genetics ; Autism Spectrum Disorder/genetics ; Genome, Mitochondrial/genetics ; DNA Copy Number Variations/genetics ; Phenotype ; Thyroid Neoplasms/genetics ; DNA, Mitochondrial/genetics ; PTEN Phosphohydrolase/genetics
    Chemical Substances DNA, Mitochondrial ; PTEN protein, human (EC 3.1.3.67) ; PTEN Phosphohydrolase (EC 3.1.3.67)
    Language English
    Publishing date 2023-04-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ISSN 2666-2477
    ISSN (online) 2666-2477
    DOI 10.1016/j.xhgg.2023.100199
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in

    Smith, Iris N / Dawson, Jennifer E / Eng, Charis

    The journal of physical chemistry. B

    2023  Volume 127, Issue 3, Page(s) 634–647

    Abstract: PTEN (phosphatase and tensin homolog deleted on chromosome 10) is a tightly regulated dual-specificity phosphatase and key regulator of the PI3K/AKT/mTOR signaling pathway. PTEN phosphorylation at its carboxy-terminal tail (CTT) serine/threonine cluster ... ...

    Abstract PTEN (phosphatase and tensin homolog deleted on chromosome 10) is a tightly regulated dual-specificity phosphatase and key regulator of the PI3K/AKT/mTOR signaling pathway. PTEN phosphorylation at its carboxy-terminal tail (CTT) serine/threonine cluster negatively regulates its tumor suppressor function by inducing a stable, closed, and inactive conformation. Germline
    MeSH term(s) Humans ; Autism Spectrum Disorder/genetics ; Autistic Disorder/genetics ; Mutation ; Neoplasms/genetics ; Phosphatidylinositol 3-Kinases/metabolism ; Phosphorylation ; PTEN Phosphohydrolase/genetics ; PTEN Phosphohydrolase/chemistry ; PTEN Phosphohydrolase/metabolism
    Chemical Substances Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
    Language English
    Publishing date 2023-01-10
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1520-5207
    ISSN (online) 1520-5207
    DOI 10.1021/acs.jpcb.2c06776
    Database MEDical Literature Analysis and Retrieval System OnLINE

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