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  1. AU=Gollin Susanne M
  2. AU="Xie, Hong-Guang"
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  1. Article ; Online: Cytogenetic alterations and their molecular genetic correlates in head and neck squamous cell carcinoma: a next generation window to the biology of disease.

    Gollin, Susanne M

    Genes, chromosomes & cancer

    2014  Volume 53, Issue 12, Page(s) 972–990

    Abstract: Cytogenetic alterations underlie the development of head and neck squamous cell carcinoma (HNSCC), whether tobacco and alcohol use, betel nut chewing, snuff or human papillomavirus (HPV) causes the disease. Many of the molecular genetic aberrations in ... ...

    Abstract Cytogenetic alterations underlie the development of head and neck squamous cell carcinoma (HNSCC), whether tobacco and alcohol use, betel nut chewing, snuff or human papillomavirus (HPV) causes the disease. Many of the molecular genetic aberrations in HNSCC result from these cytogenetic alterations. This review presents a brief introduction to the epidemiology of HNSCC, and discusses the role of HPV in the disease, cytogenetic alterations and their frequencies in HNSCC, their molecular genetic and The Cancer Genome Atlas (TCGA) correlates, prognostic implications, and possible therapeutic considerations. The most frequent cytogenetic alterations in HNSCC are gains of 5p14-15, 8q11-12, and 20q12-13, gains or amplifications of 3q26, 7p11, 8q24, and 11q13, and losses of 3p, 4q35, 5q12, 8p23, 9p21-24, 11q14-23, 13q12-14, 18q23, and 21q22. To understand their effects on tumor cell biology and response to therapy, the cytogenetic findings in HNSCC are increasingly being examined in the context of the biochemical pathways they disrupt. The goal is to minimize morbidity and mortality from HNSCC using cytogenetic abnormalities to identify valuable diagnostic biomarkers for HNSCC, prognostic biomarkers of tumor behavior, recurrence risk, and outcome, and predictive biomarkers of therapeutic response to identify the most efficacious treatment for each individual patient's tumor, all based on a detailed understanding of the next generation biology of HNSCC.
    MeSH term(s) Biomarkers, Tumor/genetics ; Carcinoma, Squamous Cell/diagnosis ; Carcinoma, Squamous Cell/genetics ; Carcinoma, Squamous Cell/pathology ; Chromosome Aberrations ; Head and Neck Neoplasms/diagnosis ; Head and Neck Neoplasms/genetics ; Head and Neck Neoplasms/pathology ; Humans ; Prognosis ; Squamous Cell Carcinoma of Head and Neck
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2014-09-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.22214
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Concerning consequences of blocking Notch signaling in satellite muscle stem cells.

    Kaseb, Hatem O / Gollin, Susanne M

    Frontiers in cell and developmental biology

    2015  Volume 3, Page(s) 11

    Language English
    Publishing date 2015-02-18
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2737824-X
    ISSN 2296-634X
    ISSN 2296-634X
    DOI 10.3389/fcell.2015.00011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Janet Davison Rowley, M.D. (1925–2013).

    Gollin, Susanne M / Reshmi, Shalini C

    American journal of human genetics

    2014  Volume 94, Issue 6, Page(s) 805–808

    MeSH term(s) Chromosome Aberrations ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics ; Neoplasms/history ; Translocation, Genetic/genetics
    Language English
    Publishing date 2014-05-15
    Publishing country United States
    Document type Biography ; Historical Article ; Journal Article ; Portrait
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2014.05.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.

    Koppes, Erik A / Johnson, Marie A / Moresco, James J / Luppi, Patrizia / Lewis, Dale W / Stolz, Donna B / Diedrich, Jolene K / Yates, John R / Wek, Ronald C / Watkins, Simon C / Gollin, Susanne M / Park, Hyun Jung / Drain, Peter / Nicholls, Robert D

    PLoS genetics

    2023  Volume 19, Issue 4, Page(s) e1010710

    Abstract: Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal ... ...

    Abstract Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified abnormal pancreatic islet development with retention of aged insulin and deficient insulin secretion. To determine the collective roles of PWS genes in β-cell biology, we used genome-editing to generate isogenic, clonal INS-1 insulinoma lines having 3.16 Mb deletions of the silent, maternal- (control) and active, paternal-allele (PWS). PWS β-cells demonstrated a significant cell autonomous reduction in basal and glucose-stimulated insulin secretion. Further, proteomic analyses revealed reduced levels of cellular and secreted hormones, including all insulin peptides and amylin, concomitant with reduction of at least ten endoplasmic reticulum (ER) chaperones, including GRP78 and GRP94. Critically, differentially expressed genes identified by whole transcriptome studies included reductions in levels of mRNAs encoding these secreted peptides and the group of ER chaperones. In contrast to the dosage compensation previously seen for ER chaperones in Grp78 or Grp94 gene knockouts or knockdown, compensation is precluded by the stress-independent deficiency of ER chaperones in PWS β-cells. Consistent with reduced ER chaperones levels, PWS INS-1 β-cells are more sensitive to ER stress, leading to earlier activation of all three arms of the unfolded protein response. Combined, the findings suggest that a chronic shortage of ER chaperones in PWS β-cells leads to a deficiency of protein folding and/or delay in ER transit of insulin and other cargo. In summary, our results illuminate the pathophysiological basis of pancreatic β-cell hormone deficits in PWS, with evolutionary implications for the multigenic PWS-domain, and indicate that PWS-imprinted genes coordinate concerted regulation of ER chaperone biosynthesis and β-cell secretory pathway function.
    MeSH term(s) Mice ; Animals ; Prader-Willi Syndrome/genetics ; Prader-Willi Syndrome/metabolism ; Insulin Secretion/genetics ; Endoplasmic Reticulum Chaperone BiP ; Down-Regulation ; Proteomics ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Insulin/genetics ; Insulin/metabolism ; Endoplasmic Reticulum/genetics ; Endoplasmic Reticulum/metabolism
    Chemical Substances Endoplasmic Reticulum Chaperone BiP ; Molecular Chaperones ; Insulin
    Language English
    Publishing date 2023-04-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2186725-2
    ISSN 1553-7404 ; 1553-7390
    ISSN (online) 1553-7404
    ISSN 1553-7390
    DOI 10.1371/journal.pgen.1010710
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Mechanisms leading to nonrandom, nonhomologous chromosomal translocations in leukemia.

    Gollin, Susanne M

    Seminars in cancer biology

    2006  Volume 17, Issue 1, Page(s) 74–79

    Abstract: Nonrandom, reciprocal translocations between nonhomologous chromosomes are critical cellular events that lead to malignant transformation. Therefore, understanding the mechanisms involved in these chromosomal rearrangements is essential for understanding ...

    Abstract Nonrandom, reciprocal translocations between nonhomologous chromosomes are critical cellular events that lead to malignant transformation. Therefore, understanding the mechanisms involved in these chromosomal rearrangements is essential for understanding the process of carcinogenesis. There has been substantial discussion in the literature over the past 10 years about mechanisms involved in constitutional chromosomal rearrangements, including deletions, duplications, and translocations. Yet our understanding of the mechanisms of chromosomal rearrangements in cancer is still developing. This review presents what is known about the mechanisms involved in selected nonrandom chromosomal translocations in leukemia.
    MeSH term(s) Cell Nucleus/metabolism ; Chromosome Aberrations ; Chromosome Breakage ; Gene Expression Regulation, Leukemic ; Humans ; Karyotyping ; Leukemia/genetics ; Leukemia, Lymphoid ; Models, Biological ; Models, Genetic ; Neoplasms/genetics ; Philadelphia Chromosome ; Translocation, Genetic
    Language English
    Publishing date 2006-10-26
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1033980-2
    ISSN 1096-3650 ; 1044-579X
    ISSN (online) 1096-3650
    ISSN 1044-579X
    DOI 10.1016/j.semcancer.2006.10.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Concerning Consequences of Blocking Notch Signaling in Satellite Muscle Stem Cells

    Hatem Osama Kaseb / Susanne M. Gollin

    Frontiers in Cell and Developmental Biology, Vol

    2015  Volume 3

    Keywords stem cell ; targeted therapy ; Toxicity ; tumor cells ; Notch signalling ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2015-02-01T00:00:00Z
    Publisher Frontiers Media S.A.
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article: Mechanisms leading to chromosomal instability.

    Gollin, Susanne M

    Seminars in cancer biology

    2005  Volume 15, Issue 1, Page(s) 33–42

    Abstract: Chromosomal instability is a common feature of cancer cells. Several cellular mechanisms lead to numerical and structural chromosomal instability in cancer cells, including defects in chromosomal segregation, cellular checkpoints that guard against ... ...

    Abstract Chromosomal instability is a common feature of cancer cells. Several cellular mechanisms lead to numerical and structural chromosomal instability in cancer cells, including defects in chromosomal segregation, cellular checkpoints that guard against reproduction of abnormal cells, telomere stability, and the DNA damage response. Human papillomavirus interferes with these processes, causing chromosomal instability and tumor formation in some of the epithelial cells which it infects. The rate of discoveries about the mechanisms leading to chromosomal instability in cancer cells is increasing rapidly. Although these mechanisms were thought to be unrelated, they are intimately intertwined, connecting the complex network of cellular pathways. Since chromosomal instability is undoubtedly a major cause of tumor evasion of therapy, understanding the mechanisms leading to chromosomal instability has major translational significance.
    MeSH term(s) Cell Transformation, Neoplastic ; Chromosomal Instability ; DNA Damage ; DNA Repair ; Humans ; Neoplasms/etiology ; Telomere/chemistry ; Telomere/genetics
    Language English
    Publishing date 2005-02
    Publishing country England
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 1033980-2
    ISSN 1096-3650 ; 1044-579X
    ISSN (online) 1096-3650
    ISSN 1044-579X
    DOI 10.1016/j.semcancer.2004.09.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: A prolonged response to platinum-based therapy in a patient with metastatic urothelial carcinoma harboring a single rearranged and truncated NF2 gene.

    Achkar, Tala / Ali, Siraj M / Welsh, Allison / Dhir, Rajiv / Gollin, Susanne M / Parikh, Rahul A

    Genes, chromosomes & cancer

    2018  Volume 57, Issue 8, Page(s) 430–433

    Abstract: Tumor genome sequencing has become an invaluable resource in determining targets for new therapies. In this report, we describe the case of a patient with metastatic urothelial carcinoma with sarcomatoid features. Sarcomatoid differentiation is a rare ... ...

    Abstract Tumor genome sequencing has become an invaluable resource in determining targets for new therapies. In this report, we describe the case of a patient with metastatic urothelial carcinoma with sarcomatoid features. Sarcomatoid differentiation is a rare histologic subtype that confers a more aggressive course. The first-line treatment for patients with urothelial carcinoma is platinum-based chemotherapy. Next generation tumor sequencing performed using the FoundationOne assay revealed loss of one NF2 allele and an unbalanced der(22)t(10;22)(p11.22;q12.2) chromosomal rearrangement involving the other NF2 allele, resulting in truncation and predicted loss of function. Fluorescence in situ hybridization (FISH) analysis confirmed the presence of one NF2 signal. NF2 mutations have been found in a variety of cancers and result in activation of the mTOR pathway. As such, the use of mTOR inhibitors, such as everolimus are thought to be particularly effective in the case of NF2 loss. Our patient had a dramatic response to first-line chemotherapy, but unfortunately experienced subsequent progression of his cancer and could not tolerate everolimus. Although our patient's tumor demonstrated unique acquired genetic features including both loss of heterozygosity and truncation of the NF2 locus, he still achieved a meaningful response to platinum-based chemotherapy.
    MeSH term(s) Aged ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Biomarkers, Pharmacological ; Chromosome Aberrations ; Genes, Neurofibromatosis 2 ; Humans ; Male ; Neurofibromatosis 2/genetics ; Organoplatinum Compounds/administration & dosage ; Urinary Bladder Neoplasms/drug therapy ; Urinary Bladder Neoplasms/genetics
    Chemical Substances Biomarkers, Pharmacological ; Organoplatinum Compounds
    Language English
    Publishing date 2018-03-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.22537
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Cell division patterns and chromosomal segregation defects in oral cancer stem cells.

    Kaseb, Hatem O / Lewis, Dale W / Saunders, William S / Gollin, Susanne M

    Genes, chromosomes & cancer

    2016  Volume 55, Issue 9, Page(s) 694–709

    Abstract: Oral squamous cell carcinoma (OSCC) is a serious public health problem caused primarily by smoking and alcohol consumption or human papillomavirus. The cancer stem cell (CSC) theory posits that CSCs show unique characteristics, including self-renewal and ...

    Abstract Oral squamous cell carcinoma (OSCC) is a serious public health problem caused primarily by smoking and alcohol consumption or human papillomavirus. The cancer stem cell (CSC) theory posits that CSCs show unique characteristics, including self-renewal and therapeutic resistance. Examining biomarkers and other features of CSCs is critical to better understanding their biology. To this end, the results show that cellular SOX2 immunostaining correlates with other CSC biomarkers in OSCC cell lines and marks the rare CSC population. To assess whether CSC division patterns are symmetrical, resulting in two CSC, or asymmetrical, leading to one CSC and one cancer cell, cell size and fluorescence intensity of mitotic cells stained with SOX2 were analyzed. Asymmetrical SOX2 distribution in ≈25% of the mitoses analyzed was detected. Chromosomal instability, some of which is caused by chromosome segregation defects (CSDs), is a feature of cancer cells that leads to altered gene copy numbers. We compare chromosomal instability (as measured by CSDs) between CSCs (SOX2+) and non-CSCs (SOX2-) from the same OSCC cell lines. CSDs were more common in non-CSCs (SOX2-) than CSCs (SOX2+) and in symmetrical CSC (SOX2+) mitotic pairs than asymmetrical CSC (SOX2+/SOX2-) mitotic pairs. CSCs showed fewer and different types of CSDs after ionizing radiation treatment than non-CSCs. Overall, these data are the first to demonstrate both symmetrical and asymmetrical cell divisions with CSDs in OSCC CSC. Further, the results suggest that CSCs may undergo altered behavior, including therapeutic resistance as a result of chromosomal instability due to chromosome segregation defects. © 2016 Wiley Periodicals, Inc.
    MeSH term(s) Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Carcinoma, Squamous Cell/genetics ; Carcinoma, Squamous Cell/pathology ; Cell Differentiation/genetics ; Cell Differentiation/radiation effects ; Cell Division/genetics ; Cell Division/radiation effects ; Chromosome Segregation/genetics ; Chromosome Segregation/radiation effects ; Fluorescent Antibody Technique ; Humans ; Infrared Rays ; Mouth Neoplasms/genetics ; Mouth Neoplasms/pathology ; Neoplastic Stem Cells/metabolism ; Neoplastic Stem Cells/pathology ; Neoplastic Stem Cells/radiation effects ; SOXB1 Transcription Factors/genetics ; SOXB1 Transcription Factors/metabolism ; Tumor Cells, Cultured
    Chemical Substances Biomarkers, Tumor ; SOX2 protein, human ; SOXB1 Transcription Factors
    Language English
    Publishing date 2016-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.22371
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Conference proceedings: Chromosomal alterations in head and neck cancer: Window to the biology of disease

    Gollin, Susanne M.

    2006  , Page(s) 06hnod362

    Event/congress 77. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e.V.; Mannheim; Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie; 2006
    Keywords Medizin, Gesundheit
    Publishing date 2006-04-24
    Publisher German Medical Science; Düsseldorf, Köln
    Document type Conference proceedings
    Database German Medical Science

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