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  1. AU="Paquette, Kimberly"
  2. AU="Sharawat, Indar Kumar"
  3. AU="Alexandre Alanio"
  4. AU="Caron, Jeffrey G"
  5. AU="Lubisi, Baratang A"
  6. AU="Edelman, Robert R."
  7. AU="van der Werf, Steffie"
  8. AU="Sam, Andrew"

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  1. Artikel: Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.

    Tábuas-Pereira, Miguel / Santana, Isabel / Gibbons, Elizabeth / Paquette, Kimberly / Almeida, Maria Rosário / Baldeiras, Inês / Bras, Jose / Guerreiro, Rita

    Frontiers in neurology

    2022  Band 13, Seite(n) 886379

    Abstract: Introduction: Frontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD. We aimed ...

    Abstract Introduction: Frontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD. We aimed to study a Portuguese cohort of FTD patients, searching for variants in genes associated with both FTD and/or ALS.
    Methods: We included 57 thoroughly characterized index FTD patients from our memory clinic, who were not carriers of pathogenic variants in
    Results: We identified 13 rare missense variants in 10 patients (three patients had two variants) in the following genes:
    Discussion: We report, for the first time, an expanded study of genes known to cause FTD-ALS, in the Portuguese population. Potentially pathogenic variants in
    Sprache Englisch
    Erscheinungsdatum 2022-07-07
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.886379
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

    Foddis, Marco / Blumenau, Sonja / Holtgrewe, Manuel / Paquette, Kimberly / Westra, Kaitlyn / Alonso, Isabel / Macario, Maria do Carmo / Morgadinho, Ana Sofia / Velon, Ana Graça / Santo, Gustavo / Santana, Isabel / Mönkäre, Saana / Kuuluvainen, Liina / Schleutker, Johanna / Pöyhönen, Minna / Myllykangas, Liisa / Pavlovic, Aleksandra / Kostic, Vladimir / Dobricic, Valerija /
    Lohmann, Ebba / Hanagasi, Hasmet / Santos, Mariana / Guven, Gamze / Bilgic, Basar / Bras, Jose / Beule, Dieter / Dirnagl, Ulrich / Guerreiro, Rita / Sassi, Celeste

    Neurobiology of aging

    2022  Band 123, Seite(n) 208–215

    Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset ... ...

    Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral small vessel disease and share clinical, and, to different extents, neuroradiological and neuropathological features. However, whether CADASIL and RVCL-S overlapping phenotype may be explained by shared genetic risk or causative factors such as TREX1 coding variants remains poorly understood. To investigate this intriguing hypothesis, we used exome sequencing to screen TREX1 protein-coding variability in a large multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic CADASIL-like Caucasian patients from the USA, Portugal, Finland, Serbia and Turkey. We report 2 very rare and likely pathogenic TREX1 mutations: a loss of function mutation (p.Ala129fs) clustering in the catalytic domain, in an apparently sporadic 46-year-old patient from the USA and a missense mutation (p.Tyr305Cys) in the well conserved C-terminal region, in a 57-year-old patient with positive family history from Serbia. In concert with recent findings, our study expands the clinical spectrum of diseases associated with TREX1 mutations.
    Mesh-Begriff(e) Humans ; CADASIL/genetics ; Cerebral Infarction ; Cerebral Small Vessel Diseases/complications ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/genetics ; Mutation/genetics ; Receptor, Notch3/genetics
    Chemische Substanzen Receptor, Notch3 ; three prime repair exonuclease 1 (EC 3.1.16.-)
    Sprache Englisch
    Erscheinungsdatum 2022-11-26
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604505-4
    ISSN 1558-1497 ; 0197-4580
    ISSN (online) 1558-1497
    ISSN 0197-4580
    DOI 10.1016/j.neurobiolaging.2022.11.013
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Dasatinib, a small molecule inhibitor of the Src kinase, reduces the growth and activates apoptosis in pre-neoplastic Barrett's esophagus cell lines: evidence for a noninvasive treatment of high-grade dysplasia.

    Inge, Landon J / Fowler, Aaron J / Paquette, Kimberly M / Richer, Amanda L / Tran, Nhan / Bremner, Ross M

    The Journal of thoracic and cardiovascular surgery

    2013  Band 145, Heft 2, Seite(n) 531–538

    Abstract: Background: Only local ablation (radiofrequency ablation, cryotherapy) or esophagectomy currently is available to treat high-grade dysplasia in Barrett's esophagus. Alternative treatments, specifically chemopreventive strategies, are lacking. Our ... ...

    Abstract Background: Only local ablation (radiofrequency ablation, cryotherapy) or esophagectomy currently is available to treat high-grade dysplasia in Barrett's esophagus. Alternative treatments, specifically chemopreventive strategies, are lacking. Our understanding of the molecular changes of high-grade dysplasia in Barrett's esophagus offers an opportunity to inhibit neoplastic progression of high-grade dysplasia in Barrett's esophagus. Increased activity of the Src kinase and deregulation of the tumor suppressor p27 are features of malignant cells and high-grade dysplasia in Barrett's esophagus. Src phosphorylates p27, inhibiting its regulatory function and increasing cell growth and proliferation. We hypothesized that a small molecule inhibitor of Src might reduce the growth and reverse Src-mediated deregulation of p27 in Barrett's esophagus cells.
    Methods: Immortalized Barrett's esophagus cell lines established from patient biopsies were treated with the Src kinase inhibitor dasatinib and evaluated for p27 localization and protein levels, as well as for effects on the cell cycle and apoptosis using flow cytometry, viability assays, and protein and RNA markers.
    Results: Dasatinib reduced both Src activation and p27 phosphorylation and increased p27 protein levels and nuclear localization. These effects correlated with decreased proliferation, cell-cycle arrest, and activation of apoptosis. Analysis of biopsies of patients with Barrett's esophagus revealed the presence of phosphorylated p27 in high-grade dysplasia, consistent with in vitro findings.
    Conclusions: Dasatinib has considerable antineoplastic effects on Barrett's esophagus cell lines carrying genetic markers associated with dysplasia, which correlates with the reversal of p27 deregulation. These findings suggest that dasatinib has potential as a treatment for patients with high-grade dysplasia and Barrett's esophagus and that p27 holds promise as a biomarker in the clinical use of dasatinib in patients with high-grade dysplasia and Barrett's esophagus.
    Mesh-Begriff(e) Apoptosis/drug effects ; Barrett Esophagus/enzymology ; Barrett Esophagus/genetics ; Barrett Esophagus/pathology ; Biopsy ; Cell Cycle Checkpoints/drug effects ; Cell Line, Tumor ; Cell Proliferation/drug effects ; Cell Survival/drug effects ; Cyclin-Dependent Kinase Inhibitor p27/metabolism ; Dasatinib ; Dose-Response Relationship, Drug ; Enzyme Activation ; Esophageal Neoplasms/enzymology ; Esophageal Neoplasms/genetics ; Esophageal Neoplasms/pathology ; Esophagus/drug effects ; Esophagus/enzymology ; Esophagus/pathology ; Flow Cytometry ; Humans ; Phosphorylation ; Precancerous Conditions/enzymology ; Precancerous Conditions/genetics ; Precancerous Conditions/pathology ; Protein Kinase Inhibitors/pharmacology ; Pyrimidines/pharmacology ; Signal Transduction/drug effects ; Thiazoles/pharmacology ; src-Family Kinases/antagonists & inhibitors ; src-Family Kinases/metabolism
    Chemische Substanzen CDKN1B protein, human ; Protein Kinase Inhibitors ; Pyrimidines ; Thiazoles ; Cyclin-Dependent Kinase Inhibitor p27 (147604-94-2) ; src-Family Kinases (EC 2.7.10.2) ; Dasatinib (RBZ1571X5H)
    Sprache Englisch
    Erscheinungsdatum 2013-02
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3104-5
    ISSN 1097-685X ; 0022-5223
    ISSN (online) 1097-685X
    ISSN 0022-5223
    DOI 10.1016/j.jtcvs.2012.10.041
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Uk I Zs.104: Hefte anzeigen Standort:
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    ab Jg. 2022: Lesesaal (EG)

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  4. Artikel ; Online: miRNA expression profiling in migrating glioblastoma cells: regulation of cell migration and invasion by miR-23b via targeting of Pyk2.

    Loftus, Joseph C / Ross, Julianna T D / Paquette, Kimberly M / Paulino, Vincent M / Nasser, Sara / Yang, Zhongbo / Kloss, Jean / Kim, Seungchan / Berens, Michael E / Tran, Nhan L

    PloS one

    2012  Band 7, Heft 6, Seite(n) e39818

    Abstract: Background: Glioblastoma (GB) is the most common and lethal type of primary brain tumor. Clinical outcome remains poor and is essentially palliative due to the highly invasive nature of the disease. A more thorough understanding of the molecular ... ...

    Abstract Background: Glioblastoma (GB) is the most common and lethal type of primary brain tumor. Clinical outcome remains poor and is essentially palliative due to the highly invasive nature of the disease. A more thorough understanding of the molecular mechanisms that drive glioma invasion is required to limit dispersion of malignant glioma cells.
    Methodology/principal findings: We investigated the potential role of differential expression of microRNAs (miRNA) in glioma invasion by comparing the matched large-scale, genome-wide miRNA expression profiles of migrating and migration-restricted human glioma cells. Migratory and migration-restricted cell populations from seven glioma cell lines were isolated and profiled for miRNA expression. Statistical analyses revealed a set of miRNAs common to all seven glioma cell lines that were significantly down regulated in the migrating cell population relative to cells in the migration-restricted population. Among the down-regulated miRNAs, miR-23b has been reported to target potential drivers of cell migration and invasion in other cell types. Over-expression of miR-23b significantly inhibited glioma cell migration and invasion. A bioinformatics search revealed a conserved target site within the 3' untranslated region (UTR) of Pyk2, a non-receptor tyrosine kinase previously implicated in the regulation of glioma cell migration and invasion. Increased expression of miR-23b reduced the protein expression level of Pyk2 in glioma cells but did not significantly alter the protein expression level of the related focal adhesion kinase FAK. Expression of Pyk2 via a transcript variant missing the 3'UTR in miR-23b-expressing cells partially rescued cell migration, whereas expression of Pyk2 via a transcript containing an intact 3'UTR failed to rescue cell migration.
    Conclusions/significance: Reduced expression of miR-23b enhances glioma cell migration in vitro and invasion ex vivo via modulation of Pyk2 protein expression. The data suggest that specific miRNAs may regulate glioma migration and invasion to influence the progression of this disease.
    Mesh-Begriff(e) Cell Line, Tumor ; Cell Movement/genetics ; Cell Movement/physiology ; Focal Adhesion Kinase 2/genetics ; Focal Adhesion Kinase 2/metabolism ; Gene Expression Regulation, Neoplastic/genetics ; Gene Expression Regulation, Neoplastic/physiology ; Glioblastoma/genetics ; Glioblastoma/metabolism ; Humans ; MicroRNAs/genetics ; MicroRNAs/metabolism
    Chemische Substanzen MIRN23a microRNA, human ; MicroRNAs ; Focal Adhesion Kinase 2 (EC 2.7.10.2)
    Sprache Englisch
    Erscheinungsdatum 2012-06-22
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0039818
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Integrated genomic and epigenomic analysis of breast cancer brain metastasis.

    Salhia, Bodour / Kiefer, Jeff / Ross, Julianna T D / Metapally, Raghu / Martinez, Rae Anne / Johnson, Kyle N / DiPerna, Danielle M / Paquette, Kimberly M / Jung, Sungwon / Nasser, Sara / Wallstrom, Garrick / Tembe, Waibhav / Baker, Angela / Carpten, John / Resau, Jim / Ryken, Timothy / Sibenaller, Zita / Petricoin, Emanuel F / Liotta, Lance A /
    Ramanathan, Ramesh K / Berens, Michael E / Tran, Nhan L

    PloS one

    2014  Band 9, Heft 1, Seite(n) e85448

    Abstract: The brain is a common site of metastatic disease in patients with breast cancer, which has few therapeutic options and dismal outcomes. The purpose of our study was to identify common and rare events that underlie breast cancer brain metastasis. We ... ...

    Abstract The brain is a common site of metastatic disease in patients with breast cancer, which has few therapeutic options and dismal outcomes. The purpose of our study was to identify common and rare events that underlie breast cancer brain metastasis. We performed deep genomic profiling, which integrated gene copy number, gene expression and DNA methylation datasets on a collection of breast brain metastases. We identified frequent large chromosomal gains in 1q, 5p, 8q, 11q, and 20q and frequent broad-level deletions involving 8p, 17p, 21p and Xq. Frequently amplified and overexpressed genes included ATAD2, BRAF, DERL1, DNMTRB and NEK2A. The ATM, CRYAB and HSPB2 genes were commonly deleted and underexpressed. Knowledge mining revealed enrichment in cell cycle and G2/M transition pathways, which contained AURKA, AURKB and FOXM1. Using the PAM50 breast cancer intrinsic classifier, Luminal B, Her2+/ER negative, and basal-like tumors were identified as the most commonly represented breast cancer subtypes in our brain metastasis cohort. While overall methylation levels were increased in breast cancer brain metastasis, basal-like brain metastases were associated with significantly lower levels of methylation. Integrating DNA methylation data with gene expression revealed defects in cell migration and adhesion due to hypermethylation and downregulation of PENK, EDN3, and ITGAM. Hypomethylation and upregulation of KRT8 likely affects adhesion and permeability. Genomic and epigenomic profiling of breast brain metastasis has provided insight into the somatic events underlying this disease, which have potential in forming the basis of future therapeutic strategies.
    Mesh-Begriff(e) Brain Neoplasms/genetics ; Brain Neoplasms/secondary ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Cell Adhesion ; Cell Line, Tumor ; Cell Movement ; Chromosome Aberrations ; DNA Methylation ; Data Mining ; Epigenomics ; Female ; Gene Dosage ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Neoplasm Staging ; Retrospective Studies
    Chemische Substanzen Neoplasm Proteins
    Sprache Englisch
    Erscheinungsdatum 2014-01-29
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0085448
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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