LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 6 of total 6

Search options

  1. Article ; Online: Imaging in Type 1 Diabetes, Current Perspectives and Directions.

    Tinklepaugh, Jay / Mamrak, Nicholas E

    Molecular imaging and biology

    2023  Volume 25, Issue 6, Page(s) 1142–1149

    Abstract: Type 1 diabetes (T1D) is characterized by the autoimmune-mediated attack of insulin-producing beta cells in the pancreas, leading to reliance on exogenous insulin to control a patient's blood glucose levels. As progress is being made in understanding the ...

    Abstract Type 1 diabetes (T1D) is characterized by the autoimmune-mediated attack of insulin-producing beta cells in the pancreas, leading to reliance on exogenous insulin to control a patient's blood glucose levels. As progress is being made in understanding the pathophysiology of the disease and how to better develop therapies to treat it, there is an increasing need for monitoring technologies to quantify beta cell mass and function throughout T1D progression and beta cell replacement therapy. Molecular imaging techniques offer a possible solution through both radiologic and non-radiologic means including positron emission tomography, magnetic resonance imaging, electron paramagnetic resonance imaging, and spatial omics. This commentary piece outlines the role of molecular imaging in T1D research and highlights the need for further applications of such methodologies in T1D.
    MeSH term(s) Humans ; Diabetes Mellitus, Type 1/pathology ; Pancreas ; Insulin-Secreting Cells/pathology ; Insulin ; Positron-Emission Tomography
    Chemical Substances Insulin
    Language English
    Publishing date 2023-11-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2079160-4
    ISSN 1860-2002 ; 1536-1632
    ISSN (online) 1860-2002
    ISSN 1536-1632
    DOI 10.1007/s11307-023-01873-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6468: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

    Mamrak, Nicholas E / Shimamura, Akiko / Howlett, Niall G

    Blood reviews

    2016  Volume 31, Issue 3, Page(s) 93–99

    Abstract: Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately ... ...

    Abstract Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21. This review summarizes the discovery of these new FA genes and describes how these proteins integrate into the FA-BRCA pathway to maintain genome stability and critically prevent early-onset BMF and cancer.
    MeSH term(s) BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Bone Marrow/metabolism ; Bone Marrow/pathology ; DNA Damage ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Fanconi Anemia/etiology ; Fanconi Anemia/metabolism ; Fanconi Anemia/pathology ; Fanconi Anemia Complementation Group Proteins/genetics ; Fanconi Anemia Complementation Group Proteins/metabolism ; Genomic Instability ; Homologous Recombination ; Humans ; Mad2 Proteins/genetics ; Mad2 Proteins/metabolism ; Mutation ; Rad51 Recombinase/genetics ; Rad51 Recombinase/metabolism ; Signal Transduction ; Ubiquitin/metabolism ; Ubiquitin-Conjugating Enzymes/genetics ; Ubiquitin-Conjugating Enzymes/metabolism
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; DNA-Binding Proteins ; Fanconi Anemia Complementation Group Proteins ; MAD2L2 protein, human ; Mad2 Proteins ; Ubiquitin ; XRCC2 protein, human ; UBE2T protein, human (EC 2.3.2.23) ; Ubiquitin-Conjugating Enzymes (EC 2.3.2.23) ; Rad51 Recombinase (EC 2.7.7.-)
    Language English
    Publishing date 2016-10-13
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2016.10.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2207: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: RS-FISH: precise, interactive, fast, and scalable FISH spot detection.

    Bahry, Ella / Breimann, Laura / Zouinkhi, Marwan / Epstein, Leo / Kolyvanov, Klim / Mamrak, Nicholas / King, Benjamin / Long, Xi / Harrington, Kyle I S / Lionnet, Timothée / Preibisch, Stephan

    Nature methods

    2022  Volume 19, Issue 12, Page(s) 1563–1567

    Abstract: Fluorescent in-situ hybridization (FISH)-based methods extract spatially resolved genetic and epigenetic information from biological samples by detecting fluorescent spots in microscopy images, an often challenging task. We present Radial Symmetry-FISH ( ... ...

    Abstract Fluorescent in-situ hybridization (FISH)-based methods extract spatially resolved genetic and epigenetic information from biological samples by detecting fluorescent spots in microscopy images, an often challenging task. We present Radial Symmetry-FISH (RS-FISH), an accurate, fast, and user-friendly software for spot detection in two- and three-dimensional images. RS-FISH offers interactive parameter tuning and readily scales to large datasets and image volumes of cleared or expanded samples using distributed processing on workstations, clusters, or the cloud. RS-FISH maintains high detection accuracy and low localization error across a wide range of signal-to-noise ratios, a key feature for single-molecule FISH, spatial transcriptomics, or spatial genomics applications.
    MeSH term(s) In Situ Hybridization, Fluorescence ; Coloring Agents ; Epigenomics ; Genomics ; Microscopy
    Chemical Substances Coloring Agents
    Language English
    Publishing date 2022-11-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2169522-2
    ISSN 1548-7105 ; 1548-7091
    ISSN (online) 1548-7105
    ISSN 1548-7091
    DOI 10.1038/s41592-022-01669-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6022: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: FANCD2 Binding to H4K20me2 via a Methyl-Binding Domain Is Essential for Efficient DNA Cross-Link Repair.

    Paquin, Karissa L / Mamrak, Nicholas E / Garzon, Jada L / Cantres-Velez, Juan A / Azzinaro, Paul A / Vuono, Elizabeth A / Lima, Kevin E / Camberg, Jodi L / Howlett, Niall G

    Molecular and cellular biology

    2019  Volume 39, Issue 15

    Abstract: Fanconi anemia (FA) is an inherited disease characterized by bone marrow failure and increased cancer risk. FA is caused by mutation of any 1 of 22 genes, and the FA proteins function cooperatively to repair DNA interstrand cross-links (ICLs). A central ... ...

    Abstract Fanconi anemia (FA) is an inherited disease characterized by bone marrow failure and increased cancer risk. FA is caused by mutation of any 1 of 22 genes, and the FA proteins function cooperatively to repair DNA interstrand cross-links (ICLs). A central step in the activation of the FA pathway is the monoubiquitination of the FANCD2 and FANCI proteins, which occurs within chromatin. How FANCD2 and FANCI are anchored to chromatin remains unknown. In this study, we identify and characterize a FANCD2 histone-binding domain (HBD) and embedded methyl-lysine-binding domain (MBD) and demonstrate binding specificity for H4K20me2. Disruption of the HBD/MBD compromises FANCD2 chromatin binding and nuclear focus formation and its ability to promote error-free DNA interstrand cross-link repair, leading to increased error-prone repair and genome instability. Our study functionally describes the first FA protein chromatin reader domain and establishes an important link between this human genetic disease and chromatin plasticity.
    MeSH term(s) Binding Sites ; Cell Line ; Chromatin/metabolism ; DNA Repair ; Fanconi Anemia/genetics ; Fanconi Anemia Complementation Group D2 Protein/chemistry ; Fanconi Anemia Complementation Group D2 Protein/genetics ; Fanconi Anemia Complementation Group D2 Protein/metabolism ; Genomic Instability ; HeLa Cells ; Histones/chemistry ; Histones/metabolism ; Humans ; Models, Molecular ; Protein Binding ; Protein Conformation
    Chemical Substances Chromatin ; FANCD2 protein, human ; Fanconi Anemia Complementation Group D2 Protein ; Histones
    Language English
    Publishing date 2019-07-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 779397-2
    ISSN 1098-5549 ; 0270-7306
    ISSN (online) 1098-5549
    ISSN 0270-7306
    DOI 10.1128/MCB.00194-19
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1666: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Synthetic regulatory reconstitution reveals principles of mammalian

    Pinglay, Sudarshan / Bulajić, Milica / Rahe, Dylan P / Huang, Emily / Brosh, Ran / Mamrak, Nicholas E / King, Benjamin R / German, Sergei / Cadley, John A / Rieber, Lila / Easo, Nicole / Lionnet, Timothée / Mahony, Shaun / Maurano, Matthew T / Holt, Liam J / Mazzoni, Esteban O / Boeke, Jef D

    Science (New York, N.Y.)

    2022  Volume 377, Issue 6601, Page(s) eabk2820

    Abstract: ... ...

    Abstract Precise
    MeSH term(s) Animals ; Body Patterning/genetics ; Enhancer Elements, Genetic ; Gene Expression Regulation, Developmental ; Genes, Homeobox ; Genome ; Homeodomain Proteins/genetics ; Mice ; Rats ; Transcription, Genetic
    Chemical Substances Homeodomain Proteins
    Language English
    Publishing date 2022-07-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abk2820
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 27: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 77: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: FANCD2 Binding to H4K20me2 via a Methyl-Binding Domain Is Essential for Efficient DNA Cross-Link Repair

    Paquin, Karissa L. / Mamrak, Nicholas E. / Garzon, Jada L. / Cantres-Velez, Juan A. / Azzinaro, Paul A. / Vuono, Elizabeth A. / Lima, Kevin E. / Camberg, Jodi L. / Howlett, Niall G.

    Molecular and Cellular Biology. 2019 Aug. 1, v. 39, no. 15 p.e00194-19-

    2019  

    Abstract: Fanconi anemia (FA) is an inherited disease characterized by bone marrow failure and increased cancer risk. FA is caused by mutation of any 1 of 22 genes, and the FA proteins function cooperatively to repair DNA interstrand cross-links (ICLs). A central ... ...

    Abstract Fanconi anemia (FA) is an inherited disease characterized by bone marrow failure and increased cancer risk. FA is caused by mutation of any 1 of 22 genes, and the FA proteins function cooperatively to repair DNA interstrand cross-links (ICLs). A central step in the activation of the FA pathway is the monoubiquitination of the FANCD2 and FANCI proteins, which occurs within chromatin. How FANCD2 and FANCI are anchored to chromatin remains unknown. In this study, we identify and characterize a FANCD2 histone-binding domain (HBD) and embedded methyl-lysine-binding domain (MBD) and demonstrate binding specificity for H4K20me2. Disruption of the HBD/MBD compromises FANCD2 chromatin binding and nuclear focus formation and its ability to promote error-free DNA interstrand cross-link repair, leading to increased error-prone repair and genome instability. Our study functionally describes the first FA protein chromatin reader domain and establishes an important link between this human genetic disease and chromatin plasticity.
    Keywords DNA ; DNA repair ; Fanconi anemia ; bone marrow ; chromatin ; crosslinking ; genetic instability ; humans ; plasticity ; risk ; genome instability ; ubiquitin
    Language English
    Dates of publication 2019-0801
    Publishing place Taylor & Francis
    Document type Article ; Online
    ZDB-ID 779397-2
    ISSN 1098-5549 ; 0270-7306
    ISSN (online) 1098-5549
    ISSN 0270-7306
    DOI 10.1128/MCB.00194-19
    Database NAL-Catalogue (AGRICOLA)

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1666: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top