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  1. Book: mRNA decay

    Lamandé, Shireen R.

    methods and protocols

    (Methods in molecular biology ; 1720)

    2018  

    Author's details edited by Shireen R. Lamandé
    Series title Methods in molecular biology ; 1720
    Collection
    Keywords Decay pathways ; mRNA-binding protein targets ; Metabolic labeling ; RNAseq ; Bioinformatics ; Nonsense-mediated mRNA decay ; Tissue homeostasis regulation ; Genome-wide sequencing
    Subject code 610
    Language English
    Size xi, 227 Seiten, Illustrationen, 25.4 cm x 17.8 cm
    Publisher Humana Press
    Publishing place New York, NY
    Publishing country United States
    Document type Book
    HBZ-ID HT019578337
    ISBN 978-1-4939-7539-6 ; 1-4939-7539-0 ; 9781493975402 ; 1493975404
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 7042 -1720- verfügbar in Königswinter Königswinter

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  2. Article: Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.

    Lamandé, Shireen R

    Advances in experimental medicine and biology

    2021  Volume 1348, Page(s) 311–323

    Abstract: Mutations in the genes encoding the major collagen VI isoform, COL6A1, COL6A2 and COL6A3, are responsible for the muscle disorders Bethlem myopathy and Ullrich congenital muscular dystrophy. These disorders form a disease spectrum from mild to severe. ... ...

    Abstract Mutations in the genes encoding the major collagen VI isoform, COL6A1, COL6A2 and COL6A3, are responsible for the muscle disorders Bethlem myopathy and Ullrich congenital muscular dystrophy. These disorders form a disease spectrum from mild to severe. Dominant and recessive mutations are found along the entire spectrum and the clinical phenotype is strongly influenced by the way mutations impede collagen VI protein assembly. Most mutations are in the triple helical domain, towards the N-terminus and they compromise microfibril assembly. Some mutations are found outside the helix in the C- and N-terminal globular domains, but because these regions are highly polymorphic it is difficult to discriminate mutations from rare benign changes without detailed structural and functional studies. Collagen VI deficiency leads to mitochondrial dysfunction, deficient autophagy and increased apoptosis. Therapies that target these consequences have been tested in mouse models and some have shown modest efficacy in small human trials. Antisense therapies for a common mutation that introduces a pseudoexon show promise in cell culture but haven't yet been tested in an animal model. Future therapeutic approaches await new research into how collagen VI deficiency signals downstream consequences.
    MeSH term(s) Animals ; Collagen Type VI/genetics ; Contracture ; Mice ; Muscular Diseases/drug therapy ; Muscular Diseases/genetics ; Muscular Dystrophies/genetics ; Muscular Dystrophies/therapy ; Mutation
    Chemical Substances Collagen Type VI
    Language English
    Publishing date 2021-11-22
    Publishing country United States
    Document type Journal Article
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-3-030-80614-9_14
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  3. Article: Multiscale Strain Transfer in Cartilage.

    Boos, Manuela A / Lamandé, Shireen R / Stok, Kathryn S

    Frontiers in cell and developmental biology

    2022  Volume 10, Page(s) 795522

    Abstract: The transfer of stress and strain signals between the extracellular matrix (ECM) and cells is crucial for biochemical and biomechanical cues that are required for tissue morphogenesis, differentiation, growth, and homeostasis. In cartilage tissue, the ... ...

    Abstract The transfer of stress and strain signals between the extracellular matrix (ECM) and cells is crucial for biochemical and biomechanical cues that are required for tissue morphogenesis, differentiation, growth, and homeostasis. In cartilage tissue, the heterogeneity in spatial variation of ECM molecules leads to a depth-dependent non-uniform strain transfer and alters the magnitude of forces sensed by cells in articular and fibrocartilage, influencing chondrocyte metabolism and biochemical response. It is not fully established how these nonuniform forces ultimately influence cartilage health, maintenance, and integrity. To comprehend tissue remodelling in health and disease, it is fundamental to investigate how these forces, the ECM, and cells interrelate. However, not much is known about the relationship between applied mechanical stimulus and resulting spatial variations in magnitude and sense of mechanical stimuli within the chondrocyte's microenvironment. Investigating multiscale strain transfer and hierarchical structure-function relationships in cartilage is key to unravelling how cells receive signals and how they are transformed into biosynthetic responses. Therefore, this article first reviews different cartilage types and chondrocyte mechanosensing. Following this, multiscale strain transfer through cartilage tissue and the involvement of individual ECM components are discussed. Finally, insights to further understand multiscale strain transfer in cartilage are outlined.
    Language English
    Publishing date 2022-02-04
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2737824-X
    ISSN 2296-634X
    ISSN 2296-634X
    DOI 10.3389/fcell.2022.795522
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  4. Article ; Online: Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.

    Bateman, John F / Shoulders, Matthew D / Lamandé, Shireen R

    Connective tissue research

    2022  Volume 63, Issue 3, Page(s) 210–227

    Abstract: Mutations in collagen genes cause a broad range of connective tissue pathologies. Structural mutations that impact procollagen assembly or triple helix formation and stability are a common and important mutation class. How misfolded procollagens engage ... ...

    Abstract Mutations in collagen genes cause a broad range of connective tissue pathologies. Structural mutations that impact procollagen assembly or triple helix formation and stability are a common and important mutation class. How misfolded procollagens engage with the cellular proteostasis machinery and whether they can elicit a cytotoxic unfolded protein response (UPR) is a topic of considerable research interest. Such interest is well justified since modulating the UPR could offer a new approach to treat collagenopathies for which there are no current disease mechanism-targeting therapies. This review scrutinizes the evidence underpinning the view that endoplasmic reticulum stress and chronic UPR activation contributes significantly to the pathophysiology of the collagenopathies. While there is strong evidence that the UPR contributes to the pathology for collagen X misfolding mutations, the evidence that misfolding mutations in other collagen types induce a canonical, cytotoxic UPR is incomplete. To gain a more comprehensive understanding about how the UPR amplifies to pathology, and thus what types of manipulations of the UPR might have therapeutic relevance, much more information is needed about how specific misfolding mutation types engage differentially with the UPR and downstream signaling responses. Most importantly, since the capacity of the proteostasis machinery to respond to collagen misfolding is likely to vary between cell types, reflecting their functional roles in collagen and extracellular matrix biosynthesis, detailed studies on the UPR should focus as much as possible on the actual target cells involved in the collagen pathologies.
    MeSH term(s) Collagen/genetics ; Endoplasmic Reticulum Stress ; Mutation ; Pathology, Molecular ; Unfolded Protein Response
    Chemical Substances Collagen (9007-34-5)
    Language English
    Publishing date 2022-02-26
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 185551-7
    ISSN 1607-8438 ; 0091-1690 ; 0300-8207
    ISSN (online) 1607-8438
    ISSN 0091-1690 ; 0300-8207
    DOI 10.1080/03008207.2022.2036735
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1093: 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.MO 44: Show issues

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  5. Article ; Online: Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.

    Lilianty, Jinia / Bateman, John F / Lamandé, Shireen R

    Stem cell research

    2021  Volume 56, Page(s) 102515

    Abstract: The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human ... ...

    Abstract The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRIi019-A, using CRISPR-Cas9 gene editing. The gene-edited mutant line, MCRIi019-A-7, exhibited normal iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into three embryonic germ layers, and normal karyotype. Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing.
    MeSH term(s) CRISPR-Cas Systems/genetics ; Collagen Type II/genetics ; Gene Editing ; Humans ; Induced Pluripotent Stem Cells ; Mutation ; Osteochondrodysplasias ; Polyenes
    Chemical Substances COL2A1 protein, human ; Collagen Type II ; Polyenes ; A 7 (61613-93-2)
    Language English
    Publishing date 2021-08-25
    Publishing country England
    Document type 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.2021.102515
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  6. Article ; Online: Genetic Disorders of the Extracellular Matrix.

    Lamandé, Shireen R / Bateman, John F

    Anatomical record (Hoboken, N.J. : 2007)

    2019  Volume 303, Issue 6, Page(s) 1527–1542

    Abstract: Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the ... ...

    Abstract Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of many ECM components. The pathological consequences of ECM protein mutations depend on its tissue distribution, tissue function, and on the nature of the mutation. The prevalent paradigm for the molecular pathology has been that there are two global mechanisms. First, mutations that reduce the production of ECM proteins impair matrix integrity largely due to quantitative ECM defects. Second, mutations altering protein structure may reduce protein secretion but also introduce dominant negative effects in ECM formation, structure and/or stability. Recent studies show that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, makes a significant contribution to the pathophysiology. This suggests that targeting ER-stress may offer a new therapeutic strategy in a range of ECM disorders caused by protein misfolding mutations. Anat Rec, 2019. © 2019 The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.
    MeSH term(s) Animals ; Endoplasmic Reticulum Stress/genetics ; Extracellular Matrix/genetics ; Extracellular Matrix/metabolism ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Humans ; Mutation ; Unfolded Protein Response/genetics
    Chemical Substances Extracellular Matrix Proteins
    Language English
    Publishing date 2019-03-06
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2269667-2
    ISSN 1932-8494 ; 1932-8486
    ISSN (online) 1932-8494
    ISSN 1932-8486
    DOI 10.1002/ar.24086
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    In stock of ZB MED Cologne/Königswinter

    Ub I Zs.65: 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)

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  7. Article ; Online: Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

    Jinia Lilianty / John F. Bateman / Shireen R. Lamandé

    Stem Cell Research, Vol 56, Iss , Pp 102515- (2021)

    2021  

    Abstract: The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human ... ...

    Abstract The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRIi019-A, using CRISPR-Cas9 gene editing. The gene-edited mutant line, MCRIi019-A-7, exhibited normal iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into three embryonic germ layers, and normal karyotype. Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Multiscale Strain Transfer in Cartilage

    Manuela A. Boos / Shireen R. Lamandé / Kathryn S. Stok

    Frontiers in Cell and Developmental Biology, Vol

    2022  Volume 10

    Abstract: The transfer of stress and strain signals between the extracellular matrix (ECM) and cells is crucial for biochemical and biomechanical cues that are required for tissue morphogenesis, differentiation, growth, and homeostasis. In cartilage tissue, the ... ...

    Abstract The transfer of stress and strain signals between the extracellular matrix (ECM) and cells is crucial for biochemical and biomechanical cues that are required for tissue morphogenesis, differentiation, growth, and homeostasis. In cartilage tissue, the heterogeneity in spatial variation of ECM molecules leads to a depth-dependent non-uniform strain transfer and alters the magnitude of forces sensed by cells in articular and fibrocartilage, influencing chondrocyte metabolism and biochemical response. It is not fully established how these nonuniform forces ultimately influence cartilage health, maintenance, and integrity. To comprehend tissue remodelling in health and disease, it is fundamental to investigate how these forces, the ECM, and cells interrelate. However, not much is known about the relationship between applied mechanical stimulus and resulting spatial variations in magnitude and sense of mechanical stimuli within the chondrocyte’s microenvironment. Investigating multiscale strain transfer and hierarchical structure-function relationships in cartilage is key to unravelling how cells receive signals and how they are transformed into biosynthetic responses. Therefore, this article first reviews different cartilage types and chondrocyte mechanosensing. Following this, multiscale strain transfer through cartilage tissue and the involvement of individual ECM components are discussed. Finally, insights to further understand multiscale strain transfer in cartilage are outlined.
    Keywords cartilage ; chondrocytes ; mechanotransduction ; tissue strain ; ECM ; heterogeneity ; Biology (General) ; QH301-705.5
    Subject code 571
    Language English
    Publishing date 2022-02-01T00:00:00Z
    Publisher Frontiers Media S.A.
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Contrast-Enhanced Micro-Computed Tomography for 3D Visualization and Quantification of Glycosaminoglycans in Different Cartilage Types.

    Boos, Manuela A / Grinstaff, Mark W / Lamandé, Shireen R / Stok, Kathryn S

    Cartilage

    2021  Volume 13, Issue 2_suppl, Page(s) 486S–494S

    Abstract: ... with an R: Conclusions: CA4+-enhanced microCT enables assessment of 3-dimensiona distribution and GAG ...

    Abstract Objective: To compare CA4+-enhanced micro-computed tomography (microCT) of bovine articular, meniscal, nasal, and auricular cartilage, each of which possesses a different extracellular matrix (ECM) composition and structure.
    Design: The diffusion kinetics of CA4+ in different native cartilage types were assessed over 20 hours. The feasibility of CA4+-enhanced microCT to visualize and quantify glycosaminoglycans (GAGs) in these different tissues was tested using safranin-O staining and 1,9-dimethylmethylene blue assay.
    Results: The diffusion kinetics of CA4+ in auricular cartilage are significantly slower compared with all other cartilage types. Total GAG content per volume correlates to microCT attenuation with an R
    Conclusions: CA4+-enhanced microCT enables assessment of 3-dimensiona distribution and GAG content in different types of cartilage and has promise as an
    MeSH term(s) Animals ; Cartilage, Articular/chemistry ; Cartilage, Articular/diagnostic imaging ; Cattle ; Contrast Media ; Glycosaminoglycans/analysis ; Imaging, Three-Dimensional ; X-Ray Microtomography
    Chemical Substances Contrast Media ; Glycosaminoglycans
    Language English
    Publishing date 2021-10-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2515870-3
    ISSN 1947-6043 ; 1947-6035
    ISSN (online) 1947-6043
    ISSN 1947-6035
    DOI 10.1177/19476035211053820
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  10. Article ; Online: Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in

    Woodman, Keryn G / Coles, Chantal A / Lamandé, Shireen R / White, Jason D

    Molecules (Basel, Switzerland)

    2021  Volume 26, Issue 4

    Abstract: Duchenne muscular dystrophy (DMD) is a progressive fatal neuromuscular disorder with no cure. Therapies to restore dystrophin deficiency have been approved in some jurisdictions but long-term effectiveness is yet to be established. There is a need to ... ...

    Abstract Duchenne muscular dystrophy (DMD) is a progressive fatal neuromuscular disorder with no cure. Therapies to restore dystrophin deficiency have been approved in some jurisdictions but long-term effectiveness is yet to be established. There is a need to develop alternative strategies to treat DMD. Resveratrol is a nutraceutical with anti-inflammatory properties. Previous studies have shown high doses (100-400 mg/kg bodyweight/day) benefit
    MeSH term(s) Animals ; Biomarkers/metabolism ; Gene Expression Regulation/drug effects ; Hypertrophy/chemically induced ; Hypertrophy/metabolism ; Hypertrophy/pathology ; Inflammation/metabolism ; Mice ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/pathology ; Necrosis/drug therapy ; Resveratrol/pharmacology ; Resveratrol/therapeutic use
    Chemical Substances Biomarkers ; Resveratrol (Q369O8926L)
    Language English
    Publishing date 2021-02-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 1413402-0
    ISSN 1420-3049 ; 1431-5165 ; 1420-3049
    ISSN (online) 1420-3049
    ISSN 1431-5165 ; 1420-3049
    DOI 10.3390/molecules26040853
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    In stock of ZB MED Cologne/Königswinter

    Zs.MO 81: Show issues

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