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  1. Article ; Online: A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier.

    Cho, Min-Sub / Lee, Jong-Mok

    Acta neurologica Belgica

    2020  Volume 121, Issue 1, Page(s) 287–289

    MeSH term(s) Exons/genetics ; Female ; Gene Deletion ; Heterozygote ; Humans ; Middle Aged ; Multiplex Polymerase Chain Reaction/methods ; Muscular Dystrophy, Duchenne/diagnostic imaging ; Muscular Dystrophy, Duchenne/genetics ; Mutation/genetics ; Pedigree
    Language English
    Publishing date 2020-02-24
    Publishing country Italy
    Document type Case Reports ; Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-020-01305-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui I Zs.57: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Crumbs proteins regulate layered retinal vascular development required for vision

    Son, Sunggeun / Cho, Minsub / Lee, Junyeop

    Biochemical and biophysical research communications. 2020 Jan. 22, v. 521, no. 4

    2020  

    Abstract: Crumbs proteins are transmembrane proteins that regulate cellular apico-basal polarity. Animals carrying mutated crb1 present retinal vascular abnormalities; this mutation is associated with progressive retinal degeneration with intraretinal cystoid ... ...

    Abstract Crumbs proteins are transmembrane proteins that regulate cellular apico-basal polarity. Animals carrying mutated crb1 present retinal vascular abnormalities; this mutation is associated with progressive retinal degeneration with intraretinal cystoid fluid collection in humans. This study aimed to evaluate a potential role of crumbs proteins in retinal vascular development and maintenance. We demonstrated that crumbs homologues (CRBs) were differentially expressed and changed dramatically during mouse retinal vascular development. Intravitreal injection of CRB1 and CRB2 siRNA induced delayed development of the deep capillary plexus and premature development of the intermediate capillary plexus, resulting in disrupted vascular integrity. However, microfluidic chip assay using human retinal endothelial cells revealed that CRBs do not directly affect in vitro retinal angiogenesis. CRBs control retinal angiogenesis by regulating neuroglial vascular endothelial growth factor-A (VEGFA) and matrix metalloproteinase-3 expression. These findings demonstrate a pivotal role of CRBs in providing critical neurotrophic support through normal layered vascular network development and maintenance. This implies that preserving CRBs and restoring layered retinal vascular networks could be novel targets for preventing vision-threatening retinal diseases.
    Keywords angiogenesis ; humans ; intravitreal injection ; mice ; mutation ; organ-on-a-chip ; research ; retinal degeneration ; vascular endothelial growth factor A ; vision
    Language English
    Dates of publication 2020-0122
    Size p. 939-946.
    Publishing place Elsevier Inc.
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 205723-2
    ISSN 0006-291X ; 0006-291X
    ISSN (online) 0006-291X
    ISSN 0006-291X
    DOI 10.1016/j.bbrc.2019.11.013
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

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  3. Article ; Online: Reversible striatal hypermetabolism of acquired chorea associated with polycythemia vera.

    Hong, Chae Moon / Yang, Seok-Yeol / Cho, Minsub / Baek, Dong Won / Ryu, Ho-Sung

    Acta neurologica Belgica

    2022  Volume 123, Issue 5, Page(s) 1997–2000

    MeSH term(s) Humans ; Polycythemia Vera/complications ; Chorea/diagnostic imaging ; Chorea/etiology ; Corpus Striatum/diagnostic imaging
    Language English
    Publishing date 2022-08-03
    Publishing country Italy
    Document type Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-022-02058-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui I Zs.57: 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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  4. Article ; Online: Crumbs proteins regulate layered retinal vascular development required for vision.

    Son, Sunggeun / Cho, Minsub / Lee, Junyeop

    Biochemical and biophysical research communications

    2019  Volume 521, Issue 4, Page(s) 939–946

    Abstract: Crumbs proteins are transmembrane proteins that regulate cellular apico-basal polarity. Animals carrying mutated crb1 present retinal vascular abnormalities; this mutation is associated with progressive retinal degeneration with intraretinal cystoid ... ...

    Abstract Crumbs proteins are transmembrane proteins that regulate cellular apico-basal polarity. Animals carrying mutated crb1 present retinal vascular abnormalities; this mutation is associated with progressive retinal degeneration with intraretinal cystoid fluid collection in humans. This study aimed to evaluate a potential role of crumbs proteins in retinal vascular development and maintenance. We demonstrated that crumbs homologues (CRBs) were differentially expressed and changed dramatically during mouse retinal vascular development. Intravitreal injection of CRB1 and CRB2 siRNA induced delayed development of the deep capillary plexus and premature development of the intermediate capillary plexus, resulting in disrupted vascular integrity. However, microfluidic chip assay using human retinal endothelial cells revealed that CRBs do not directly affect in vitro retinal angiogenesis. CRBs control retinal angiogenesis by regulating neuroglial vascular endothelial growth factor-A (VEGFA) and matrix metalloproteinase-3 expression. These findings demonstrate a pivotal role of CRBs in providing critical neurotrophic support through normal layered vascular network development and maintenance. This implies that preserving CRBs and restoring layered retinal vascular networks could be novel targets for preventing vision-threatening retinal diseases.
    MeSH term(s) Animals ; Animals, Newborn ; Cells, Cultured ; Electroretinography ; Endothelial Cells ; Eye Proteins/metabolism ; Gene Expression Regulation, Developmental ; Humans ; Matrix Metalloproteinase 3/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Neovascularization, Physiologic/genetics ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Retina/cytology ; Retina/drug effects ; Retina/pathology ; Retinal Vessels/growth & development ; Retinal Vessels/metabolism ; Vascular Endothelial Growth Factor A/metabolism ; Vascular Endothelial Growth Factor A/pharmacology
    Chemical Substances CRB1 protein, human ; Crb1 protein, mouse ; Crb2 protein, mouse ; Eye Proteins ; Membrane Proteins ; Nerve Tissue Proteins ; Vascular Endothelial Growth Factor A ; Matrix Metalloproteinase 3 (EC 3.4.24.17) ; Mmp3 protein, mouse (EC 3.4.24.17)
    Language English
    Publishing date 2019-11-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 205723-2
    ISSN 1090-2104 ; 0006-291X ; 0006-291X
    ISSN (online) 1090-2104 ; 0006-291X
    ISSN 0006-291X
    DOI 10.1016/j.bbrc.2019.11.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 116: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
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  5. Article: A Case of Delayed Oculo-Palato-Brachial Tremor after Pontine Infarction.

    Ryu, Ho-Sung / Cho, Minsub / Shin, Daeun / Hwang, Yang-Ha

    Journal of movement disorders

    2020  Volume 14, Issue 2, Page(s) 161–163

    Language English
    Publishing date 2020-09-21
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 3021788-X
    ISSN 2093-4939 ; 2005-940X
    ISSN (online) 2093-4939
    ISSN 2005-940X
    DOI 10.14802/jmd.20077
    Database MEDical Literature Analysis and Retrieval System OnLINE

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