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  1. Article ; Online: A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

    Vermeer, Mathilde C S C / Al-Shinnag, Mohammad / Silljé, Herman H W / Gaytan, Antonio Esquivel / Murrell, Dedee F / McGaughran, Julie / Melbourne, Wei / Cowan, Timothy / van den Akker, Peter C / van Spaendonck-Zwarts, Karin Y / van der Meer, Peter / Bolling, Maria C

    The British journal of dermatology

    2022  Volume 187, Issue 6, Page(s) 1045–1048

    Abstract: This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a ... ...

    Abstract This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.
    MeSH term(s) Humans ; Cardiomyopathy, Dilated/genetics ; Codon, Initiator ; Epidermolysis Bullosa Simplex/genetics ; Intermediate Filaments ; Mutation/genetics ; Phenotype ; Repressor Proteins/genetics
    Chemical Substances Codon, Initiator ; KLHL24 protein, human ; Repressor Proteins
    Language English
    Publishing date 2022-09-09
    Publishing country England
    Document type Letter
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1111/bjd.21832
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa.

    Venugopal, Supriya S / Yan, Wenfei / Frew, John W / Cohn, Heather I / Rhodes, Lesley M / Tran, Kim / Melbourne, Wei / Nelson, Janis A / Sturm, Marian / Fogarty, Janice / Marinkovich, M Peter / Igawa, Satomi / Ishida-Yamamoto, Akemi / Murrell, Dedee F

    Journal of the American Academy of Dermatology

    2013  Volume 69, Issue 6, Page(s) 898–908.e7

    Abstract: Background: Chronic wounds are a major source of morbidity and mortality in generalized severe recessive dystrophic epidermolysis bullosa (RDEB-GS).: Objective: This was a phase II double-blinded randomized controlled trial of intralesional ... ...

    Abstract Background: Chronic wounds are a major source of morbidity and mortality in generalized severe recessive dystrophic epidermolysis bullosa (RDEB-GS).
    Objective: This was a phase II double-blinded randomized controlled trial of intralesional allogeneic cultured fibroblasts in suspension solution versus suspension solution alone for wound healing in RDEB-GS.
    Methods: Adult patients with RDEB-GS were screened for chronic ulcers and reduced collagen VII expression. Up to 6 pairs of symmetric wounds were measured and biopsied at baseline, then randomized to cultured allogeneic fibroblasts in a crystalloid suspension solution with 2% albumin or suspension solution alone. Ulcer size, collagen VII protein and messenger RNA expression, anchoring fibril numbers, morphology, and inflammatory markers were measured at 2 weeks and at 3, 6, and 12 months.
    Results: All wounds healed significantly more rapidly with fibroblasts and vehicle injections, with an area decrease of 50% by 12 weeks, compared with noninjected wounds. Collagen VII expression increased to a similar degree in both study arms in wounds from 3 of 5 patients.
    Limitations: The number of patients with RDEB-GS who met inclusion criteria was a limitation, as was 1 trial center rather than multicenter.
    Conclusions: The injection of both allogeneic fibroblasts and suspension solution alone improved wound healing in chronic nonhealing RDEB-GS wounds independently of collagen VII regeneration. This may provide feasible therapy for wound healing in patients with RDEB-GS.
    MeSH term(s) Adult ; Double-Blind Method ; Epidermolysis Bullosa Dystrophica/therapy ; Female ; Fibroblasts/transplantation ; Humans ; Injections, Intradermal ; Male ; Transplantation, Homologous ; Wound Healing ; Young Adult
    Language English
    Publishing date 2013-12
    Publishing country United States
    Document type Clinical Trial, Phase II ; Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2013.08.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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