Publications by authors named "Hillegonda J Meijer"

Article Synopsis
  • Desmosomes are important protein structures that help cells stick together, and their dysfunction can lead to skin and heart problems.
  • This study identifies TUFT1 as a protein associated with desmosomes, particularly involved in maintaining skin integrity, with a specific genetic mutation linked to skin issues in two siblings.
  • The research also demonstrates that lack of TUFT1 impacts skin cell structure and toughness, and a mouse model with TUFT1 removed displayed similar skin fragility and related symptoms.
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Background: Direct immunofluorescence (DIF) microscopy of a skin biopsy specimen is the reference standard for the diagnosis of pemphigoid diseases (PDs). Serration pattern analysis enables the differentiation of epidermolysis bullosa acquisita (EBA) from other PDs using DIF microscopy alone. However, practice gaps need to be addressed in order to implement this technique in the routine diagnostic procedure.

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Background: The demonstration of tissue-bound immunoreactants by direct immunofluorescence microscopy (DIF) is a valuable parameter in the diagnosis of various autoimmune and immunecomplex-mediated skin diseases. For preservation of tissue-bound immunoreactants, biopsies are usually fresh-frozen in liquid nitrogen or transported in Michel's fixative. But even optimally preserved tissue specimens are no guarantee for the correct diagnosis by DIF, especially when weak to moderate IgG fluorescence of the epidermal basement membrane zone is involved.

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