Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes

Ling, Xia; Dong, Shujing; Zhang, Li

doi:10.1016/j.acthis.2023.152010

Cited by 2 publications

(2 citation statements)

References 36 publications

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“…The classic form of VS is caused by mutations in the GJB2 gene, while a variant form of VS, characterized by ichthyosis and VS without hearing loss, is caused by a single-base pair insertion mutation in the LOR gene, encoding for loricrin (Govender and Pillay, 2023). Both "classical" form and the variant form of VS are characterized by pseudoainhum (Ling et al, 2023).…”

Section: Vohwinkel Syndromementioning

confidence: 99%

“…Cx26-G130V, located in the second intracellular domain, was also associated with VS, in addition to PPK (Snoeckx et al, 2005;Iossa et al, 2009). HaCaT cells expressing Cx26-G130V or Cx26-D66H had reduced proliferation and migration rate in addition to decreased transforming growth factor β1 (TGF-β1) expression compared to control cells (Ling et al, 2023). Treatment of cells with TGF-β1 inhibitor decreased proliferation in mutant cells while addition of TGF-β1 rescued the proliferation and migration phenotype, which might indicate the potential of low dose of TGF-β1 for VS treatment.…”

Section: Vohwinkel Syndromementioning

confidence: 99%

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Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions

Yasarbas,

Inal,

Yildirim

et al. 2024

Front. Physiol.

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The epidermis, the outermost layer of the skin, serves as a protective barrier against external factors. Epidermal differentiation, a tightly regulated process essential for epidermal homeostasis, epidermal barrier formation and skin integrity maintenance, is orchestrated by several players, including signaling molecules, calcium gradient and junctional complexes such as gap junctions (GJs). GJ proteins, known as connexins facilitate cell-to-cell communication between adjacent keratinocytes. Connexins can function as either hemichannels or GJs, depending on their interaction with other connexons from neighboring keratinocytes. These channels enable the transport of metabolites, cAMP, microRNAs, and ions, including Ca2+, across cell membranes. At least ten distinct connexins are expressed within the epidermis and mutations in at least five of them has been linked to various skin disorders. Connexin mutations may cause aberrant channel activity by altering their synthesis, their gating properties, their intracellular trafficking, and the assembly of hemichannels and GJ channels. In addition to mutations, connexin expression is dysregulated in other skin conditions including psoriasis, chronic wound and skin cancers, indicating the crucial role of connexins in skin homeostasis. Current treatment options for conditions with mutant or altered connexins are limited and primarily focus on symptom management. Several therapeutics, including non-peptide chemicals, antibodies, mimetic peptides and allele-specific small interfering RNAs are promising in treating connexin-related skin disorders. Since connexins play crucial roles in maintaining epidermal homeostasis as shown with linkage to a range of skin disorders and cancer, further investigations are warranted to decipher the molecular and cellular alterations within cells due to mutations or altered expression, leading to abnormal proliferation and differentiation. This would also help characterize the roles of each isoform in skin homeostasis, in addition to the development of innovative therapeutic interventions. This review highlights the critical functions of connexins in the epidermis and the association between connexins and skin disorders, and discusses potential therapeutic options.

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Section: Vohwinkel Syndromementioning

confidence: 99%

Section: Vohwinkel Syndromementioning

confidence: 99%

Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions

Yasarbas,

Inal,

Yildirim

et al. 2024

Front. Physiol.

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Genodermatoses and Therapeutics on the Horizon: A Review and Table Summary

Klepper

2024

JCMR

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Over the last decade with the advent of new genetic technologies such as CRISPR and more recently described, seekRNA, we now have the ability to transfer genetic materials through retroviruses or other tools to directly edit the aberrant genes and repair them. We describe and categorize the genodermatoses in tabular forms devoting each genodermatosis to its own table which describes the clinical characteristics, genetic inheritance pattern, pathophysiology with molecular and genetic pathways, current treatments and future anticipated treatments.

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Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes

Cited by 2 publications

References 36 publications

Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions

Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions

Genodermatoses and Therapeutics on the Horizon: A Review and Table Summary

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