December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
51 citations
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January 1997 in “PubMed” This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
10 citations
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October 2000 in “PubMed” This study found that transgenic mice expressing HPV E6/E7 in the outer root sheath experience continuous hair follicle cycling due to delayed catagen entrance and insensitivity to telogen resting signals.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.
14 citations
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January 2011 in “The International Journal of Developmental Biology” This study showed that coexpression of TG2 and Gbx1 in the epidermis is necessary for esophagus-like mucosal transdifferentiation, with TGF-beta2 in the dermis essential for the process through epithelial-mesenchymal interaction.
1 citations
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January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
8 citations
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December 2003 in “Materials Research-ibero-american Journal of Materials” Polyquaternium 7® builds up on hair, improving its look and feel, and AFM is good for measuring these changes.
December 2014 in “Nicolaus Copernicus University Repository (Nicolaus Copernicus University)” In this study, UV-light at 254 nm and Polyquaternium-7 treatment were found to affect the mechanical properties and surface structure of hair.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study observed that treating hair follicles with BM15766 and 7DHC led to structural damage, disrupted cellular organization, reduced expression of key genes and proteins, and increased apoptosis, in contrast to controls, indicating detrimental effects on hair follicle integrity.
November 2022 in “Journal of Investigative Dermatology” This study demonstrated that hiPSC-derived hair-bearing skin organoids lacked sufficient type VII collagen at the epidermal-dermal junction, indicating a need for further maturation to model certain forms of epidermolysis bullosa effectively.
July 2022 in “Journal of Investigative Dermatology” January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.