38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
2 citations
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August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
22 citations
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November 2014 in “Proteins Structure Function and Bioinformatics” In this study, researchers mapped cysteine accessibility in wool keratins and KAPs, revealing that certain cysteines in keratin end domains and Types I and II rod domains are accessible and likely involved in forming disulfide bonds.
11 citations
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April 2022 in “Biophysical Journal” In this study, certain cysteine residues in Romney sheep wool fibers were labeled more often during stretching tests, particularly under wet conditions, suggesting variability in their disulfide bond contributions to fiber mechanics depending on hydration.
September 2017 in “Journal of Investigative Dermatology” This study suggests that activating the hexosamine pathway may enhance skin homeostasis, potentially increasing hair follicle stem cells and modifying extracellular matrix components like hyaluronic acid in vitro.
March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that mice lacking both vitamin D and calcium-sensing receptors in epidermal keratinocytes are predisposed to developing squamous cell carcinoma as they age, due to impaired oxidative stress response and reduced DNA repair capabilities.
9 citations
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March 2019 in “Molecular & cellular proteomics” In this study, around 1% of proteins in skin fibroblasts significantly changed in response to reductive stress, affecting collagens and MAPK signaling pathways.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
28 citations
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March 2017 in “Endocrinology” In this study, the researchers found that vitamin D and calcium signaling in keratinocytes are essential for normal skin regeneration after wounding, with deficiencies significantly delaying wound closure and re-epithelialization in mice.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
December 2025 in “Biomolecules” This study reviews the emerging role of protein S-palmitoylation in dermatology, highlighting its impact on skin functions like inflammation and barrier maintenance, and evaluating its potential as a therapeutic target for skin disorders such as alopecia and psoriasis.
May 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the dysfunction of hair follicle dermal stem cells with age contributes to hair follicle aging and hair loss in mice.
10 citations
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January 2016 in “Dermatology” This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
19 citations
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September 2019 in “PLOS genetics” This study found that telomere shortening disrupts BMP/pSmad/P63 signaling, leading to skin atrophy via Follistatin up-regulation, and suggests potential therapeutic targets.
November 2024 in “Journal of Investigative Dermatology” 315 citations
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June 2001 in “Nature Genetics” 10 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
10 citations
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May 2018 in “Cell death discovery” This study found that the interaction between heat shock protein 90 and lamin A/C is crucial for the growth, migration, and self-aggregation of dermal papilla cells, suggesting a potential role in alopecia areata mechanisms.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.
75 citations
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January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
1 citations
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September 2019 in “Journal of Investigative Dermatology” This study developed a pemphigus model in mice showing that anti-Desmocollin 3 and anti-Desmoglein 3 antibodies lead to more severe disease, suggesting diverse antigens contribute to varying human pemphigus phenotypes.
67 citations
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December 2009 in “International Journal of Dermatology” This study suggests that hormonal receptor activity in skin regions undergoing mechanical stretching may influence extracellular matrix metabolism and the formation of SD, with variations in receptor functionality throughout lesion development stages.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
99 citations
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October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.