8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
1 citations
,
September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a human skin organ culture model of pemphigus vulgaris, split formation led to significant upregulation of IFNγ and TNFα-related genes, indicating secondary effects from mechanical stress, not direct changes from autoantibodies.
87 citations
,
July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
5 citations
,
October 2014 in “Journal of cosmetic and laser therapy” In this study, the researchers found that combining physical dermabrasion with chemical peeling increased growth factors and neuropeptides more than chemical peeling alone in porcine skin samples.
28 citations
,
January 2015 in “Journal of Cell Science” In this study, PINCH-1 gene loss in mouse epidermis led to detachment from the basement membrane, thickened skin, and hair loss, with findings suggesting PINCH-1 plays a role in keratinocyte adhesion through both ILK and EPLIN pathways.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
12 citations
,
August 2007 in “Human Molecular Genetics” This study found that Lymphotoxin-beta primarily influences periderm differentiation, impacting epidermal and hair follicle differentiation at later stages.
7 citations
,
March 2020 in “PloS one” This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.
May 2024 in “Rossijskaâ oftalʹmologiâ onlajn” In this case report, a 17-year-old Korean female with Vogt–Koyanagi–Harada syndrome showed positive improvement in her symptoms following systemic glucocorticosteroid pulse therapy, highlighting the rarity and importance of early disease detection.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Dsc3 function in the epidermis impaired cell adhesion, leading to blistering and hair loss, which suggests a potential cause of PV-like skin diseases according to this study.
January 2025 in “Indian Dermatology Online Journal” This case study highlights the importance of a multidisciplinary approach in diagnosing and managing Vogt-Koyanagi-Harada syndrome, particularly emphasizing the role dermatologists can play in identifying early signs such as hair loss.
2 citations
,
July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” In this study, proteolytic enzymes applied to mice skin caused severe degeneration in hair follicles, including detachment of stem cells from their niche, suggesting potential impairment of stem cell function.
35 citations
,
May 2008 in “Journal of Clinical Oncology” A cancer patient died from a severe skin reaction after taking the drug cetuximab.
5 citations
,
July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The researchers reported that applying proteolytic enzymes to mice skin negatively affected hair follicles, leading to degeneration and potential impairment of stem cells from the bulge area.
November 2025 in “Journal of Investigative Dermatology” Combining MMP-9 and JAK inhibitors can effectively prevent skin depigmentation in vitiligo.
19 citations
,
November 2023 in “npj Regenerative Medicine” This study found that synthetic melanin particles applied topically in mouse injury models improved wound healing, showing potential as a therapy for accelerated healing, including in human skin explants.
20 citations
,
September 2004 in “Journal of Anatomy” This study suggests that the structure and function of the inner root sheath in mammalian hair may have evolved from simpler forms seen in monotremes, aiding in hair exit without damaging the epidermis.
9 citations
,
April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
120 citations
,
February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
April 2024 in “Cell death and differentiation” This study discusses how different modes of regulated cell death in keratinocytes affect skin stem cell niches, and their role in skin inflammation, injury repair, and cancer, based on findings from human dermatological conditions and experimental mouse models.
March 2015 in “Plastic and reconstructive surgery” This chapter reviews the skin's structure and its clinical relevance, highlighting connective tissue diseases and the potential for novel treatments like protein, cell, or stem cell transfer, but reports no new findings.
12 citations
,
June 2003 in “Journal of the European Academy of Dermatology and Venereology” This review discusses the range and management of adverse cutaneous reactions to psychotropic medications and emphasizes the need for awareness among clinicians, concluding with a call for careful monitoring and patient education.
9 citations
,
January 2022 in “Theranostics” This review discusses the role of collagen XVII in maintaining stem cell niches and its impact on skin aging and wound repair, without reporting new clinical results.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
1039 citations
,
February 2009 in “Nature Reviews Molecular Cell Biology” This review discusses the reuse of molecular mechanisms involved in embryonic skin development for maintaining adult epidermal homeostasis and reports no new results.
788 citations
,
February 2007 in “Nature” This review explores how adult skin epithelia preserve stem cell populations for hair follicle regeneration and wound healing, but reports no new experimental results.
253 citations
,
March 1994 in “Developmental dynamics” This study suggests that programmed cell death plays a crucial role in shaping the structure of the human epidermis and its appendages during development.
218 citations
,
April 2008 in “Genes & Development” This research discusses how epithelial stem cells in the skin maintain normal homeostasis, contribute to wound repair, and highlights the importance of these processes, as defects can lead to skin diseases including cancers, but provides no new experimental results.