96 citations
,
September 1996 in “PubMed” This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
94 citations
,
October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
55 citations
,
October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
40 citations
,
September 2010 in “Journal of Biological Chemistry” This study found that keratin K80, structurally similar to hair keratins, is broadly expressed in various epithelial tissues and is involved in intermediate filament formation with multiple type I partners.
36 citations
,
January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” This case study reports on a mother and daughter with ichthyosis follicularis, alopecia, and photophobia, noting consistent keratotic eruptions during the mother's pregnancies that improved postpartum.
28 citations
,
November 1987 in “Journal of the American Academy of Dermatology” This study developed an in vitro model using human follicular keratinocytes to observe selective cell growth and differentiation, potentially aiding future research on hair biology and growth processes.
26 citations
,
April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
11 citations
,
January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
7 citations
,
February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
4 citations
,
July 2020 in “Journal of proteomics” This study found no significant proteomic differences in hair samples across racial or geometric groups in a culturally diverse South African cohort, highlighting the limited value of racial classification in precision medicine.
1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
1 citations
,
November 2002 in “Journal of dermatology” This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
September 2012 in “대한피부과학회지” In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
February 2021 in “Journal of Investigative Dermatology” This study found that specific junctional proteins are significantly downregulated in balding regions of the scalp in men with androgenetic alopecia, suggesting disrupted cell communication may play a role in hair loss.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.
June 2023 in “Dermatology reports” In this report, the authors describe the case of an 83-year-old woman initially diagnosed with atrophic actinic keratosis, but further examination and skin biopsies at their clinic suggested the presence of an inflammatory disease, highlighting the challenges in diagnosing pemphigus.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.
April 2018 in “Journal of Investigative Dermatology” This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.
195 citations
,
November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
29 citations
,
February 1989 in “Journal of Cutaneous Pathology” This case report identifies a new type of hair matrix tumor called "rippled pattern trichomatricoma," distinguished by its unique cell arrangement and differentiation features.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
4 citations
,
March 2010 in “International Journal of Oral Science” This study concluded that the Chinese herbal medicine Xianhuayin effectively reversed DMBA-induced premalignant lesions in the buccal pouch of golden hamsters.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.