6 citations
,
February 1997 in “International Journal of Dermatology” In this study, the lack of cathepsin expression in Kaposi's sarcoma lesions suggests a benign hyperplastic origin for these lesions.
4 citations
,
March 2014 in “The FASEB Journal” This study observed that deleting ARNT in keratinocytes of mice reduced zigzag hair production and altered hair follicle differentiation, likely by affecting the expression of specific cyclin-dependent kinase inhibitors.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
This study found that ARHGEF3 is crucial for hair follicle development in mice, as its absence leads to defects in placode compaction and impaired follicle downgrowth, highlighting its role in regulating cell shape rearrangements during embryogenesis.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
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.
July 2022 in “Journal of Investigative Dermatology” This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.
2 citations
,
March 2023 in “BMC ecology and evolution” This study suggests that some keratin-associated proteins with antecedents found in non-haired animals may have roles beyond hair characteristics, possibly contributing to the evolution of hair follicles.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
10 citations
,
July 2015 in “Journal of Cosmetic Dermatology” This study found elevated tissue levels of DKK-1 in patients with both androgenetic alopecia and alopecia areata compared to controls, suggesting DKK-1 as a potential therapeutic target for these conditions.
January 2026 in “PLoS Biology” This study used developing mouse hair follicles to explore early epithelial bud formation, finding that the Rho GTPase regulator ARHGEF3 plays a crucial role in regulating cell fate and cadherin patterning, with knockouts showing disrupted morphology and increased straight hair follicle growth.
19 citations
,
March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
33 citations
,
December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
9 citations
,
January 2019 in “American Journal of Dermatopathology” This study found that both androgenetic alopecia and alopecia areata showed significantly increased DKK-1 expression, potentially implicating it in the pathogenesis and as a treatment target for these conditions.
13 citations
,
November 2010 in “Experimental Dermatology” This study found that L-ascorbic acid 2-phosphate could reduce DHT-induced DKK-1 expression in balding scalp cells, suggesting potential for treating androgen-driven hair loss.
93 citations
,
July 2006 in “Journal of Investigative Dermatology” This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
41 citations
,
December 1988 in “Journal of Investigative Dermatology” 2 citations
,
February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
22 citations
,
April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
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.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
October 2021 in “Journal of Investigative Dermatology” This study reported that Dkk4-knockout mice showed disrupted hair follicle patterning, suggesting a WNT-DKK axis may influence regional specificities in hair follicle induction related to androgenetic alopecia.