September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
6 citations
,
December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
137 citations
,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study constructed a consensus single-cell atlas for hidradenitis suppurativa tunnels, identifying distinct fibro-inflammatory microenvironments with potential drug targets, suggesting TNF blockade alone may not be effective for all lesion types.
In this study, researchers observed that oncogenic HrasG12V in single murine epidermal cells leads to an initial increase in progenitor cell renewal, but ultimately results in balanced cell fate choices that limit clone growth.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study constructed a consensus single-cell atlas of hidradenitis suppurativa tunnels, identifying distinct microenvironmental endotypes with different inflammatory and fibrotic profiles, suggesting that TNF blockade may not be sufficient for addressing all lesions.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study's new single-cell atlas of hidradenitis suppurativa tunnels identifies distinct fibro-inflammatory microenvironments, suggesting that TNF blockade may not address the primary pathway in many lesions.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
1 citations
,
June 2023 in “The FASEB journal” This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
9 citations
,
June 2016 in “Stem cells” In this study, overexpression of secretory phospholipase A2 Group-IIA in transgenic mice led to depletion of hair follicle stem cells and increased differentiation, linked to changes in histone modifications.
155 citations
,
December 2002 in “Journal of Investigative Dermatology” This study found that thyroid-stimulating hormone receptors are functionally expressed in various skin cells, implying potential physiological and pathological roles in skin, especially in conditions like autoimmune diseases.
15 citations
,
May 2017 in “Journal of Cellular Biochemistry” This review discusses the role of the hairless protein (HR) in alopecia and cancer, noting its potential importance in cancer cell growth and survival, and reports no new experimental results.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hemoglobin α is upregulated in epidermal keratinocytes after UV exposure and may function as an antioxidant, particularly for hair follicle stem cells.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
5 citations
,
June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
8 citations
,
March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
24 citations
,
November 1997 in “Journal of Biological Chemistry” This study found that genes encoding mouse high-glycine/tyrosine proteins show distinct spatial and temporal expression patterns in hair follicles, suggesting diverse protein distribution during hair growth cycles.
July 2026 in “The Journal of Immunology” This study observed that in both mouse and human models of alopecia areata, T cells exhibit a stress response involving heat shock proteins and other regulatory markers, suggesting their potential as targets for therapeutic intervention in this autoimmune skin disease.
9 citations
,
November 2007 in “Blood” This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
April 2018 in “Journal of Investigative Dermatology” This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.
April 2018 in “Journal of Investigative Dermatology” The researchers reported that in nonmelanoma skin cancers, the expression of osteopontin splice variants is significantly higher compared to normal skin, with OPN-a elevated in basal cell carcinoma more than OPN-c.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.