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.
14 citations
,
December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
3 citations
,
May 2013 in “PubMed” This review discusses Hutchinson-Gilford progeria syndrome, highlighting its phenotype, pathogenesis, and its potential insights into natural aging and cardiovascular diseases, but it reports no new research findings.
19 citations
,
September 2019 in “EMBO molecular medicine” This study found that deletion of c-Jun and JunB in mouse bulge hair follicle stem cells was sufficient to trigger psoriasis-like skin disease through thymic stromal lymphopoietin signaling.
2 citations
,
January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
June 2019 in “International journal of dermatology and venereology” This review discusses the hedgehog signaling pathway's role in cutaneous tumors and hematological disorders, highlighting its potential as a therapeutic target, but reports no new clinical findings.
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.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
7 citations
,
February 2015 in “Journal of comparative pathology” This study observed that NSG-hu-BLT mice developed graft-versus-host disease characterized by CD8+ T lymphocyte-related cell death in the skin and liver, which may affect their utility in other research areas.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.
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.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
35 citations
,
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.
11 citations
,
March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.
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.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
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.
51 citations
,
February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
December 2009 in “Cancer Research” This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.
50 citations
,
September 2023 in “Biomarker Research” This review focuses on S100A6, a Ca²⁺-binding protein, detailing its role in cell functions, the regulation of its expression, and its potential as a biomarker and therapeutic target in various diseases.
April 1996 in “Journal of Dermatological Science”