June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
3 citations
,
May 2019 in “BMJ case reports” This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.
33 citations
,
August 2000 in “Experimental Cell Research” 32 citations
,
January 2024 in “The Journal of Experimental Medicine” This study found that CXCL12+ fibroblast subsets in mouse skin play a critical role in recruiting neutrophils and defending against S. aureus infection, with similar fibroblast activity observed in human psoriatic skin.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
31 citations
,
September 1999 in “Molecular Carcinogenesis” This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.
17 citations
,
October 2024 in “Journal of the American Academy of Dermatology” In this study, brepocitinib was found to significantly reduce inflammatory biomarker CCL5 expression and improve clinical severity by week 24, while maintaining a favorable safety profile.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
March 2026 in “Skin Appendage Disorders” This study identified CD28, GZMB, and CD1C as key immune regulators in alopecia areata, highlighting CD28 as a potential therapeutic target with a promising safety profile, using a proteome-anchored multi-omics approach to uncover actionable targets for this autoimmune hair-loss disorder.
7 citations
,
December 2016 in “Journal of the American Academy of Dermatology” In this study, researchers found that patients with alopecia areata had a significant increase in NKG2D+CD4+ T cell levels in their blood compared to healthy controls.
7 citations
,
March 2024 in “Skin Research and Technology” This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.
1 citations
,
May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
3 citations
,
June 2013 in “Turkish Journal of Rheumatology” This case report describes a 16-year-old boy diagnosed with Castleman's disease, where treatment led to a marked decrease in lymph node swelling without obvious recurrence.
3 citations
,
October 1994 in “Journal of Dermatological Science” This study developed a novel monoclonal antibody, TYHF-1, which specifically reacts with hair keratins but not with epidermal keratins or various other tissue cells.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” This study found that PRMT5 inhibitors showed potent anti-tumor activity in models of adenoid cystic carcinoma and that combining these inhibitors with lenvatinib may have additional growth-inhibitory effects.
24 citations
,
April 2017 in “Oncology Reports” In this study, full-size KRT81 was expressed in both normal breast epithelial and breast cancer cells, and contributed to the migration and invasion abilities of breast cancer cells.
July 2024 in “Journal of Investigative Dermatology” OR101 may effectively treat atopic dermatitis and similar skin conditions.
7 citations
,
May 1993 in “Journal of the European Academy of Dermatology and Venereology” This review examines the role of cell adhesion molecules in the pathogenesis of various inflammatory and neoplastic skin diseases, suggesting their potential utility in diagnosis and treatment without presenting new clinical results.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that targeting skin-infiltrated memory phenotype T cells could offer a new therapeutic approach to manage lymphopenia-related diseases like graft-versus-host disease and immune reconstitution inflammatory syndrome.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
2 citations
,
April 2023 in “American Journal of Dermatopathology” This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.
October 2023 in “Regular and Young Investigator Award Abstracts” This study found that Baricitinib significantly reduced hair loss and immune response in a mouse model of alopecia areata.
May 2025 in “Cellular Oncology” This study suggests that dual inhibition of P-cadherin and c-Met could be an effective treatment strategy for head and neck squamous cell carcinoma by targeting resistant tumor cells.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
March 2026 in “Journal of Investigative Dermatology”
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
March 2026 in “Wound Repair and Regeneration” In this study, researchers used a mouse model to demonstrate that expression of MARCKSL1 in dendritic cells plays a crucial role in modulating fibrotic responses and scar formation during wound healing, suggesting that targeting this expression could offer new therapeutic strategies for scar prevention.
2 citations
,
August 2016 in “Journal of Investigative Dermatology” 1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.