March 2026 in “Journal of Personalized Medicine” In this study involving South African breast cancer patients, researchers identified certain genetic variations in cytochrome P450 and other enzymes potentially linked to differences in tamoxifen treatment outcomes, suggesting a need for more comprehensive pharmacogenomic studies to optimize therapy in African populations.
April 2023 in “Journal of Investigative Dermatology” This study found that patients with Stevens-Johnson syndrome and toxic epidermal necrolysis exhibit lower levels and activity of DNase1, impairing NET degradation, and suggests DNase1 administration as a potential treatment.
In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
36 citations
,
March 2011 in “Nature Communications” This study found that TSC2-null fibroblast cells from TSC skin hamartomas can induce hair follicle formation and hamartomatous changes in keratinocytes, with active mTOR signaling observable in a mouse xenograft model.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
In this study, researchers analyzed over 5,000 T cells per sample using scRNA+TCR-seq technology and found that dual TCR Tregs are present in high proportions across various mouse tissues, showing unique TCR pairing patterns, V(D)J usage, and mRNA expression compared to single TCR Tregs.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
150 citations
,
August 1992 in “Genes & Development” This study reported that transgenic mice with targeted TNF alpha expression in keratinocytes showed impaired weight gain, retarded hair growth, and skin changes, leading to cachexia and necrosis.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
18 citations
,
February 2019 in “Scientific Reports” This study found that TSA restored the hair-inductive capacity of skin-derived precursors in mice by enhancing BMP gene expression and signaling through histone acetylation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that GATA6 is a key regulator of the upper pilo-sebaceous unit homeostasis and differentiation in human skin.
December 2025 in “Mycoses” In this study involving a murine skin infection model, researchers found that the Trichophyton mentagrophytes strain TIMM 2789, specific to rodents, induced typical symptoms of superficial dermatophytosis, while revealing that the fungal gene SUB6 is not essential for virulence.
September 2023 in “Research Square (Research Square)” This study found that TNC + fibroblasts are crucial in neuro-immune interactions in various skin diseases, particularly inflammation and tumors, by engaging extensively with immune cells and overexpressing inflammatory genes, suggesting their significant role in skin abnormalities.
52 citations
,
June 1991 in “Journal of Virology” In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.
288 citations
,
January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
This article lists the clinically important interactions and skin reactions of several drugs and substances, including THA, FK506, tamoxifen, tamsulosin, tartrazine, tea tree oil, temazepam, and temozolomide, but provides no new clinical results.
10 citations
,
July 2015 in “Clinical and Experimental Dermatology” The authors reported a possible association between the use of etanercept and the development of trichorrhexis nodosa, a hair shaft disorder, in a patient without apparent external causes.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that locally administering thymic stromal lymphopoietin (TSLP) promotes hair growth by stimulating hair follicle cell proliferation during both normal conditions and after skin injury in mice.
1 citations
,
July 2025 in “Journal of Investigative Dermatology” Increasing m6A levels can improve skin cell growth and wound healing.
6 citations
,
July 1994 in “Journal of Dermatological Science” This study found that introducing the recombinant rat OTC gene into SPF-ASH mice restored normal hair growth and metabolic function, improving symptoms associated with OTC deficiency.
37 citations
,
September 2003 in “Journal of Medicinal Chemistry” This study found that compound 2g inhibits steroid sulfatase effectively without exhibiting estrogenic activity, making it a promising candidate for breast cancer treatment.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
8 citations
,
March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
16 citations
,
December 2019 in “Animals” In this study, cashmere goats engineered to overexpress the Tβ4 gene in hair follicles produced more cashmere, indicating that Tβ4 promotes secondary hair follicle development and enhances yield.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
52 citations
,
January 2003 in “Journal of Investigative Dermatology” This study found that thrombospondin-1 plays a critical role in hair follicle cycle regulation, with deficiency prolonging follicle growth and overexpression delaying it through antiangiogenic effects.
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.