December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
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.
5 citations
,
January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
54 citations
,
February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
May 2011 in “Value in Health” This study found that the oral Janus kinase inhibitor CP-690,550 has a direct effect on reducing pruritus in patients with psoriasis, independent of clinician-assessed improvements in psoriasis severity.
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.
128 citations
,
December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” This study found that the novel IPC analog SIG-1451 may inhibit inflammatory cytokine release in cell-based assays relevant to allergic dermatitis.
12 citations
,
June 2025 in “Gut Microbes” This study developed BroadAMP-GPT, a computational-experimental framework, to discover new antimicrobial peptides, identifying candidates effective against multidrug-resistant pathogens. Notably, AMP_S13 showed strong stability, low toxicity, and efficacy in infection models, highlighting the platform's potential in combating antimicrobial resistance.
2 citations
,
July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
January 2008 in “Central South Pharmacy” This study developed an accurate and reliable HPLC-ESI-MS method for determining candesartan levels in human plasma, useful for pharmacokinetic studies.
2 citations
,
August 2019 in “Electronics and Communications in Japan” This study reports a highly sensitive MEMS silicon-hair device that mimics hair follicle functions by detecting minimal forces and moments, including electrostatic attraction and surface tension of liquids.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
3 citations
,
July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
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.
12 citations
,
December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
319 citations
,
March 2023 in “Science Advances” This study demonstrated that a wearable bioelectronic patch with combined therapy significantly accelerated chronic wound healing in a rodent model by monitoring and treating wounds noninvasively.
5 citations
,
May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
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.
21 citations
,
October 2017 in “Cell death and disease” This study found that the absence of the stress-responsive protein Sesn2 increased hair cell susceptibility to gentamicin in the inner ear, indicating Sesn2's potential protective role against aminoglycoside-induced damage.
1 citations
,
June 2019 in “IEEJ Transactions on Sensors and Micromachines” This study reports the development of a MEMS silicon-hair device capable of detecting minute forces and moments, replicating the sensory functions of human hair follicles with high sensitivity.
3 citations
,
January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
7 citations
,
August 2019 in “JAAD Case Reports” This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
12 citations
,
April 2023 in “Molecular Pharmaceutics” This study demonstrated that a microarray patch can deliver antibodies in a controlled and prolonged manner, maintaining their functionality after manufacturing and heat exposure, with successful pharmacokinetic proof-of-concept in rats.
November 2025 in “Biocell” This article explores how the integrated stress response and senescence-associated secretory phenotype influence stem cell fate decisions, highlighting their dual roles in both protecting and disrupting stem cell integrity.