3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
2 citations
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February 2014 in “Journal of Crohn's and colitis” This study observed that 6.45% of IBD patients treated with anti-TNF therapy developed severe psoriasiform reactions, with notable cases of alopecia universalis suggesting a potential link to previous alopecia areata.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
47 citations
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November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
In this phase 2 trial, STS01 1% significantly improved hair regrowth in patients with mild to moderate patchy alopecia areata compared to placebo, with a manageable skin irritation side effect profile.
November 2023 in “SKIN The Journal of Cutaneous Medicine” This study assessed ritlecitinib's effects on sustained hair regrowth in patients with alopecia areata who showed improvement at 24 weeks, confirming ongoing benefits through 48 weeks for scalp, eyebrow, and eyelash hair regrowth in this post hoc analysis.
60 citations
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September 2023 in “Science” This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.
3 citations
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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.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
13 citations
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November 2005 in “Endocrinology” This study explored the secretion and cellular localization of different forms of follistatin and FST-like-3, revealing variable secretion kinetics and possible intracellular roles, particularly for nuclear FSTL3.
66 citations
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October 1984 in “Annual Review of Microbiology” This article reviews historical and recent developments related to toxic shock syndrome (TSS), emphasizing the increase in cases among young women using tampons, and calls for new research tools but does not report new results.
June 2024 in “British Journal of Dermatology” This review by the British Hair and Nail Society reported that their national grand round for complex hair disorders has led to diagnosis changes in 38% of cases and has suggested novel treatments, emphasizing its role in aiding complex diagnostic and therapeutic decisions.
September 2024 in “Annals of Medicine and Surgery” In this review, the authors highlight the FDA approval of Ritlecitinib, the first oral treatment specifically for moderate to severe alopecia areata in patients aged 12 and older, marking a significant advancement in managing this condition.
6 citations
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October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
15 citations
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May 1987 in “Fundamental and applied toxicology” This study found that SMR-2 and SMR-6, analogs of retinoic acid and retinol, were approximately 100 times more toxic than retinoic acid in mice, inducing hypervitaminosis A and affecting various organs and tissues.
June 2026 in “Journal of health economics and outcomes research” In this study, researchers found that ritlecitinib 50 mg offered a lower cost per responder than baricitinib 2 or 4 mg at both 24 and 52 weeks for treating severe alopecia areata, suggesting potential implications for reimbursement or formulary decisions.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
10 citations
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June 2022 in “Biomedicine & Pharmacotherapy” This review examines the molecular mechanisms by which the proapoptotic protein ARTS inhibits tumorigenesis and discusses prospects for developing drugs that mimic its function, with no new experimental results reported.
1 citations
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June 2022 in “JCRPE” This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.
July 2016 in “Journal of Investigative Dermatology” R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
4 citations
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December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
This research explores the pathogenesis of benign prostatic hyperplasia and evaluates the combined effect of finasteride and anastrozole in treating BPH in a rat model, but reports no new results yet.
January 2014 in “Revue des Maladies Respiratoires” This study confirmed significant and dramatic ophthalmic and mucocutaneous sequelae from Stevens-Johnson and Lyell syndromes in Morocco, affecting the social and professional integration of mostly young patients.
December 2025 in “Molecular Pain” This study identified that the MC-5-HT-HTR2A axis plays a role in chronic pruritus in a mouse model of SADBE-induced allergic contact dermatitis, suggesting potential for therapeutic targeting.
February 2023 in “Research Square (Research Square)” This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.
56 citations
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July 2014 in “PloS one” This study found that selective androgen receptor modulators (SARMs) significantly inhibited tumor growth and metastasis-promoting factors in AR-positive triple-negative breast cancer models.
This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.
16 citations
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March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.