July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers investigated the role of the ATX-LPA axis in asthma pathogenesis using human and mouse models and highlighted the potential for developing new ATX inhibitors as effective asthma treatments.
January 2007 in “Frontiers in Medicine” This study found that tofacitinib was an effective and better-tolerated treatment for moderate-to-severe AA compared to SCs, though its efficacy decreased in patients with disease episodes longer than two years.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
February 2025 in “International Journal of Cosmetic Science” This study found that treating hair with ATS, formed from fumaric acid and cysteamine, effectively improved hair quality by increasing moisture content and altering the internal structure of strong curls.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
305 citations
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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.
2 citations
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April 2017 in “Journal of Investigative Dermatology” In this study, tofacitinib treatment led to significant hair regrowth in 60% of patients with moderate-to-severe alopecia areata, suggesting potential for JAK inhibitors in treating this condition.
July 2026 in “Pediatric Allergy and Immunology” April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
January 2026 in “SSRN Electronic Journal” April 2026 in “Future Medicinal Chemistry” This article discusses the impact of PROTACs technology in transforming drug discovery with its novel degradation mechanism, but it reports no new experimental findings.
2 citations
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December 2023 in “Biointerface Research in Applied Chemistry” In this study, the authors explore and compare advanced high-performance methods for transcriptome analysis, emphasizing the significant role of next-generation sequencing in understanding gene expression and revealing new RNA species.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
January 2026 in “Frontiers in Public Health” This study observed distinct post-marketing safety signal patterns for baricitinib and tofacitinib in adult AA, influenced by their differing regulatory uses and real-world contexts, and emphasizes the need for future studies to validate these findings.
130 citations
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February 2018 in “Journal of Investigative Dermatology” This study found that tofacitinib led to ≥50% hair regrowth in eight out of twelve patients with moderate to severe alopecia areata, suggesting a potential benefit for using JAK inhibitors in treating this condition.
28 citations
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December 2017 in “Journal of Investigative Dermatology Symposium Proceedings” This review summarizes findings on the long-term use of tofacitinib for severe alopecia areata, reporting its potential as a promising treatment option.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
August 2018 in “Journal of the American Academy of Dermatology” Tofacitinib is a potential alternative treatment for alopecia totalis, especially in patients with a shorter duration of the condition and more preserved hair follicles, but the overall response rate is low.
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.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated genetic markers for alopecia areata in the Turkish population, finding that the CT60 polymorphism might be linked to increased susceptibility, while no such association was found for the +49AG polymorphism; further studies are needed to confirm these findings.
March 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that prolonged tofacitinib treatment in adult Indian patients with moderate-to-severe alopecia areata was associated with a high regrowth rate, which varied with factors like age at disease onset and treatment duration.
8 citations
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May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
June 2017 in “Journal of the American Academy of Dermatology” In this retrospective study, tofacitinib was found to be effective and well-tolerated for treating severe alopecia areata, with 77% of patients achieving a clinical response over 4-20 months, though results were more favorable for patients with less extensive hair loss.
November 2024 in “Journal of Investigative Dermatology” The research aims to better understand hair follicle regulation and find new treatments for hair loss.
15 citations
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December 2019 in “European Journal of Dermatology” This study identified new and recurrent missense mutations in the PHGDH and PSAT1 genes, implicating them in the pathogenesis of Neu-Laxova syndrome in Chinese patients.