2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
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.
In a proof-of-concept study at Xiangya Hospital, the researchers observed that combining tofacitinib with low-dose interleukin-2 helped maintain remission in refractory alopecia areata patients, with three out of four maintaining complete remission for 11–20 months post-treatment and no adverse events reported.
52 citations
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April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
11 citations
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November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.
15 citations
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August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
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.
2 citations
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June 2020 in “Clinical Journal of Gastroenterology” This case report describes two patients with ulcerative colitis and alopecia areata who did not respond to various treatments but achieved remission and improved hair growth after starting tofacitinib.
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.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
August 2018 in “Journal of Investigative Dermatology” This study of alopecia areata patients found that a 10 mg twice-daily dose of oral tofacitinib led to significant hair regrowth, suggesting it may be beneficial for treatment.
October 2006 in “Urology” The study found that different criteria led to different patient groups in the CombAT study compared to the MTOPS study.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
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.
222 citations
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September 2016 in “JCI insight” This research overview highlights that although JAK inhibitors show promise as potential treatments for alopecia areata based on recent insights into the disease mechanism, their efficacy has not yet been thoroughly evaluated in a systematic manner.
188 citations
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October 2014 in “Thyroid” This study found that dabrafenib was well tolerated and led to durable responses in patients with BRAF-mutant differentiated thyroid carcinoma, with a median progression-free survival of 11.3 months.
1 citations
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February 2025 in “Pediatric Dermatology” This study found that oral tofacitinib achieved significant hair regrowth in children with moderate to severe alopecia areata, with 72.2% reaching a 75% improvement and 52.8% achieving complete regrowth, though some patients did not respond and further research is needed on the treatment's long-term effects.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that tofacitinib may inhibit CD8+ T cell infiltration in alopecia areata by affecting the linoleic acid metabolism-Mg2+ pathway in a sodium sulfide-induced mouse model, highlighting new insights for clinical diagnosis and treatment strategies.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
This study highlights the successful design of recombinant fortilin constructs for potential drug development targeting atherosclerotic plaque formation in cardiovascular disease.
October 2006 in “Clinical Cancer Research” This study found that doxorubicin-induced oxidative stress downregulates FLIPs and phosphorylates EF2, sensitizing prostate cancer cells to TRAIL; antioxidants may reduce doxorubicin's effectiveness, warranting further investigation.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
17 citations
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January 1993 in “Journal of Gastroenterology and Hepatology” This study found that recombinant IFN α-2b injections in patients with acute post-transfusion hepatitis C can suppress viral RNA and lead to normalization of serum ALT, though long-term prevention of chronicity remains unclear.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that TET2 plays a tumor-suppressive role in preventing squamous cell carcinomas by regulating 5-hydroxymethylcytosine levels, suggesting therapeutic potential for DNA methylation dynamics.
1 citations
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January 2020 This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.
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.