10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
January 2000 in “Cambio 16” This study observed that overexpression of Bcl-2 in certain transgenic mice accelerates catagen progression and increases hair follicle apoptosis and alopecia, while Bcl-2 deficient mice show delayed hair growth and pigmentation changes.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
April 2023 in “Journal of the American Academy of Dermatology” This study aimed to evaluate the outcomes of switching between two JAK inhibitors, tofacitinib and baricitinib, in treating alopecia areata, due to the lack of data on their comparative efficacy.
2 citations
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November 2004 in “Blood” In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
August 2026 in “Revista Medicina Cutánea Ibero-Latino-Americana” This review concludes that methotrexate remains an effective and safe first-line treatment for various inflammatory and immune-mediated skin conditions in children, despite the rise of biologic therapies.
18 citations
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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.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
13 citations
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November 2021 in “Pediatric Dermatology” This study found that oral tofacitinib was effective and well tolerated for treating alopecia areata in most pediatric patients, with nearly 73% experiencing hair regrowth.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
5 citations
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May 2024 in “BMC Genomics” This study analyzed the transcriptome of the Tianzhu white yak, identifying differential transcripts that shed light on the molecular mechanisms influencing hair length growth variation in this species.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
April 2021 in “Journal of Investigative Dermatology” This study developed a transgenic mouse model to explore androgenetic alopecia, finding that inducible COX2 expression led to sebaceous gland changes and hair miniaturization, with reversible effects upon reducing COX2.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
October 2021 in “Journal of Investigative Dermatology” This study found that interleukin-12 signals play a role in hair follicle immune privilege collapse in ex vivo alopecia areata models, and a TYK2 inhibitor may help prevent or reverse this process.
June 2026 in “Current Oncology Reports” This review highlights the potential of Sacituzumab Tirumotecan, an antibody-drug conjugate, in treating gynecologic cancers, with ongoing Phase III trials indicating a manageable safety profile and future results expected to shed light on its effectiveness in improving survival and response rates.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” This study found that double transgenic Arabidopsis plants overexpressing both AVP1 and AtNHX1 showed improved salt tolerance and enhanced root hair and hypocotyl growth compared to single transgenic lines.
9 citations
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June 2023 in “Human Genomics” This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, distinct molecular mechanisms of action were identified for three drugs used in alopecia areata clinical trials, providing insights for precision medicine and treatment selection.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the ethyl acetate extract of Semecarpus anacardium leaves demonstrated cytotoxicity against MCF-7 cancer cells and induced apoptosis, suggesting potential as a cancer treatment with fewer side effects.
October 2019 in “European heart journal” This study found that androgen deprivation therapy is associated with an increased risk of acquired long-QT syndrome and Torsades de Pointes, particularly highlighting enzalutamide's greater association with sudden death compared to other therapies.
10 citations
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January 2008 in “Biological and Pharmaceutical Bulletin” This study found that trans-3,4'-Dimethyl-3-hydroxyflavanone reduces active TGF-beta2 levels in human keratinocytes, suggesting it may enhance hair growth by suppressing the TGF-beta2 activation pathway.
2 citations
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December 2024 in “eLife” This study observed that individuals with Down syndrome exhibit early immune dysregulation, including multi-organ autoimmunity and hypercytokinemia, and found that the JAK inhibitor tofacitinib showed a good safety profile and reduced skin pathology in a Phase II trial.
January 2022 in “Revista Dermatológica Centro Uraga” This article reviews two cases of monilethrix in siblings, detailing their clinical and dermatoscopic characteristics, but reports no new findings.