April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
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.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
This study found that S1PR1 signaling in mouse aortic endothelial cells varied by location and subtype, influencing inflammatory and lymphangiogenic gene expression through distinct molecular pathways.
17 citations
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May 2021 in “Journal of Cell Science” In this study, the researchers discovered that specific polyamine depletion enhances stemness in hair follicle stem cells through a mechanism independent of mRNA translation.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
June 2024 in “British Journal of Dermatology” This study found that alopecia areata significantly impacts patients' quality of life irrespective of hair loss severity, and concluded that the newer assessment tools AAPPO and AASIS better capture this impact compared to the traditional SALT measure.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
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.
2 citations
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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.
15 citations
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February 2000 in “Journal of Cutaneous Pathology” This study suggests that the anchorage of the arrector pili muscle to the extracellular matrix is likely mediated by α5β1 integrin, with α1β1 integrin involved in muscle cell-cell adhesion.
107 citations
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April 2014 in “The Plant cell” In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
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.
4 citations
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March 2024 in “The Journal of Cell Biology” This study found that Caspase-1, traditionally viewed as an inflammasome component, is secreted upon wounding and plays a novel role by triggering hair follicle stem cell migration into the epidermis, offering insights into epithelial hyperplasia mechanisms in inflammatory skin conditions.
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
January 2017 in “Seoul National University Open Repository (Seoul National University)” This study found that the N-terminal fragment of AIMP1 enhances hair growth and proliferation of hair follicle stem cells in mice, suggesting its potential as a therapeutic peptide for hair loss treatment.
15 citations
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July 2015 in “Developmental Dynamics” This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.
April 2017 in “Journal of Investigative Dermatology” This study found that retinoic acid and a retinol complex formulation showed different permeation and compound localization in a skin equivalent model, with unique lipid changes observed with only the retinol formulation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
27 citations
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March 2012 in “Dermatologic Surgery” This study found that finasteride treatment reduced caspase-1 expression, suggesting that androgens may influence immune processes in the hair cycle of androgenetic alopecia.
August 2017 in “Seoul National University Open Repository (Seoul National University)” The study investigated the role of Aminoacyl-tRNA synthetase interacting multifunctional protein 1 (AIMP1) in hair follicle stem cell proliferation and its potential as a treatment for alopecia. AIMP1, when dissociated from the multi-tRNA synthetase complex, was found to be secreted by dermal papilla cells in a sonic hedgehog (Shh) signal-dependent manner. This secretion increased the proliferation of CD34+ hair follicle stem cells by promoting the wnt signaling pathway through inhibition of sFRP1, a known wnt antagonist. The research demonstrated that the N-terminal fragment of AIMP1 could be developed into a therapeutic peptide for hair loss. When applied topically to depilated mice, this peptide significantly accelerated hair growth, especially when formulated with carbomer. The findings highlighted a novel mechanism of AIMP1 action and its potential application in alopecia treatment.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.