August 2018 in “Illinois Digital Environment for Access to Learning and Scholarship (University of Illinois at Urbana-Champaign)” This research observed that chronological age, rather than hearing loss, primarily affects the auditory cortex in aging, and found that brain aging in PolG mice mirrored that of wild-type counterparts, suggesting differential tissue sensitivity to mitochondrial dysfunction.
1 citations
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April 2021 in “Current Stem Cell Reports” This review discusses the role of metabolism in maintaining adult stem cell homeostasis with aging and highlights the potential benefits of dietary restrictions on stem cell function and longevity. It reports no new clinical results and emphasizes the need for further molecular studies.
32 citations
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January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
10 citations
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September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
384 citations
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June 2005 in “Genes & development” This study found that stabilized beta-catenin is crucial for activating stem cell transition from quiescence to proliferation in hair follicles by influencing gene expression within the stem cell niche.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
105 citations
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October 2017 in “Stem cells” This review discusses Wnt signaling pathways in skin development and stem cell regulation, highlighting potential interactions with other pathways but reports no new findings.
64 citations
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November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
6 citations
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January 2025 in “Differentiation” This review highlights the role of the glycoprotein WNT10A in human tissue and organ development, exploring its genetic structure, expression, and association with disorders like ectodermal dysplasia and pathological conditions such as fibrosis and cancer.
4 citations
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September 2004 in “Experimental Dermatology” This article reviews the role of epidermal proteins and their complex gene families in maintaining skin integrity and highlights insights gained from genetic studies and mouse models, without providing new clinical results.
93 citations
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October 2006 in “The International Journal of Biochemistry & Cell Biology” This review discusses melanocyte biology and its genetic and molecular basis, highlighting its relevance in understanding diseases like vitiligo and albinism, and reports no new findings.
4 citations
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January 2013 in “International Journal of Trichology” This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.
March 2013 in “Pigment Cell & Melanoma Research” This study revealed that different coat patterns in cats and cheetahs are related to variations in the aminopeptidase Q gene and endothelin-3 expression, which affects pigment production.
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.
5 citations
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October 2013 in “Experimental Dermatology” This study observed that putrescine and HR form a negative feedback mechanism affecting hair cycling, indicating a significant connection between HR, polyamines, and hair growth regulation.
19 citations
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March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
16 citations
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October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
January 2022 in “Function” This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
74 citations
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June 2018 in “Cell death and disease” In this study, researchers found that depleting mtDNA in mice caused skin wrinkles and hair loss but restoring mitochondrial function reversed these effects, highlighting mtDNA's significant role in skin and hair health.
5 citations
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January 2022 in “PloS one” This study found that lineage-restricted loss of p63 in murine thymic epithelial cells resulted in severe thymic hypoplasia and absence of hair follicles, indicating p63's critical role in thymic and hair follicle development.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations
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January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
36 citations
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October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.