3 citations
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April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
10 citations
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November 2020 in “American Journal Of Pathology” The study suggests that integrin β1 is crucial for maintaining liver microstructure and its absence may promote fibrosis by disrupting hepatocyte-extracellular matrix interactions and increasing TGF-β secretion.
September 2025 in “Institutional Repositories DataBase (IRDB)” 3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
7 citations
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January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
11 citations
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June 2019 in “Tissue & Cell” This study indicates that COL17A1 plays a crucial role in the differentiation process of hair-follicle-associated pluripotent stem cells.
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.
April 2025 in “Journal of Diabetes & Metabolic Disorders” This study found that linc-PINT expression was significantly decreased in patients with atrial fibrillation compared to healthy controls, while several TGF-β signaling genes were increased, suggesting a potential role in heart arrhythmias' pathogenesis.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
7 citations
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April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
30 citations
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June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
3 citations
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May 2020 in “Journal of Cellular and Molecular Medicine” This study identified critical roles for the gene GREM1 in the differentiation and expansion of endothelial progenitors derived from human urinary induced pluripotent stem cells.
2 citations
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September 2022 in “World Rabbit Science” This study found that the WIF1 gene may play a crucial role in hair follicle growth and development in Angora rabbits by regulating specific genes and proteins.
15 citations
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May 2003 in “The Laryngoscope” In this study, researchers observed that spiral ganglion neurites created more branched networks near FGF-1-coupled beads compared to control beads, highlighting FGF-1's role in hair cell innervation development.
6 citations
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June 2023 in “Journal of the European Academy of Dermatology and Venereology” This study observed that inflammatory AIGA is associated with sweat duct inflammation and sweat coil atrophy, while non-inflammatory AIGA involves only sweat coil atrophy, suggesting distinct pathological features between the two.
18 citations
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September 2003 in “International Journal of Cancer” This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
5 citations
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December 2024 in “Bioengineering” In this study, conditioned medium from genetically engineered mesenchymal stem cells significantly improved wound healing, re-epithelialization, hair follicle formation, and angiogenesis in diabetic mice, suggesting a promising new approach for diabetic ulcer care.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
20 citations
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December 2013 in “PLoS ONE” This study found that β1 integrin-mediated signaling is crucial for the survival, adhesion, and migration of epithelial progenitor cells in human scalp hair follicles, with varying responses observed among cell subpopulations.
This study found that the proteins Par3, mInsc, and Gαi3 cooperate to regulate LGN polarization and promote perpendicular cell divisions during murine epidermal morphogenesis.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
38 citations
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April 2016 in “The Journal of Pathology” This study found that mice lacking alkaline ceramidase 1 with elevated skin ceramide levels showed disrupted skin homeostasis, including altered hair follicle structures, increased water loss, and a hypermetabolism phenotype.
December 2004 in “PLoS ONE” In this study, the Foxn1(-/-) nude phenotype was associated with an altered regulation of epithelial progeny in skin, offering a valuable model for investigating stem cell niche maintenance and regulation.
2 citations
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January 2025 in “Pharmaceutical Research” This article reviews the possible therapeutic activities of Angelica gigas Nakai root extracts and their components, noting their potential effects on neuro-cognitive, metabolic, and other health conditions, and reports no new clinical results.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
January 2025 in “Clinical and Translational Medicine” This research found that exosome-derived long non-coding RNA AC010789.1, modified by FTO and hnRNPA2B1, enhanced human hair follicle stem cell proliferation against androgenic alopecia through the activation of S100A8/Wnt/β-catenin signaling pathways.