35 citations
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April 2009 in “Journal of Neuroscience Research” In this study, HDAC inhibitors promoted the differentiation of rat C6 glioma cells through the production of 5α‐reduced neurosteroids, enhancing serotonin-stimulated BDNF gene expression.
3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
January 2025 in “SSRN Electronic Journal” This study developed a bioinspired hydrogel (BD@HH6) that exhibited strong antimicrobial and antioxidant properties, accelerated wound healing in mice by promoting angiogenesis and reducing inflammation, and represents a potential new approach for managing chronic wound infections without relying on antibiotics.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
10 citations
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January 2011 in “Annals of Dermatology” This case study describes a unique instance of warty dyskeratoma involving two adjacent hair follicles within one lesion.
May 2025 in “International Journal of Molecular Sciences” In a mouse study, Fr2 from Platycladus orientalis L. significantly enhanced hair growth, suggesting its potential as a natural therapeutic agent for hair regeneration.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hemoglobin α is upregulated in epidermal keratinocytes after UV exposure and may function as an antioxidant, particularly for hair follicle stem cells.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
January 2026 in “Biomaterials” 12 citations
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April 2023 in “Molecular Pharmaceutics” This study demonstrated that a microarray patch can deliver antibodies in a controlled and prolonged manner, maintaining their functionality after manufacturing and heat exposure, with successful pharmacokinetic proof-of-concept in rats.
April 2017 in “Plastic & Reconstructive Surgery Global Open” This study suggests that while hyaluronan production by Has2 is not necessary for reepithelization, it plays a crucial role in collagen matrix reorganization during wound healing.
47 citations
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August 2024 in “Science Advances” This study introduces a new biomimetic double wound mask designed to promote scarless healing by coordinating multiple biological pathways and providing enhanced protection and nourishment to wounds.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
November 2002 in “Hair transplant forum international” This announcement from the President of the American Board of Hair Restoration Surgery reports the formation and incorporation of the International Board of Hair Restoration Surgery, but offers no new research findings.
8 citations
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September 2017 in “Scientific Reports” This study found that the mitotic arrest deficient protein MAD2B negatively affects TCF4-induced growth and proliferation of dermal papilla cells, which are vital for hair follicle development.
November 2022 in “Journal of Investigative Dermatology” This study found that stimulating the olfactory receptor OR2A4/7 with cyclohexyl salicylate promoted human hair growth and increased progeny of hair follicle epithelial stem cells in an ex vivo setting.
December 2000 in “日本組織細胞化学会総会プログラムおよび抄録集” 3 citations
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January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
6 citations
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December 2021 in “PLoS Genetics” This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
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.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.