December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
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” 33 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 13 citations
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August 1985 in “The Journal of Dermatology” This study identified a monoclonal antibody, HKN-2, that recognizes specific cells in human skin and may indicate a common antigenic determinant between hair and other skin epithelial tissues.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
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.
69 citations
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August 1988 in “Journal of Investigative Dermatology” 8 citations
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October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
1 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that targeting HSP70 can suppress basal cell carcinoma growth, underscoring the importance of tumor microenvironment interactions in cancer progression.
78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
6 citations
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April 2012 in “Journal of Oral Pathology and Medicine” This study suggests that Rushton’s hyaline bodies form through both epithelial changes leading to hair keratin production and hemorrhage supplying erythrocytic substances, resolving previous debates about their origin.
68 citations
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December 1983 in “British Journal of Dermatology” This study found HLA and beta 2-microglobulin antigens in various skin structures, with specific localization patterns in keratinocytes and hair follicle components, but not in eccrine or apocrine glands.
5 citations
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June 2024 in “Experimental Dermatology” This study found that elevated beta-hydroxybutyrate levels may worsen the inflammatory immune response in alopecia areata patients and could indicate a poor prognosis with chronic hair loss.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
30 citations
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January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
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.
28 citations
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December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.
June 2026 in “Research Square” This study identified a group of dermal fibroblasts near hair follicle stem cells in mice that facilitate hair regeneration by creating a biomechanically compliant extracellular matrix, enhancing stem cell activation and promoting a positive feedback loop for tissue regeneration.
In this case report, a 36-year-old patient undergoing secukinumab treatment for psoriasis experienced both hepatitis B reactivation and hair discoloration, suggesting a potential link between these effects, though further studies are needed to understand this relationship.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.
1 citations
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December 2004 in “Hepatology” This study found that in lamivudine-resistant hepatitis B patients, tenofovir significantly reduced HBV DNA levels faster and more consistently than adefovir, reaching undetectable levels in all treated patients by 44 weeks.