87 citations
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July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
1 citations
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April 1998 in “PubMed” This study suggested that Nexin 1, a powerful serine-protease inhibitor, may have a role in regulating hair follicle growth by influencing cellular growth and differentiation.
26 citations
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February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
81 citations
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February 2014 in “EMBO molecular medicine” This study found that prolonged Nrf2 activation in mouse keratinocytes led to enlarged sebaceous glands, hair loss, and cysts, suggesting a role for Nrf2 in conditions like MADISH.
83 citations
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May 2011 in “Experimental Dermatology” In this study, researchers identified nine new sheep keratin genes, highlighting species-specific differences in the expression and compartmentalization of wool-related keratin genes compared to humans.
17 citations
,
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.
30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
73 citations
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January 2002 in “Journal of Investigative Dermatology” In this study, researchers found that connexin 43-negative cells in the basal layer of the epidermis could serve as markers for keratinocyte stem cells, aiding their identification and separation.
August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.
June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
5 citations
,
July 2014 in “Molecular Biology Reports”
April 2023 in “Journal of Investigative Dermatology” This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.
17 citations
,
July 2022 in “BMC Genomics” This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.
2 citations
,
July 2024 in “International Journal of Molecular Sciences” In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
47 citations
,
April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
16 citations
,
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.
10 citations
,
May 2007 in “Oncology Reports” This study found that increased metastatic ability in colorectal cancer in a rat model was linked to changes in expression of multiple genes, including TGF-beta, PDGFb, and Rho B.
11 citations
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July 2016 in “Endocrinology” This study found that higher Lnk expression in PCOS patients may contribute to insulin resistance by inhibiting insulin signaling pathways.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” The researchers reported that both estrogen receptors ERα and ERβ are expressed in human testis, and identified two novel genes, Aven and Regucalcin, linked to estrogen and androgen regulation, which may be crucial for spermatogenesis.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
13 citations
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October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
119 citations
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June 2005 in “Journal of Molecular and Cellular Cardiology” This article reviews the therapeutic potential of potassium channel openers for various conditions related to metabolic distress but does not report new clinical results; it emphasizes the need for further research.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.