100 citations
,
November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
49 citations
,
March 2004 in “Journal of Investigative Dermatology” This study found that the hHa7 gene in hair follicle trichocytes is the first identified to have its expression directly regulated by androgens, suggesting it as a marker for androgen action on hair follicles.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
29 citations
,
January 2017 in “Journal of Investigative Dermatology” This study found that increased MSI2 expression in hair follicle stem cells can delay hair growth by maintaining stem cell quiescence and repressing Hedgehog signaling.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
28 citations
,
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.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
18 citations
,
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.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
2 citations
,
January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
This abstract consists of a glossary of medical terms related to blood and other conditions, without reporting any new research findings.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
February 2025 in “Infectious Diseases & Immunity” This case report highlights two instances of suspected human herpesvirus 6 reactivation in patients with existing psychiatric disorders, underscoring the need for further research into the relationship between viral reactivation and psychiatric conditions.
In this study, human umbilical cord mesenchymal stem cell-derived exosomes were found to promote the growth of human hair dermal papilla cells, partly by enhancing AKT-dependent signaling pathways, suggesting a potential role in treating hair loss.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” According to this study, human scalp hair follicles containing pluripotent stem cells demonstrated the ability to differentiate into cardiac muscle cells and other cell types, suggesting potential applications in heart and nerve regeneration.
This study found that platelet-rich plasma significantly enhanced the viability, as well as the expression of alkaline phosphatase and versican, in human hair dermal papilla cells compared to controls.
March 2004 in “大韓韓醫學會誌 = Journal of Korean Oriental Medicine” This review discusses two FDA-approved drugs for androgenetic alopecia, finasteride and minoxidil, and reports no new research findings.
January 2000 in “Zhongguo yixue wulixue zazhi” This study observed that human hair keratin showed distinct morphological features depending on the dissolution speed, which could have potential applications in clinical settings for developing self-tendons.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
8 citations
,
June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
175 citations
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August 1997 in “Nature Genetics”