10 citations
,
November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that activating the hexosamine pathway increased hyaluronic acid secretion and hair follicle stem cell numbers in vitro, suggesting its role in modulating skin homeostasis.
18 citations
,
June 2018 in “Journal of Dental Research” This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
August 2009 in “Mechanisms of Development”
February 2025 in “International Journal of Cosmetic Science” This study found that treating hair with ATS, formed from fumaric acid and cysteamine, effectively improved hair quality by increasing moisture content and altering the internal structure of strong curls.
40 citations
,
June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study revealed that deficiency in the enzyme FA2H in mice affected sebaceous gland function, altered sebum composition, and caused cycling alopecia, highlighting FA2H's role in hair follicle homeostasis.
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.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
April 2021 in “Journal of Investigative Dermatology” This trial found that intradermal injections of the Hair Stimulating Complex were well-tolerated and effectively stimulated hair growth and prevented hair loss in male pattern baldness participants over 18 weeks.
5 citations
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
3 citations
,
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
,
September 2021 in “Journal of Molecular Histology” In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
13 citations
,
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.
February 2026 in “Optics” This study demonstrates that polarized second harmonic generation imaging effectively monitors wool fiber stretching, revealing significant structural changes in keratin alignment that improve textile performance.
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.
70 citations
,
February 2009 in “Biological Trace Element Research”
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
13 citations
,
September 2019 in “EBioMedicine” This study found that Secretory Phospholipase A2-IIA (sPLA2-IIA) promotes proliferation through JNK/c-Jun signaling, distinctively affecting normal stem cells and cancer cells, suggesting it as a potential target for cancer treatment.
13 citations
,
November 2007 in “Journal of Structural Biology” Keratin heterodimers are preferred for their specific and structural advantages.
September 2026 in “Angewandte Chemie” In this research, SEU-302, a newly developed covalent organic framework, exhibited significant antibacterial and wound-healing properties in vitro and in vivo, effectively eliminating Staphylococcus aureus and reducing inflammation under light activation, thereby showcasing its potential for therapeutic photodynamic applications.
79 citations
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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.
August 2016 in “Journal of Investigative Dermatology” In this ex vivo study, inhibiting Ezh2 with a small molecule slowed human hair growth by decreasing proliferation and increasing apoptosis in the outer root sheath.
April 2018 in “Journal of Investigative Dermatology” In this study using a transgenic mouse model, Id2 overexpression in hair follicle stem cells prolonged quiescence by affecting gene expression, partly independent from BMP signaling.