20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
1 citations
,
May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
70 citations
,
March 2002 in “Journal of Burn Care & Rehabilitation” This study found that HB-EGF and TGF-α work together to stimulate wound healing in a murine model of thermal injury, with peak keratinocyte proliferation observed by postburn day five.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
28 citations
,
February 2007 in “Cancer Research” This study found that inhibiting C/EBP transcription factors in mouse skin reduced papilloma formation and caused systemic hair loss, suggesting C/EBP may be a potential therapeutic target.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
25 citations
,
April 2008 in “Clinical and experimental dermatology” This case series describes Erythromelanosis follicularis faciei et colli in five Indian patients, suggesting it may be more common than currently reported.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that treating human skin explants with TPA increased the number of certain melanocyte phenotypes in the interfollicular epidermis, suggesting that this ex vivo model can effectively replicate human skin's pharmacologic responses for studying potential treatments.
39 citations
,
December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
April 2012 in “The FASEB Journal” In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.
21 citations
,
August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
3 citations
,
July 2022 in “Indian Journal of Dermatology” This report describes a case of acute localised exanthematous pustulosis in a 19-year-old boy after using amoxicillin-clavulanic acid, with new dermoscopic features identified.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
10 citations
,
October 2015 in “Medicina Clínica (english Edition)” This review discusses the therapeutic potential and safety of bioidentical recombinant human epidermal growth factor (rhEGF) for various skin and mucosa conditions and reports no new clinical results.
6 citations
,
September 2022 in “Frontiers in pharmacology” In this study, Epimedii Folium extract was found to enhance melanin production and promote pigmentation through mechanisms involving the MAPK/ERK1/2 pathway in both in vitro and in vivo models.
This research observed that EGFR activity appears to maintain hair follicle quiescence and immune privilege, and its inhibition may lead to stem cell apoptosis and scarring alopecia during inflammation.
12 citations
,
February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 4 citations
,
July 2014 in “The Journal of Dermatology” This letter to the editor discusses plaque-type herpetic folliculitis involving the eccrine gland and does not report new research findings.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
43 citations
,
August 2016 in “International Journal of Nanomedicine” This study found that a eupafolin nanoparticle delivery system improved water solubility and skin penetration, enhancing its antioxidant and anti-inflammatory effects against particulate matter-induced stress in skin cells.
48 citations
,
April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
29 citations
,
December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
September 2023 in “Çukurova medical journal (Online)/Çukurova medical journal” This study observed that EZH2 expression scores in the epidermis, dermis, and hair follicles decrease with gestational age in human fetuses, and these scores were significantly higher in adults, indicating that lower EZH2 levels may be required for full skin differentiation and maturation before birth.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.