28 citations
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
This study found that FGF5 alternative spliceosomes inhibit dermal papilla cell proliferation and regulate hair follicle growth-related gene expression, impacting hair follicle development in rabbits.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
January 2022 in “Archiv für Tierzucht” This study found that EPHA4 and Ephrin A3 genes are differentially expressed during hair follicle development in fine-wool sheep, suggesting roles in follicle regeneration and density.
2 citations
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May 2022 in “Research Square (Research Square)” This study demonstrates that the amino-terminally shortened KGF-1 variant with 135 residues maintains biological activity, suggesting it may serve as an alternative to the original KGF-1 for certain therapeutic applications.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
25 citations
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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.
5 citations
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May 2023 in “Microbial Cell Factories” This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.
77 citations
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April 2004 in “Gene expression patterns” This study observed specific expression patterns of three zebrafish estrogen receptor genes during development, highlighting robust co-expression of esr2a and esr2b in primary neuromasts, branchial arches, and other tissues.
8 citations
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August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
January 2025 in “PLoS ONE” This study identified the transcription factor Elf5 as a novel regulator of keratinocyte proliferation and differentiation in skin, with expression elevated in stem/progenitor cell populations, suggesting its potential role in determining cell fate during skin and hair development.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
6 citations
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January 2018 in “Advances in experimental medicine and biology”
16 citations
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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.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that GLI2 plays a key role in activating follistatin, an activin/BMP antagonist, in response to hedgehog signaling in human epidermal cells, with implications for hair follicle development and basal cell carcinoma.
6 citations
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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.
February 2024 in “Skin research and technology” The researchers in this study identified molecular mechanisms involved in frontal fibrosis alopecia, highlighting immune response and fatty acid metabolism, and developed a four-gene diagnostic model showing high accuracy in distinguishing affected individuals from controls.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
30 citations
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June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.
13 citations
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February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
10 citations
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December 2015 in “Experimental dermatology” This study found that in mice, EGFR activation suppresses mitotic regulators like Rcc2 and Stathmin 1, facilitating the transition to catagen in hair follicles.
2 citations
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July 2023 in “International Journal of Molecular Sciences” This study found that applying a formulation derived from Bacopa procumbens significantly promoted hair growth, pigmentation, and follicular cycle acceleration in mice compared to minoxidil, potentially offering a new therapeutic approach for hair health.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.