2 citations
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December 2016 in “Experimental cell research” This study reveals that CSPG4-positive basal cell keratinocytes show distinct global gene expression from CSPG4-negative cells, despite similar colony-forming efficiency.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
3 citations
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February 2022 in “Journal of Dermatological Science” This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
11 citations
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January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
71 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
1 citations
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October 2018 in “PubMed” In a mouse model of infected burns, this study found that treatment with recombinant fusion peptide EK significantly decreased Pseudomonas aeruginosa colony count and improved wound healing rates compared to controls.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers conducted additional IHC staining on equine skin sections and found that collagen type III primarily labels the extracellular matrix, while anti-PDGFR-antibody staining highlights cells with long-shaped processes mainly arranged around hair follicles.
This study observed that the expression of EGF and EGFR increased during goat fetal skin development, suggesting these components play significant roles in skin maturation.
120 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that C8/144B antibody exclusively binds to the hair follicle bulge and not the epidermal stratum basale, with cytokeratin 19 serving as a key marker of certain basal keratinocytes that decrease with age.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
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.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
68 citations
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December 1983 in “British Journal of Dermatology” This study found HLA and beta 2-microglobulin antigens in various skin structures, with specific localization patterns in keratinocytes and hair follicle components, but not in eccrine or apocrine glands.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
28 citations
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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.
February 2013 in “Journal of the American Academy of Dermatology” In this study, the HairCheck device was reported to accurately assess changes in hair density and diameter, suggesting its usefulness in monitoring alopecia progression and treatment response.
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.
354 citations
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February 2011 in “Genes & Development” This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.
91 citations
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June 2011 in “The EMBO Journal” This study demonstrates that hair follicle bulge stem cells can transition into other stem cell compartments, indicating their role in maintaining both hair follicles and sebaceous glands.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.