92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
August 2016 in “Journal of Investigative Dermatology” This study found that the activity of CD73, an enzyme expressed in the hair follicle epithelium, may regulate human hair growth by modulating adenosine production.
4 citations
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May 2022 in “Genes & Diseases” September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
10 citations
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January 2020 in “Genes & Diseases” In this study, circ-Smad5 was found to inhibit the proliferation and cell cycle progression of JB6 cells by suppressing Wnt/β-catenin/Lef 1 signaling activation, marking the first report of its function.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
February 2026 in “ACS Applied Materials & Interfaces” This study developed a novel treatment method using carbon dots from Cinnamomum burmannii leaves, which improved hair regeneration and thickness in an AGA mouse model by promoting cell proliferation, angiogenesis, and reducing inflammation through multiple signaling pathways.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
1 citations
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April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
May 2022 in “The journal of immunology/The Journal of immunology” This study developed a foxn1-deficient Xenopus laevis model using CRISPR/Cas9, observing reduced T-cell markers and altered immune responses in tadpoles, providing a nonmammalian model for immunological research.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
August 2026 in “Clinical Case Reports” In this case report, a patient with diffuse alopecia areata experienced complete hair regrowth after treatment with oral abrocitinib, with no adverse effects observed.
September 2025 in “Stem Cell Research & Therapy” This study found that TAZ promotes adipogenesis in goat adipose-derived mesenchymal stem cells by enhancing PI3K/AKT pathway activity, with overexpression boosting adipocyte formation and knockdown inhibiting it.
In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hemoglobin α is upregulated in epidermal keratinocytes after UV exposure and may function as an antioxidant, particularly for hair follicle stem cells.
21 citations
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January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
45 citations
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May 2003 in “Journal of Cell Science” This study found that α3β1-integrin is crucial for maintaining normal hair follicle morphology in mice, as its deficiency leads to severe abnormalities despite not affecting interfollicular epidermal differentiation.
1 citations
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September 2023 in “Journal of the American Academy of Dermatology” This abstract introduces baricitinib as an approved treatment for adults with severe alopecia areata in the US, Europe, and Japan, but does not report any specific study results or findings.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.