9 citations
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June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
1 citations
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November 2023 in “International Journal of Molecular Sciences” This study observed that SOX18 promotes the proliferation of dermal papilla cells in Hu sheep by activating the Wnt/β-Catenin signaling pathway, suggesting its key role in wool growth.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
4 citations
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September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
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.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
February 2014 in “Plastic and Reconstructive Surgery” This abstract contains titles of organizations and publication names but reports no study results or findings.
71 citations
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February 1992 in “Journal of Cutaneous Pathology” This study found that monoclonal antibodies identified distinct staining patterns in benign and malignant skin appendage tumors, highlighting their potential as markers for analyzing skin tumors.
14 citations
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April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
32 citations
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January 2020 in “Journal of Molecular Histology” This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
July 2025 in “Journal of Investigative Dermatology” April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
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.
38 citations
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November 1991 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Keratins 8 and 14 can help identify and diagnose benign skin tumors.
4 citations
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August 1999 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that p21 is much more highly expressed in normal melanocytes compared to melanoma cells, suggesting a potential target for preventing melanoma progression through cell cycle repair processes.
January 2020 in “Juntendo Medical Journal” The document's conclusion cannot be determined as the content is not available.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.
1 citations
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October 2023 in “PROTOPLASMA”
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
February 2014 in “Plastic and Reconstructive Surgery” This abstract provides no new research findings; it appears to be text related to the American Society of Plastic Surgeons' educational resources.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.