24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
This article discusses the role of epimorphin as a key morphoregulator for various epithelial cells in tubulogenesis and reports no experimental results on its signaling pathways.
30 citations
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December 2014 in “BMC Genetics” This study found thousands of differentially expressed genes and proteins that may be associated with wool growth, suggesting potential gene families involved in hair growth regulation.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
70 citations
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March 1997 in “Journal of Investigative Dermatology”
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” This study found that the expression of the protein SOX2 is associated with the potential for beige adipocyte formation and adipocyte plasticity in both human and mouse models.
17 citations
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December 2006 in “Gene Expression Patterns” This study reports that the mouse Scube3 gene is expressed in various tissues during embryonic development, including the neural tube, limb buds, developing tooth, hair follicle, and skeletal regions.
77 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human skin expresses proenkephalin, whose expression is upregulated by environmental stress and varies in pathological conditions, increasing in psoriasis and decreasing in melanocytic tumors.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
19 citations
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November 2016 in “Developmental Biology” 372 citations
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December 2004 in “Nature Genetics”
In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
April 2021 in “Journal of Investigative Dermatology” This study developed a transgenic mouse model to explore androgenetic alopecia, finding that inducible COX2 expression led to sebaceous gland changes and hair miniaturization, with reversible effects upon reducing COX2.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
8 citations
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January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
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.
10 citations
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November 2021 in “PLoS ONE” This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
99 citations
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February 2000 in “PubMed” This study found that overexpression of PKCepsilon in transgenic mice reduced papilloma development but accelerated carcinoma formation in a skin tumor promotion model.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
11 citations
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July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
8 citations
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January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
51 citations
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September 2012 in “Gene” In this study, researchers identified a putative ovine KAP24-1 gene in sheep, revealing four unique DNA sequences with some similarity to KRTAP24-1 sequences from other species.
67 citations
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December 1990 in “The journal of cell biology/The Journal of cell biology” This study identified two evolutionarily conserved ultra-high-sulfur keratin proteins in human and sheep hair follicles, which are specifically expressed in the hair cuticle during the late stages of fiber development.
August 2025 in “BMC Genomics” In this study, researchers found distinct gene expression patterns in Standardbred trotters capable of racing barefoot, suggesting a genetic basis for hoof strength and identifying specific genes involved in hoof biology, which could enhance equine performance and wellbeing through targeted genetic research.
92 citations
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May 2004 in “Journal of Investigative Dermatology”