32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
February 2014 in “Cancer Research” This study found that MYH9 acts as a tumor suppressor in squamous cell carcinomas by stabilizing p53 in the nucleus, suggesting its role in cancer prevention.
39 citations
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February 1990 in “The journal of cell biology/The Journal of cell biology” This study identified trichohyalin as an early differentiation marker in hair follicles, with potential structural roles related to alpha-helical formations, based on the partial characterization of its cDNA in sheep.
2 citations
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January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” In this study, keratin genes mHa1 and mHb4 were unable to form an extensive keratin network in one cell line, altering endogenous keratin distribution, but showed better integration in another cell line.
July 2026 in “Pediatric Allergy and Immunology”
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
5 citations
,
March 2017 in “Molecular biology of the cell” This article summarizes discussions from a minisymposium on organelle contact sites, highlighting new insights into their roles in cellular processes, but reports no novel experimental results.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
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.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
29 citations
,
October 2016 in “Cell death and differentiation” This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.
11 citations
,
January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
27 citations
,
October 1998 in “Differentiation” Basonuclin helps identify and track hair follicle development and cycling in mice.
33 citations
,
June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
12 citations
,
January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
January 2023 in “International journal of biological sciences” This study found that ATP synthases and the mitochondrial gene COX2 play a key role in determining the size of skin appendages in hedgehogs and mice by influencing energy metabolism and cell proliferation.
This study found that WISP-1 plays a key role in ligamentum flavum fibrosis through the Hedgehog-Gli1 pathway, with cyclopamine showing potential to reduce fibrosis effects in a rabbit model.
1 citations
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October 2023 in “PROTOPLASMA” 7 citations
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January 2011 in “Biochemistry Research International” This study confirms that the proposed universal model for hard α-keratin structure applies to all known forms across various mammalian species.
52 citations
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June 1991 in “Journal of Virology” In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.
118 citations
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August 2010 in “Developmental Cell” This study found that the protein MIM is crucial for maintaining cilia and Sonic hedgehog signaling in mesenchymal cells by counteracting Src-mediated phosphorylation of Cortactin, impacting hair follicle formation.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.