4 citations
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October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
January 2005 in “Enlighten: Publications (The University of Glasgow)” In this transgenic mouse study, preliminary findings suggest that overt melanocyte hyperplasia may require prior keratinocyte hyperplasia, indicating a potential role for keratinocyte mutation in early melanoma development.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
July 2025 in “Frontiers in Medicine” In this case study, an 8-year-old boy with alopecia totalis experienced significant hair regrowth after baricitinib treatment, suggesting KRT74 variants may influence immune dysregulation in this condition.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
23 citations
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January 2005 in “Nihon Ishinkin Gakkai zasshi” This case study identified Trichophyton rubrum as the cause of trichophytia profunda acuta in a patient using nested PCR, suggesting an alternative diagnostic approach when KOH tests and cultures fail.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
31 citations
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April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
7 citations
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January 2025 in “Journal of Experimental & Clinical Cancer Research” This study found that PRMT5 inhibitors showed potent anti-tumor activity in models of adenoid cystic carcinoma and that combining these inhibitors with lenvatinib may have additional growth-inhibitory effects.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
53 citations
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May 1988 in “Journal of Molecular Evolution” July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
75 citations
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October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
149 citations
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July 2000 in “Molecular and Cellular Biology” This study found that MK6a-deficient mice showed delayed reepithelialization after superficial wounding but not after full-thickness skin wounds, suggesting MK6a plays a role in activating follicular keratinocytes post-wounding.
2 citations
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September 2020 in “Biomedical materials” This study found that recombinant human hair keratin proteins K31 and K81 show greater potential for inducing skin cell differentiation compared to natural keratin coatings.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.
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.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
9 citations
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September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
11 citations
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May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
25 citations
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September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.