13 citations
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November 2007 in “Journal of Structural Biology” Keratin heterodimers are preferred for their specific and structural advantages.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
94 citations
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October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
4 citations
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January 2021 in “Current Research in Physiology” This study found that high levels of μ-crystallin in skeletal muscle are associated with greater fat metabolism and a shift in gene expression towards slower muscle function.
104 citations
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July 1994 in “The Journal of Cell Biology” This study suggests that basonuclin in keratinocytes is likely a regulatory molecule linked to maintaining proliferative capacity and preventing terminal differentiation rather than a cell cycle marker.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
19 citations
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December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
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.
November 2022 in “Journal of Investigative Dermatology” This study found that the cytoplasmic dynein component Dynlt3 is essential for effective melanosome transport and transfer in mouse melanocytes, linking melanosome positioning and acidity to the Wnt/β-catenin signaling pathway.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
47 citations
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September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
9 citations
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February 2016 in “Anatomical Science International” Hair proteins change location and structure as hair cells mature.
138 citations
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November 1977 in “Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics” 28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that prostasin's proteolytic activity is necessary for normal hair follicle development in mice, but not for interfollicular epidermal development.
15 citations
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August 2019 in “F1000Research” This review discusses the physiological roles of anthrax toxin receptors CMG2 and TEM8, highlighting their influence on extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity, and reports no new clinical results.
22 citations
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September 2000 in “Journal of Investigative Dermatology” This study found that mu-crystallin gene expression in mouse skin is highest during the anagen phase of hair development, suggesting its possible role in hair follicle growth.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
31 citations
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February 2007 in “Journal of Structural Biology” Oxidation changes the structure of hair protein filaments, causing them to compact and rearrange.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
100 citations
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November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.