4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” In this study, AgK114 was found to be transiently induced in hamster epidermal keratinocytes following skin damage, suggesting its role in the recovery process after injury.
74 citations
,
March 2013 in “Development” This study found that Hopx labels a long-lived progenitor population in hair follicles, which contributes to hair follicle stem cell homeostasis and has an alternative origin from previously thought progenitors.
3 citations
,
December 2020 in “Scientific reports” This study found that mitochondrial oxidative phosphorylation in epithelial cells is necessary for proper enamel formation and odontoblast differentiation in developing incisor teeth in K320E-Twinkle Epi mice.
24 citations
,
October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
January 2015 in “Elsevier eBooks” This chapter reviews the recent understanding of carbonic anhydrase VI's functions, including its role in biological processes, but presents no new experimental results.
20 citations
,
April 2009 in “Cell Biology International” This study demonstrates that bulge KSCs from hair follicles can transdifferentiate into corneal epithelial-like cells under specific conditions, which could support bioengineered cornea development.
52 citations
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April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
176 citations
,
February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
2 citations
,
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.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
27 citations
,
July 2017 in “Scientific Reports” This study found that conditional knockout of N-WASP in keratinocytes of mice led to skin barrier defects, increased immune cell infiltration, and hyperproliferation of keratinocytes, indicating its crucial role in skin homeostasis.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
July 2025 in “Journal of Investigative Dermatology” 22 citations
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November 2014 in “Proteins Structure Function and Bioinformatics” In this study, researchers mapped cysteine accessibility in wool keratins and KAPs, revealing that certain cysteines in keratin end domains and Types I and II rod domains are accessible and likely involved in forming disulfide bonds.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
4 citations
,
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.
37 citations
,
November 2007 in “Journal of Biological Chemistry” This study found that increased intracellular expression of thymosin β4 is necessary and sufficient to induce PAI-1 gene expression in endothelial cells, potentially mediated through Ku80 as a novel receptor.
14 citations
,
March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
April 2018 in “Journal of Investigative Dermatology” This study found that keratin filament networks in SG1 cells of mice undergo dynamic changes during cornification, impacting the barrier function of the stratum corneum.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
In this study, researchers analyzed over 5,000 T cells per sample using scRNA+TCR-seq technology and found that dual TCR Tregs are present in high proportions across various mouse tissues, showing unique TCR pairing patterns, V(D)J usage, and mRNA expression compared to single TCR Tregs.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
This study identified that α-ketobutyrate (α-KB) extends lifespan and improves health markers in Caenorhabditis elegans and aged mice by modulating pyruvate metabolism and activating AMPK pathways, with potential implications for human anti-aging treatments.