April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
January 2024 in “Doria (University of Helsinki)” This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.
February 2023 in “Research Square (Research Square)” This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
42 citations
,
February 2019 in “Circulation” This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
28 citations
,
March 2017 in “Endocrinology” In this study, the researchers found that vitamin D and calcium signaling in keratinocytes are essential for normal skin regeneration after wounding, with deficiencies significantly delaying wound closure and re-epithelialization in mice.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
25 citations
,
October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
40 citations
,
March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
2 citations
,
March 2018 in “Biotechnology Letters” In this study, researchers established three specific cell lines from Cashmere goat hair follicles and found that cytokeratin 13 might be a novel biomarker for identifying dermal sheath cells.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
July 1995 in “Journal of Dermatological Science” 4 citations
,
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
56 citations
,
February 2010 in “PLOS ONE” This study demonstrates that canonical Wnt signaling is crucial for maintaining thymic epithelial microenvironments in postnatal thymus, possibly by affecting TEC progenitor cells.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
8 citations
,
September 2020 in “Genes & Genomics”
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
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.
October 2025 in “Cell Death and Disease” In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.
September 2016 in “Journal of dermatological science” This study found that COL17 plays a key role in regulating epidermal keratinocyte differentiation and proliferation, influencing the expression of differentiation markers and cellular growth in specific conditions.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” This study found that overexpressing the 14-3-3σ protein in transgenic mice reduced keratinocyte proliferation and migration, leading to thinner epidermis and fewer hair follicles due to IGF-1 pathway inhibition.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
4 citations
,
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.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.