61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
13 citations
,
September 2012 in “Cell & tissue research/Cell and tissue research” In this study, researchers found that the pCLCA2 protein is expressed in specific areas of pig skin, but its role in skin structure or function remains unclear.
2 citations
,
October 2024 in “Phenomics” January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
53 citations
,
May 1988 in “Journal of Molecular Evolution”
6 citations
,
October 2022 in “Journal of cell science” This study re-analyzed single-cell RNAseq data from human and mouse skin, confirming and refining insights into keratin gene regulation during keratinocyte differentiation in epithelial tissues.
2 citations
,
August 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that distinct subsets of Hoxd genes in murine vibrissae and chicken feather primordia are regulated by different lineage-specific enhancers, indicating evolutionary changes in chromatin topology contribute to transcriptional robustness.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
29 citations
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July 2014 in “PloS one” In this study, Meis1 was found to regulate epidermal homeostasis and act as a proto-oncogenic factor in skin tissues, with differences in expression patterns between normal and tumor cells.
122 citations
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May 2010 in “Plant Physiology” This study found that expressing certain PIN proteins in Arabidopsis root hairs inhibited growth by decreasing auxin levels, while PIN5 slightly stimulated growth, demonstrating differential effects on auxin transport.
September 2023 in “UCrea (University of Cantabria)” In this study, researchers found that mouse digits without nails could not regenerate after amputation, highlighting the necessity of nails for fingertip regeneration and suggesting a potential role for the Lmx1b gene in this process.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.
40 citations
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October 2009 in “Journal of Biomedical Nanotechnology” This review discusses pyrene excimer nucleic acid probes for detecting biomolecules and protein-DNA interactions and reports no new experimental findings.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
6 citations
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October 2020 in “Frontiers in cell and developmental biology” This study found that WWOX deficiency in mice leads to impaired skin development, reduced epidermal thickness, and significant hypothermia due to disrupted cell proliferation and homeostasis.
September 2026 in “Aging Cell” This study found that knocking down SFRP2 in an AGA model improved hair regeneration and reduced cellular dysfunction, suggesting that targeting the SFRP2-FSTL1 axis could be a promising therapeutic strategy for androgenetic alopecia.
This study identified a high proportion of dual TCR Treg cells in both lymphoid and non-lymphoid tissues of mice, revealing their tissue specificity, TCR repertoire characteristics, and functional phenotypes.
26 citations
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April 1996 in “Journal of Investigative Dermatology” January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
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.
44 citations
,
April 2017 in “Genes & development” This study identified hair shaft progenitors in the matrix that regulate hair growth and pigmentation by creating a niche dependent on stem cell factor, implicating KROX20+ cells in these processes.
249 citations
,
May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
This study found that the transcription factor Meis2 regulates the maturation and innervation of sensory neurons in mice, affecting their response to light touch.
64 citations
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March 2004 in “Journal of Clinical Investigation” This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.
54 citations
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January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.