4 citations
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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.
38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
3 citations
,
December 2021 in “Proteins” This study found that straight crimp mutant wool differs from crimpy wool in the layout of cortical cells and the relative proportions of keratin and keratin-associated proteins.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
1 citations
,
May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
77 citations
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February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” In this study, Tanimura et al. reported that loss of collagen XVII in mice leads to hair loss and pigmentation defects, potentially due to impaired TGF-beta signaling affecting melanocyte stem cell maintenance.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that AP-2α and AP-2β are critical for maintaining epidermal homeostasis in adult skin, with their combined loss leading to severe skin and hair abnormalities and early skin inflammation due to impaired keratinocyte differentiation.
43 citations
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August 1994 in “Journal of Investigative Dermatology” 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.
July 2025 in “International Journal of Molecular Sciences” This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study concluded that KLF4 is a crucial regulator of hair follicle stem cell quiescence and may work by interacting with multiple transcription factors to control related genes.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
1 citations
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July 2025 in “JCI Insight” This study found that Krox20 marks a diverse stem cell population in mouse hair follicles, which significantly contributes to the interfollicular epidermis and regulates epidermal homeostasis.
11 citations
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March 2021 in “Molecular Carcinogenesis” This study found that deleting the transcription factor Twist1 in keratinocytes significantly reduced UVB-induced skin carcinogenesis in mice, suggesting a potential target for preventing cutaneous squamous cell carcinoma.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
25 citations
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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.
226 citations
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May 2004 in “Journal of Biological Chemistry” This study identified collagen XXII as a novel extracellular matrix protein specifically present at tissue junctions, where it functions as a cell adhesion ligand for skin epithelial cells and fibroblasts.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
33 citations
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May 2018 in “Stem Cell Reports” This study demonstrates that Krt15 marks long-lived, multipotent, and injury-resistant crypt cells in the small intestine, which may serve as the cell of origin in intestinal cancer.