12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
7 citations
,
May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” In human hair follicle keratinocytes, this study found that treatment with the pharmacological inhibitor QLT0267 led to a strong inhibition of proliferation and migration and induced nearly 100% apoptosis.
7 citations
,
April 2004 in “International Journal of Dermatology” This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
May 2026 in “Theranostics” This study found that the DKK3-CKAP4 signaling axis is involved in fibroimmune remodeling in androgenetic alopecia and that targeting this pathway may restore a regenerative hair follicle environment, offering a potential therapeutic strategy to counteract hair follicle miniaturization.
February 2024 in “Journal of Investigative Dermatology” In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
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.
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.
119 citations
,
September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
70 citations
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August 2006 in “Cancer Research” This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
176 citations
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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.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
8 citations
,
March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
79 citations
,
June 1993 in “Molecular and Cellular Biology” This study found that as few as 90 base pairs of the K5 promoter directed keratinocyte-preferred expression in stratified epithelia, especially in epidermis, hair follicles, and tongue, showing cell type specificity.
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.
20 citations
,
October 2017 in “Stem Cell Reports” This study found that loss of the ACER1 gene in mice led to increased ceramide levels and progressive hair loss, highlighting ACER1's role in maintaining hair follicle stem cell homeostasis.
16 citations
,
January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” This study presents computational modeling and experimental analysis of the HGT protein KAP8.1, identifying key structural features that may influence hair's response to environmental conditions.
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.
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.
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.
1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
April 2016 in “Journal of Investigative Dermatology” This study found that the peptide derivative beta-Ala-Pro-Dab-NHbenzyl may reduce wrinkles and sebum production in human skin by inhibiting dipeptidyl peptidase 4, suggesting potential for acne and skin inflammation treatment.
4 citations
,
May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
92 citations
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April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that keratin 9 expression in nonpalmoplantar keratinocytes can be induced by signals from palmoplantar fibroblasts, potentially enabling the use of nonpalmoplantar epidermis to treat palmoplantar wounds.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
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.