22 citations
,
March 1994 in “Journal of Heredity” In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
June 2017 in “Mechanisms of development” Hox genes control hair follicle stem cell regeneration in different body regions.
42 citations
,
June 2002 in “Molecular and Cellular Biology” In this study, researchers identified distinct chromatin regions and regulatory elements that drive keratinocyte-specific gene expression, highlighting complex enhancer modules influencing skin epithelium through a combination of transcriptional activators and repressors.
3 citations
,
April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
January 2023 in “International Journal of Zoological Investigations” This study identified that certain genetic polymorphisms in IL-16 are associated with an increased risk of alopecia areata in an Iraqi population.
21 citations
,
October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
26 citations
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August 2019 in “Stem Cell Research & Therapy” This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.
245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
4 citations
,
May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
January 2004 in “Chinese Journal of Dermatology” This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.
15 citations
,
January 1991 in “Mammalian Genome”
30 citations
,
August 2021 in “Oncogene” This study reports that miR-22 promotes cancer progression and metastasis by maintaining Wnt/β-catenin signaling and cancer stem cell function.
149 citations
,
July 2000 in “Molecular and Cellular Biology” This study found that MK6a-deficient mice showed delayed reepithelialization after superficial wounding but not after full-thickness skin wounds, suggesting MK6a plays a role in activating follicular keratinocytes post-wounding.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
43 citations
,
October 2006 in “Journal of Cell Science” In this study, researchers found that contrary to expectations, keratin 10 domains did not reduce cell proliferation and instead increased tumor development in genetically modified mice.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
10 citations
,
August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
31 citations
,
March 1995 in “Journal of Investigative Dermatology”
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
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.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
November 2024 in “Biochemical and Biophysical Research Communications” In this study, researchers observed that mutant mice with a genetic hair loss condition exhibited significant differential expression of genes related to keratinization and hair follicle formation, providing insights into potential strategies for understanding and treating alopecia.