7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
December 2020 in “Research Square (Research Square)” This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” In this study, researchers found that knockdown of ABCA5 in primary human hair follicle keratinocytes disrupted cholesterol homeostasis and transportation, suggesting its potential role in hair growth disorders by affecting intracellular cholesterol compartmentalization and LXR-mediated transcriptional activity.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
2 citations
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October 2025 in “Cells” This review discusses the multifunctional role of PKM2 in promoting cardiac repair and regeneration, highlighting its potential as a therapeutic target in cardiovascular medicine, but reports no new experimental results.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.1 gene were significantly associated with cashmere weight, length, and guard hair length in Chinese Inner Mongolian Cashmere goats, but not with fibre diameter.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
18 citations
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February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
28 citations
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December 2001 in “European Journal of Pharmacology” This study found that the compound M50054 inhibits apoptosis by blocking caspase-3 activation and may improve chemotherapy-induced alopecia and hepatitis symptoms.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 4 citations
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January 1991 in “PubMed” The study examined cytokeratin expression in different bovine epithelial tissues, finding that hair follicles and nasolabial glands express both acidic and basic types, while other epithelia express only one type.
105 citations
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October 2018 in “Nature” This study found that vismodegib promotes Basal cell carcinoma regression by inducing tumor differentiation but leaves a small population of quiescent cells that can drive relapse, which can be eliminated by adding a Wnt signaling inhibitor.
76 citations
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February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
February 2026 in “Toxicology Letters” This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.
48 citations
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August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
22 citations
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July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
8 citations
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May 2004 in “Textile Research Journal” This study reports promising preliminary results for using monoclonal antibodies to identify cashmere fibers, highlighting observed immunological differences from wool keratins.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
This study identified CXXC5 as a key mediator of hair loss induced by PGD2 and DHT via suppression of the Wnt/β-catenin pathway, with implications for potential therapeutic targets.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.