29 citations
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July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
3 citations
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March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
9 citations
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February 2001 in “Journal of Dermatological Science” This study found that the expressions of CDK inhibitors p21waf1/cip1 and p27kip1 were higher during the anagen phase compared to telogen, suggesting a role in follicular epithelial cell differentiation.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting Ube2n in adult mouse skin leads to inflammation and other skin changes, and identifies IRAK1/4 as potential treatment targets for inflammatory skin disorders.
June 2025 in “Frontiers in Immunology” This study reported that anti-Ku-positive patients exhibited heterogeneous muscular features, primarily characterized by necrotizing fibers and vacuolar changes, and suggested that autophagy could be a significant mechanism involved in the pathogenesis.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
November 2023 in “Cell Proliferation” This study found that adipose-derived stem cells with DKK1 knocked out using CRISPR/Cas9 promoted hair growth in an alopecia areata model more effectively than untreated stem cells, suggesting DKK1 is a potential therapeutic target for this condition.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
November 2005 in “PubMed” In this study, the researchers successfully cloned and sequenced the hairless gene cDNA of Kunming mice, revealing high conservation and functional significance among various mammalian species.
In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.
November 2022 in “Journal of Investigative Dermatology” This study explores the role of cell competition in maintaining genomic quality in epidermal stem cells and proposes that this process might influence cancer development in skin tissues.
32 citations
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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.
3 citations
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September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that enhanced wound healing in oral mucosa involves a SOX2-regulated transcriptional network which includes increased expression of keratin K75, and interaction of K75 with the LINC complex may play a crucial role in promoting rapid wound repair.
66 citations
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February 2013 in “PeerJ” This study found that CB1 activation by a specific agonist led to decreased expression of keratins K6 and K16 in human skin and inhibited keratinocyte proliferation, suggesting potential for cannabinoid receptors in psoriasis management.
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.
44 citations
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August 1990 in “PubMed” This study provides evidence for K1 and K10 derivatives' presence in the inner root sheath and hair cuticle, suggesting that these hair follicle parts may follow familiar keratinization principles.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
48 citations
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June 2000 in “Japanese Journal of Cancer Research” This study found that dimethylarsinic acid significantly accelerates skin tumor development in hair follicle-targeted K6/ODC transgenic mice.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
January 2014 in “Max Planck Digital Library” This research describes mouse models to explore Kindlin-1's role in skin disorders, including Kindler syndrome, revealing novel integrin-independent pathways potentially leading to skin tumors.
5 citations
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September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
10 citations
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July 2015 in “Journal of Cosmetic Dermatology” This study found elevated tissue levels of DKK-1 in patients with both androgenetic alopecia and alopecia areata compared to controls, suggesting DKK-1 as a potential therapeutic target for these conditions.
10 citations
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November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.