August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
1 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that epithelial cell metabolism exhibits distinct heterogeneity based on cell density, particularly during the pre-epithelial transition stage where clusters of high and low mitochondrial potential cells emerge.
22 citations
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June 2008 in “Experimental Dermatology” This study found that heparanase is primarily located in the inner root sheath of human hair follicles during the anagen phase, and inhibiting it in cultured hair follicles induces a catagen-like process.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
September 2017 in “Journal of Investigative Dermatology” This study found that the expression levels of Siah1 and Siah2 in mice skin vary dynamically during postnatal hair follicle development, suggesting their specific roles in modulating the HIF pathway.
13 citations
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January 2002 in “Biological chemistry” This study found that hair follicle-specific keratins can form different structural assemblies depending on ionic conditions, with hair cortex keratins requiring physiological salt conditions to form intermediate filaments.
4 citations
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May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
2 citations
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January 1990 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.
October 2019 in “European Journal of Dermatology” This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
February 2026 in “International Journal of Homoeopathic Sciences” In this case report, a middle-aged male with Grade V androgenetic alopecia saw sustained improvement in hair loss and quality of life after individualized homeopathic treatment at Dr Batra’s Homeopathy Clinic, despite previous therapies failing to provide long-term satisfaction.
10 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
4 citations
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December 1995 in “Anthropologischer Anzeiger” This study reports that electrophoretic patterns of hair keratins are more similar among family members than unrelated individuals, potentially aiding genetic studies.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
12 citations
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December 2003 in “Gene” This study characterized the Hoxc-13 gene from sheep wool follicles, noting its potential autoregulatory role and potential influence on skin function beyond hair keratin regulation.
22 citations
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January 2006 in “Journal of Structural Biology” Hair follicles form hard α-keratin filaments in four steps, showing structural differences.
February 2013 in “Journal of The American Academy of Dermatology” There is no significant link between insulin resistance and certain hair disorders like idiopathic hirsutism and androgenic alopecia.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
2 citations
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January 1993 This study found that human trichohyalin has a unique protein sequence potentially contributing to at least three important functions in hair follicle and epidermal cells.
1 citations
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January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
42 citations
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July 2015 in “PLoS ONE” This study presents the first detailed 3D models of the complete K1/K10 keratin dimer and identifies structural features and interactions that may inform understanding of keratin filament assembly.
5 citations
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February 2017 in “Biomolecules & Therapeutics” The authors reported that 4-O-methylhonokiol decreased TGF-β1-induced cell cycle arrest and oxidative stress markers in human keratinocyte cells, suggesting a potential protective role in TGF-β1-mediated cell cycle regulation.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
December 2025 in “ILDS-DEV”
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
September 2014 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This study found that high-speed optical coherence tomography may be a promising non-invasive tool for analyzing human hair conditions.