1 citations
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March 2024 in “Journal of Cellular and Molecular Medicine” In this study, researchers found that 4-Octyl itaconate (4-OI) inhibited cisplatin-induced ferroptosis and protected auditory cells by activating the NRF2/HO-1 signaling pathway, suggesting a potential therapeutic approach for reducing hearing loss associated with cisplatin treatment.
1 citations
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January 2006 in “Maia-rivista Di Letterature Classiche” This review discusses the bioactive compounds and biological activities of Polygonum multiflorum Thunb. and highlights concerns about its hepatotoxicity, but reports no new clinical results.
7 citations
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November 2017 in “Cureus” This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.
64 citations
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March 2004 in “Journal of Clinical Investigation” This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
7 citations
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March 2018 in “Development” This review highlights how in vivo imaging can explore biological processes related to stem cell activity, behavior, and control, but it reports no new clinical results.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
27 citations
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June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
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.
65 citations
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March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
1 citations
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January 2014 in “Hair therapy & transplantation” This report describes benefits of advanced hair transplant techniques, micro-FUE and U-FUE, which may result in natural, undetectable hair restoration and discrete post-procedure appearance.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
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.
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.
2 citations
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August 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that distinct subsets of Hoxd genes in murine vibrissae and chicken feather primordia are regulated by different lineage-specific enhancers, indicating evolutionary changes in chromatin topology contribute to transcriptional robustness.
43 citations
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February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
9 citations
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October 2013 in “Journal of Investigative Dermatology” This study found that the OVOL1 gene in mouse neonatal dermal cells is crucial for hair follicle neogenesis, suggesting it plays a significant role in maintaining trichogenicity.
19 citations
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January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
92 citations
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May 2004 in “Journal of Investigative Dermatology” January 2013 in “Frontiers in Immunology” This study found that mouse parents with uveitis may increase their offspring's susceptibility to experimental autoimmune uveitis, affecting immune processes and the severity of the condition.
33 citations
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September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
November 2022 in “Journal of Investigative Dermatology” This study demonstrated that hiPSC-derived hair-bearing skin organoids lacked sufficient type VII collagen at the epidermal-dermal junction, indicating a need for further maturation to model certain forms of epidermolysis bullosa effectively.
4 citations
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May 2019 in “Zeitschrift für Naturforschung C” This study found that Ishige sinicola extract stimulated osteoblast differentiation and bone formation in MC3T3-E1 cells, suggesting potential use for osteoporosis prevention and treatment.
19 citations
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October 2022 in “The Ocular Surface”