July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
4 citations
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July 2012 in “Linguistic Annotation Workshop” This study found that greater root surface area due to root hairs contributed to better growth and zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
September 2025 in “Journal of Medicinal Chemistry” This study evaluated a chemically modified siRNA, AR-27 E-Chol, which effectively promoted hair regrowth and reduced androgen receptor gene expression in a DHT-induced mouse model of androgenetic alopecia, suggesting its potential as a novel therapeutic candidate.
15 citations
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January 1991 in “Mammalian Genome” 42 citations
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June 2016 in “Developmental Biology” October 2012 in “Sax's Dangerous Properties of Industrial Materials”
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
January 2026 in “SSRN Electronic Journal” 1 citations
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January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
7 citations
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January 2022 in “Plants” This study found that extracts from the rice variety Bue Bang 3 CMU, particularly the husk and bran, demonstrated antioxidant, anti-inflammatory, and anti-androgenic properties, suggesting potential use in treating androgenetic alopecia.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
9 citations
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August 2024 in “International Journal of Molecular Sciences” This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.
7 citations
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May 2025 in “Stem Cell Research & Therapy” This review compiles EV proteomics data and reports that while MSC-derived EVs show promise in skin therapeutics, variability in protein cargo highlights the need for standardized methodologies in understanding process impacts.
2 citations
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September 2025 in “Journal of Clinical Medicine” This review highlights the promise of small extracellular vesicles (sEVs) as biomarkers for sepsis, emphasizing their potential to improve early detection and guide therapeutic decisions by reflecting the immune status and pathogen presence in patients.
December 2025 in “Aesthetic Surgery Journal” This study reviews the role of exosomes in regenerative aesthetics, highlighting their potential in treating conditions like photoaging and wound healing through mechanisms like matrix remodeling and immunomodulation, while also noting advancements in exosome isolation techniques and regulatory considerations.
November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified melatonin as a potential treatment for rosacea and Alzheimer's disease, suggesting it may help by modulating inflammatory and vascular signaling pathways.
4 citations
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February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
October 2022 in “Hair Transplantation” This chapter reviews updated Basic Life Support protocols, including the shift to Compression-Airway-Breathing, but offers no new clinical results, emphasizing the need for AEDs in medical offices.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
1 citations
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January 2010 in “Institutional Repository of Leibniz Universität Hannover (Leibniz Universität Hannover)”
36 citations
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September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.