5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
3 citations
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October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” This study found that finasteride was nongenotoxic in Drosophila, while doxazosin mesylate and saw palmetto induced homologous recombination, indicating potential genotoxic actions under the test conditions.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
April 2019 in “Journal of Investigative Dermatology” This clinical trial found that topical application of Sandalore® 1% significantly reduced hair shedding and increased hair volume in women with telogen effluvium compared to placebo.
1 citations
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May 2016 in “Journal of Veterinary Diagnostic Investigation” In this study, exotic lice were found to be widespread among mule deer in California, with younger age classes and low blood selenium concentrations being significantly associated with infestation.
December 2024 in “International Journal of Drug Delivery Technology” This study reports that a novel Nano-Structured Lipid Carrier system for delivering dutasteride may enhance its anticancer effects while reducing systemic side effects in clinical settings.
November 2010 in “International Journal of Developmental Neuroscience”
2 citations
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May 2012 in “Indian drugs” This study found that a proniosomal gel formulation of finasteride increased anagen hair count in male volunteers with androgenic alopecia by 42.85% compared to the control group.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
August 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 15 citations
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October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
April 2017 in “Journal of Investigative Dermatology” This study observed that using a 1064 nm Nd: YAG laser may stabilize hair loss and promote new growth in some females with frontal fibrosing alopecia, though individual results varied.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
21 citations
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December 2016 in “European journal of pharmaceutics and biopharmaceutics” This study found that nano-sized lipid particles improved the skin accumulation and retention of dexamethasone compared to a base cream, suggesting potential benefits for inflammatory skin disease treatment.
1 citations
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October 2021 in “Clinical, Cosmetic and Investigational Dermatology” In this study on cultured human dermal papilla cells, researchers found that niacinamide may enhance hair growth by reducing oxidative stress-induced cell senescence and delaying catagen entry, suggesting potential applications against hair loss.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
5 citations
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January 2024 in “Crystals” This study characterized the crystal structures and supramolecular architectures of new salts made from 2,4-diaminopyrimidine and different dicarboxylic acids, revealing subtle differences in crystal packing and hydrogen-bonding patterns, particularly influenced by sulfur atom interactions, through Hirshfeld analysis and enrichment ratios.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” In this study, researchers found that oar-miR-377 regulates secondary hair follicle development in sheep by downregulating the SLC24A2 gene, and a specific SNP in oar-miR-377 is significantly associated with wool fiber diameter variation in Chinese Merino sheep.
2 citations
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June 2018 in “Physiology & behavior” The study found that ondansetron decreased alcohol consumption only in adult rats that experienced altered neuroactive steroid levels from early post-natal finasteride exposure, suggesting increased 5HT3 receptor sensitivity in these rats.