402 citations
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August 2011 in “Cancer research” This study found that castration-resistant prostate cancers resistant to CYP17A1 inhibitors may still depend on steroids and could respond to therapies targeting de novo intratumoral steroid synthesis.
This article discusses vaccination coverage for BCG, Polio, and Hepatitis B in Juiz de Fora using SUS data and reports no new results; the authors aim to hypothesize reasons for coverage variation.
1 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 60 mg/day of Cepharanthine significantly reduced the time to a negative COVID-19 test among de novo infected patients with good compliance, though 120 mg/day showed no such effect.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair-type tissues in hedgehogs show higher enrichment of immune-related genes compared to spine-type tissues, suggesting that spines evolved to protect against injuries and infections.
2 citations
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August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
This study introduced ElixirSeeker2, a computational framework for designing anti-aging peptides, and found that some newly identified peptides significantly delayed cellular senescence and enhanced cellular and locomotor functions in aged Caenorhabditis elegans.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that transplantation and in vivo reprogramming using specific reprogrammed cell types can generate skin appendage-like structures in adult mice, suggesting potential therapeutic avenues for skin regeneration and disorders.
301 citations
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February 2019 in “Nature Communications” In this study, researchers found that wound healing in mouse skin recruits diverse fibroblasts, including myeloid-derived cells, which contribute to regenerating adipocytes.
8 citations
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July 2017 in “Biochemical and biophysical research communications” This study reported that the pseudoceramide bis-oleamido isopropyl alcohol (BOI) promotes hair growth in ex vivo cultured human hair follicles, likely by enhancing sphingolipid synthesis in dermal papilla cells.
January 2018 in “Online Publication Service of Würzburg University (Würzburg University)” This study found that donor age and culture medium significantly impact the quality of human full-thickness skin models, with implications for their use as animal model alternatives in research.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
3 citations
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December 2024 in “Stem Cell Reports” In this study, researchers observed that low levels of fucose-binding lectin staining characterize limbal epithelial progenitor cells, which maintain a high proliferative capacity and may be enhanced by inhibiting fucosylation, offering insights for regenerative therapy of the limbal stem cell niche.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
13 citations
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January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
32 citations
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November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
2 citations
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March 2013 in “Hair transplant forum international” This article discusses the concept of hair cloning through cultured follicular cell implantation but provides no new experimental results; it highlights ongoing interest among hair restoration professionals and the public.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
August 2018 in “Journal of The American Academy of Dermatology” A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
20 citations
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June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
40 citations
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June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
1 citations
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May 2025 in “Animal Bioscience” This study explored the spatial variation of THFD in cashmere goats and identified four genes associated with it, offering insights that could aid in the development of THFD genes for these animals.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
29 citations
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February 2018 in “Genetics research international” This review summarizes the influence of gene polymorphisms on genetic predisposition to polycystic ovary syndrome, but reports no new experimental or clinical results.