66 citations
,
January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
28 citations
,
February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
69 citations
,
January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
4 citations
,
May 2020 in “PLOS ONE” This study found that ingenol mebutate treatment led to gene expression changes in actinic keratoses, with complete lesion clearance in 40% of patients and identified genetic markers potentially predicting treatment response.
28 citations
,
December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that prostasin's proteolytic activity is necessary for normal hair follicle development in mice, but not for interfollicular epidermal development.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
2 citations
,
October 2021 in “JID innovations” This study found no significant gene expression differences in the lesional scalp of patients with central centrifugal cicatricial alopecia with and without a history of uterine leiomyomas.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
417 citations
,
September 2005 in “PLoS biology” This study developed molecular signatures for dermal papilla cells and their niche, uncovering novel signaling regulators and genes linked to hair disorders, which may inform future hair development research.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
13 citations
,
March 2017 in “Genomics” This study reported that pathways related to apoptosis, cell proliferation, and WNT signaling might be key drivers of hair loss in androgenetic alopecia, guiding potential targets for therapy development.
9 citations
,
January 2023 in “Journal of the European Academy of Dermatology and Venereology” This study suggests that genetic overlap between alopecia areata and major depressive disorder may be limited to the MHC region, highlighting the need for further research.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
9 citations
,
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.
June 2024 in “The American journal of psychiatry” In this study by Sawada et al., the researchers developed a human striatal model using stem cells and postmortem samples, revealing accelerated neuronal maturation and specific gene expression changes linked to schizophrenia risk, which may inform future research on the disorder's developmental roots.
7 citations
,
December 2020 in “Clinics in Dermatology” This article reviews the use of various treatments for alopecia and their potential impact on COVID-19 outcomes, emphasizing the importance of patient registries in generating real-world evidence; it reports no new results.
This study identified 193 plasma proteins associated with prostate cancer risk, validating 20 high-risk proteins including KLK3, and pinpointed potential drug targets like HSPB1, RRM2B, and PSCA through genetic analysis, offering new insights for biomarkers and treatments.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
6 citations
,
January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
42 citations
,
June 2020 in “Seminars in Oncology” This article reviews sex disparities in COVID-19 outcomes and explores the influence of sex hormones on disease severity, but it reports no new results; further studies are ongoing.
67 citations
,
August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
19 citations
,
March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
6 citations
,
May 2022 in “Aging” This study found that Si Jun Zi Tang may have anti-aging effects in mice, linked to inhibition of the PI3K-AKT and P38 MAPK signaling pathways.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
5 citations
,
March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
710 citations
,
May 2023 in “European Urology” This study highlights that improved diagnostic techniques for prostate cancer could decrease the number of men needing diagnosis and treatment to save one life and identifies avoidable risk factors, such as smoking, diet, and occupation, that may influence prostate cancer risk.