1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
17 citations
,
May 2016 in “Archives of Dermatological Research” This study identified specific reflectance confocal microscopy features that help differentiate scarring from non-scarring alopecia, providing a non-invasive diagnostic tool.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
January 2026 in “Pattern Recognition” This study found that their newly developed ADRL framework significantly improved the accuracy of scalp tissue layer segmentation in HR-MR images compared to existing methods.
This study found that a cell therapy product, RCS-01, was well tolerated in aged skin and led to significant increases in gene expression related to extracellular matrix homeostasis, although the small cohort size limited further efficacy analysis.
June 2016 in “Annals of the Rheumatic Diseases” This study found that glucocorticoid use in rheumatoid arthritis patients is associated with dose-dependent risk of Cushingoid habitus, easy bruising, skin atrophy, and impaired wound healing, while other skin adverse effects are rare at lower doses.
127 citations
,
July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
11 citations
,
August 2014 in “PLoS ONE” This study found that GFRα2 influences cell size but not survival or target innervation of Ret-positive low-threshold mechanoreceptors in mouse dorsal root ganglia, differing from its role in nonpeptidergic nociceptors.
40 citations
,
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.
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.
September 2023 in “Plant journal” This study showed that the zinc finger protein GIS3 is important for root hair growth in Arabidopsis by regulating RHD2 and RHD4 genes, with application of ethylene and cytokinin helping restore root hair presence in mutated variants.
This study found that administering gingerol improved survival and reduced organ damage in mouse models of chronic graft-versus-host disease by modulating T cell differentiation and inflammatory cytokines, suggesting a novel therapeutic approach for steroid-refractory cases.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents the design of an autonomous bioregeneration chamber that aims to extend human lifespan to 130-150 years by optimizing biological and environmental conditions, suggesting that a longer healthspan is possible through technological, nutritional, and socio-economic interventions.
April 2026 in “Diagnostics” In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.
9 citations
,
January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” In this study, researchers found that the transcriptional program regulated by PRC2 is not necessary for maintaining hair follicle stem cell quiescence and hair regeneration in vivo.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
July 2016 in “Hair transplant forum international” This article discusses participation in the Brazilian Association of Hair Restoration Surgery's workshop on hair transplantation but does not present any new research findings.
20 citations
,
April 2011 in “British Journal of Dermatology” Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
December 2022 in “Research Square (Research Square)” In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.
22 citations
,
August 2015 in “Cochrane Database of Systematic Reviews” The study aims to find the best treatment for central serous chorioretinopathy by comparing various options.
1 citations
,
January 2023 in “Journal of Drugs in Dermatology” This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.
10 citations
,
August 1998 in “Journal of Investigative Dermatology”
341 citations
,
November 2009 in “The FASEB Journal” This article reviews the multifunctional roles of calreticulin outside the ER and highlights its impact on wound healing in animal models, but reports no new clinical results.