March 2020 in “UTUPub (University of Turku)” This study found that self-reported androgen-driven phenotypes, like balding and finger length ratios, were not associated with cancer aggressiveness or biochemical recurrence in prostate cancer after prostatectomy.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
6 citations
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November 2022 in “Forensic Science Medicine and Pathology” This study demonstrated that genetic markers can predict human ear morphology with moderate to good accuracy, potentially aiding forensic identification in crime scene investigations where traditional DNA matches are unavailable.
1 citations
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May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This meeting synopsis on the 66th Annual Montagna Symposium reports no new results but outlines discussions on precision dermatology, integrating molecular insights with clinical applications for personalized skin care.
August 2026 in “Bogucki Wydawnictwo Naukowe eBooks” This study highlighted that advancements in genome-wide association studies have identified numerous DNA variants linked to human appearance traits, significantly enhancing our understanding of the genetic and epigenetic factors influencing human phenotypes and contributing to genomic tools for anthropology and forensics.
This study found that innate lymphoid cells-type 1 (ILC1) can induce alopecia areata by disrupting hair follicle immune privilege without the involvement of classical CD8+ T cells.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
288 citations
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January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
175 citations
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September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
109 citations
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June 2000 in “Development” This study reports that activating Notch signaling in the hair follicle cortex of transgenic mice caused abnormal differentiation of the medulla and cuticle, highlighting potential cell-cell interactions.
70 citations
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July 2016 in “Aging” This study suggests that dermal adipocytes might play a key role in skin aging due to their transformation into fibrotic structures in chronically photo-damaged skin.
59 citations
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August 2007 in “Clinical Endocrinology” This review discusses the diagnostic criteria for polycystic ovary syndrome and reports no new results; the authors propose more robust criteria to address diagnostic variability and measurement uncertainty.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
43 citations
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September 2014 in “Molecular Plant” This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.
39 citations
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September 2007 in “BMC developmental biology” This study found that Neuregulin3 can influence the development and differentiation of mammary glands and epidermal features in mice, potentially by inducing c-Myc and altering cell proliferation and adhesion.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.
17 citations
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May 2022 in “Frontiers in Immunology” This review explores recent advances in inflammation resolution and considers how macrophage reprogramming might help address severe COVID-19 outcomes, particularly those involving cytokine storms, but it reports no new experimental results.
16 citations
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February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
11 citations
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March 2024 in “Cell and Tissue Research” In this review, researchers summarize the methods for characterizing telocytes, outline their physiological roles and implications in diseases, and discuss potential future studies including precise markers and targeted therapies.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
3 citations
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September 2024 in “Journal of the American Academy of Dermatology” Dermatology datasets need more diversity in skin tones and ethnic representation.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that CD200-negative human hair follicle bulge cells have a higher hair-regenerative capability compared to CD200-positive cells, suggesting that reduced CD200 expression may enhance hair regeneration, providing insights for improving bulge cell-based hair restoration techniques.
March 2026 in “Journal of Biomedical Materials Research Part B Applied Biomaterials” This study found that a chitosan, chondroitin sulfate, and hyaluronic acid scaffold improved wound healing in rats by promoting immune-stromal interactions, reducing inflammation, and supporting tissue regeneration with ~91% wound closure by day 17 compared to ~63% in controls.
March 2026 in “Pigment Cell & Melanoma Research” At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.
In this case study, a patient developed a rash consistent with acute generalized exanthematous pustulosis after increasing the dose of semaglutide, suggesting that the reaction was likely due to the excipient propylene glycol, highlighting the importance of ingredient analysis and multidisciplinary collaboration for patient safety.