49 citations
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January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
37 citations
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January 2022 in “Frontiers in Genetics” This study found that dermal sheath stem cell characteristics are lost with aging in humans, affecting skin rejuvenation and structure, and identified specific proteins like Activin A influencing keratinocyte and fibroblast activity.
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
28 citations
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April 2014 in “Hormones” This study found that increased serum A4A levels were associated with more severe polycystic ovary syndrome phenotypes and could be a useful marker for biochemical hyperandrogenemia.
4 citations
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February 2025 in “GeroScience” This study found that restoring hypothalamic NPY levels in mice delayed aging-related characteristics such as fat loss, hair loss, and memory decline, suggesting that maintaining these levels could be important for counteracting aging and its effects.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
1 citations
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August 2013 in “The Journal of Cell Biology” This study found that Wnt secretion is important for skin homeostasis in mice, as Evi-deficient mice developed skin lesions resembling psoriasis and showed immune cell imbalance.
In this study, researchers observed that atopic dermatitis may alter the appearance of allergic patch test reactions, demonstrating specific patterns like perifollicular erythema and yellowish areas that could aid in interpreting patch tests using dermoscopy, particularly in ambiguous cases.
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.
This study identified that manifestations of Long COVID can be detected through routine symptoms and diagnoses in electronic health records following COVID-19 admissions, as compared to non-COVID hospitalizations.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that women with PCOS had a higher prevalence of hypothyroidism compared to those without PCOS, especially among the obese PCOS subgroup.
July 2017 in “Biology bulletin/Biology bulletin of the Russian Academy of Sciences” This study found that cultivating dermal papilla cells in spheroids or with valproic acid most effectively preserves their phenotype in vitro, compared to a monolayer culture with BMP6 and vitamin D3, which only produces a short-term effect.
66 citations
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April 1989 in “Alcoholism Clinical and Experimental Research” This study found that the ethanol patch test effectively indicates the ALDH phenotype in healthy Japanese individuals, suggesting its usefulness for future research.
55 citations
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April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
54 citations
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May 2015 in “Endocrinology” In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.
31 citations
,
December 1991 in “Annals of the New York Academy of Sciences” This study found that distinct keratin profiles enabled the evaluation of epithelial differentiation in human hair follicles, with mesenchymal cells playing a critical role in epidermoid differentiation of follicular cells.
25 citations
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September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.
14 citations
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October 2016 in “Physiological Research” In this study, vitamin D supplementation showed no significant effect on androgen levels or clinical hyperandrogenism in PCOS women, but when combined with metformin, it improved testosterone levels.
14 citations
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August 2015 in “Endocrinology” This study describes the development of a monoclonal antibody, 005-C04, which blocks PRLR-mediated signaling, suggesting its potential for furthering understanding of PRLR's role in health and disease.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” This study found that Greek women with classic PCOS phenotypes have a higher risk of metabolic syndrome and impaired glucose homeostasis compared to those with newer PCOS phenotypes.
8 citations
,
January 2011 in “Experimental and Therapeutic Medicine” This review summarizes the characteristics of the peri-malignant melanoma stroma, indicating its potential role in early dermal metastatic migration and increased metastasis risk.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
2 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.
This study investigated the effects of pathological α-synuclein on sebaceous gland cells in Parkinson's disease, finding that α-synuclein exposure altered cellular differentiation and lipid production, suggesting a potential link between α-synuclein and lipid dysregulation in the skin of PD patients.
April 2026 in “Biomedical Research and Therapy” This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.
May 2025 in “Experimental Dermatology” This study found that specific TRPM5 modulators are unlikely to directly affect sebaceous glands, but safe TPPO analogues may provide moderate lipogenic and anti-inflammatory effects beneficial for dry skin conditions.
March 2025 in “Experimental Dermatology” This study found that transgenic mice overexpressing IKZF1 developed lesions similar to alopecia areata, suggesting that Ikaros may play a role in the disease's pathogenesis. Ikaros expression was also higher in human alopecia areata patients compared to controls.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
This study identified new geometric and mechanical parameters for curly and kinky/coily hair, which may inform more effective personal care products tailored to these hair types.