July 2020 in “RePub (Erasmus University, Rotterdam)” This thesis analyzed four skin aging features and their relationships with lifestyle, physiological factors, and genetics.
March 2009 in “The Journal of Urology” This study found that some cancer cells exhibit neuronal-like characteristics, which may serve as a mechanism of resistance.
July 2011 in “British Journal of Dermatology” Hormone treatment caused hair loss, finasteride helped regrowth.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
41 citations
,
July 1994 in “Journal of Dermatological Science” This review examines the differentiation potential of epithelial cells from various sources in hair follicle formation, concluding that complex interactions are required for hair-specific characteristics, which were achieved in vivo but not in vitro.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
11 citations
,
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.
5 citations
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April 2018 in “Journal of Dermatological Science” This study found that the E2-ANGPT2 pathway is involved in hair follicle regulation and that ANGPT2 treatment increased hair density in modeled female pattern hair loss, suggesting potential therapeutic use.
This study found that enhancing quercetin bioavailability with EubioQuercetin significantly improved external aging signs in mice and influenced gut microbiota and intestinal gene expression, suggesting potential modulation through the gut microbiota–intestinal barrier axis.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
May 2026 in “International Journal of Dermatology” This study investigated a unique frontal fibrosing alopecia-like presentation of alopecia areata, finding that patients experienced an insidious, chronic course with limited scalp hair regrowth, and showed a lower response to systemic corticosteroids compared to patchy alopecia areata.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
September 2022 in “Frontiers in Immunology” This study reports that comorbidities and anti-androgen therapy were associated with lower SARS-CoV-2 vaccination rates among patients with androgenetic alopecia, emphasizing the need to promote vaccination within this group.
21 citations
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November 2015 in “Phytomedicine” This study found that glycyrrhizic acid significantly reduced stem cell characteristics of dermal papilla cells by down-regulating key signaling pathways, suggesting potential use in suppressing unwanted hair growth.
1 citations
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December 2017 in “International Journal of Public Health Science (IJPHS)” This study found no significant difference in obesity rates across various phenotypes of PCOS in high-school girls, but highlights the future health risks associated with hyperandrogenism.
145 citations
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March 2010 in “Fertility and Sterility” This study reported that ovulatory PCOS is a milder form of the condition compared to classic PCOS phenotypes, which share similar clinical and hormone characteristics.
85 citations
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June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
42 citations
,
September 2012 in “PLoS ONE” In this study, bezafibrate treatment improved certain aging-like features in a mouse model with mitochondrial dysfunction, but did not enhance muscle function or lifespan.
42 citations
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September 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study found that women with PCOS who have an exaggerated 17-hydroxyprogesterone response to buserelin exhibit more severe hyperandrogenemia, increased insulin secretion, and reduced insulin sensitivity.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
7 citations
,
October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.
3 citations
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April 2021 in “Cureus” In this study, 62.7% of patients with alopecia areata had deficient vitamin D levels, yet there was no significant link between these levels and specific alopecia areata patterns.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
In this study of women in Swabi, 26.04% were diagnosed with Polycystic Ovary Syndrome, with Hyperandrogenism and phenotype A being the most common presentations.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
January 2016 in “Journal of SAFOG” This study observed that androgenic hormone levels were higher in high school girls with PCOS phenotypes accompanied by menstrual disorders, particularly oligomenorrhea.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
62 citations
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November 2009 in “Aging Cell” Hedgehog signaling helps keep hair follicle stem cells the same in both young and old human skin.