October 2021 in “Journal of Investigative Dermatology” In this study, the researchers found that scalp hair follicles affected by female pattern hair loss are poorly vascularized, likely affecting nutrient delivery, but capable of nutrient uptake when supplemented.
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.
January 2023 in “International journal of medical science and health research” This study found that anovulatory PCOS patients were younger, had longer menstrual cycles, and higher systolic blood pressures compared to ovulatory patients.
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.
January 2012 in “The Journal of Qazvin University of Medical Sciences” This study examined the prevalence of polycystic ovary syndrome phenotypes among adolescent females in Shiraz, finding a notable presence of different symptoms and emphasizing the need for early detection.
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.
286 citations
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January 2009 in “Human Reproduction Update” This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.
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.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
53 citations
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September 2014 in “Reproductive Biology and Endocrinology” This study observed that among women with polycystic ovary syndrome, those with the most severe phenotype showed the highest levels of metabolic disturbances, indicating the need for metabolic screening in these cases.
51 citations
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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
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December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
17 citations
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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.
13 citations
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December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
13 citations
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March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
5 citations
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October 2022 in “Frontiers in Genetics” This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.
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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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.
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.
This research found significant associations between gut microbiome composition and 14 out of 37 examined health conditions, suggesting that increased microbial abundance often aligns with favorable health states.
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.
January 2025 in “Diagnostics” In this prospective case-control study, researchers found that women with any phenotype of polycystic ovary syndrome exhibited increased retinal nerve fiber layer and choroidal thickness compared to healthy controls, with changes correlated to body mass index.
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.
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.
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.
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.
May 2026 in “Frontiers in Medicine” This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” This study found that brothers of women with PCOS exhibit elevated DHEAS levels, indicating a potential familial genetic trait, but did not show increased rates of premature balding.
4 citations
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June 2024 in “Animals” This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.