In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
June 2025 in “British Journal of Dermatology” This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.
December 2024 in “Frontiers in Veterinary Science” This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
January 2022 in “Cellular and Molecular Biology” This study found that adding Triamcinolone to the local anesthetic solution and administering PRP sessions significantly improved hair transplantation outcomes, with gene expression indicating SRD5A2's role in transplant success.
December 2021 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Men can have genetic risks for PCOS-related traits like obesity and diabetes.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.
This genome-wide association study of over 70,000 men identified 71 genetic loci linked to male pattern baldness, highlighting pathways that could help explain its underlying biology.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
November 2005 in “Hair transplant forum international” This paper discusses how studying hair follicles in the balding scalp could reveal fundamental biological processes, without reporting new experimental findings.
10 citations
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August 2022 in “Bulletin of Mathematical Biology” This study demonstrated that the Turing bifurcation, typically a pitchfork bifurcation under zero-flux conditions, becomes transcritical under fixed boundary conditions, highlighting the importance of considering boundary condition variations in morphogenetic analyses.
1 citations
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January 2025 in “JEADV Clinical Practice” This study reported that the AAPPO tool effectively distinguishes between patients with alopecia areata based on scalp hair loss severity, whereas the EQ‐5D‐5L may underestimate the specific disease burden, particularly in psychological and social aspects.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
8 citations
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November 2018 in “Australasian Journal of Dermatology” This study adds evidence suggesting a genetic component to frontal fibrosing alopecia, with daughters experiencing an earlier onset than their mothers, although the clinical pattern remains similar to non-familial cases.
7 citations
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March 2024 in “Skin Research and Technology” This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
2 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reported the first paleogenomic data from Korea, revealing genetic diversity in ancient Koreans from the Gimhae region, with evidence of admixture between northern-Chinese Iron Age populations and Japanese-Jomon-related ancestry.
2 citations
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October 2021 in “Skin health and disease” This study found no significant epidemiological or genetic association between androgenetic alopecia and severe COVID-19 in a British cohort, but suggests shared genetic pathways may exist.
2 citations
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January 2014 in “Journal of the American Academy of Dermatology” This study found significant hair regrowth in male pattern baldness using 2% and 3% topical minoxidil solutions compared to placebo over a 4-month period.
June 2026 in “Frontiers in Cell and Developmental Biology” In this study, researchers used single-cell RNA sequencing to map the hair follicle microenvironment in fine-wool sheep, identifying specific cell types and gene expressions that influence wool fiber diameter, with dermal papilla cells playing a significant role in hair follicle development.
February 2026 in “International Journal of Molecular Sciences” In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.
November 2025 in “npj Breast Cancer” In this study of women with breast cancer undergoing chemotherapy and scalp cooling, 12% experienced incomplete hair regrowth at 6 months, with tamoxifen therapy identified as a significant risk factor for persistent chemotherapy-induced alopecia.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.