16 citations
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February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
9 citations
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May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
14 citations
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July 2021 in “Bioinformatics” This study demonstrates the use of rPanglaoDB, an R package for combining public single-cell datasets, to create the first unbiased transcriptome profile of fibrocytes, revealing their role in tissue healing.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
23 citations
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January 1996 in “Software Engineering and Knowledge Engineering” This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
October 2022 in “Hair Transplantation” This article discusses the temporary scalp trichopigmentation procedure, detailing its unique approach compared to traditional scalp micropigmentation, and reports no new clinical findings.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
15 citations
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July 2020 in “Applied Sciences” This study found that a single injection of Platelet Rich Stroma improved knee function and reduced pain and stiffness in patients with knee osteoarthritis over twelve months.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
July 2024 in “New Phytologist” This study suggests that the transcription factor PDF2 in Arabidopsis may link lipid sensing with growth responses to phosphate starvation by acting as a sensor for lyso-PCs through its START domain.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
March 2023 in “The Journal of Urology” This study found that higher baseline expression of SRD5A2 in prostate tissue was associated with a better response to finasteride in men with benign prostatic hyperplasia.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study investigated genetic and epigenetic markers for prostate cancer, reporting that certain genotype combinations may influence cancer risk or protection and identifying GSTP1 promoter methylation as a strong prognostic and diagnostic marker linked to tumor aggressiveness.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
December 2023 in “Medical Times” In this study, combining stromal cells and PRP resulted in a significantly higher cell count and volume than using a saline group, suggesting increased potential efficiency; however, clinical outcomes need further evaluation.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
January 2016 in “프로그램북(구 초록집)” This study found that the revised BASP classification for pattern hair loss, which addresses certain limitations of the original, could serve as an alternative option despite a decrease in clinical accuracy and ease of use.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
61 citations
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December 2001 in “Journal of Investigative Dermatology” This study found that steroid sulfatase in the dermal papilla of hair follicles metabolizes dehydroepiandrosterone sulfate to support the development of androgenetic alopecia, suggesting potential for steroid sulfatase inhibitors as treatments.
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.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
1 citations
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October 2022 in “International journal of endocrinology” This study found that dihydrotestosterone treatment in female rats altered anterior pituitary gland gene expression, with significant repression of prolactin and inhibition of GnRH receptor gene expression, suggesting specific hormone production changes.
1 citations
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May 2024 in “Human Genomics” Among a Han Chinese cohort, this study found that a higher genetic risk score was linked to increased susceptibility to BPH, larger prostate size, reduced effectiveness of 5ARI treatment, and a higher risk of undergoing TURP.
8 citations
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July 2018 in “Analytical sciences” This study reported that derivatization with 5-butylpicolinic acid improved the sensitivity for detecting testosterone and DHT in saliva using LC-ESI-MS/MS, with minimal interference from the saliva matrix.
June 2025 in “Proceedings of the National Academy of Sciences” In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
22 citations
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January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
15 citations
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June 2011 in “Journal of Investigative Dermatology” This study found that overexpressing the 14-3-3σ protein in transgenic mice reduced keratinocyte proliferation and migration, leading to thinner epidermis and fewer hair follicles due to IGF-1 pathway inhibition.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.