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.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
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.
1 citations
,
August 2016 in “Journal of Investigative Dermatology” This research reported that STAT5 activation in the dermal papilla plays a crucial role in triggering anagen entry during post-developmental hair follicle cycling.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
47 citations
,
April 2012 in “The Plant Journal” This study found that mutations in phosphorylation sites on the PIN3 protein disrupt its phosphorylation and subcellular trafficking, affecting auxin transport and root growth in a cell-type-specific manner.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
159 citations
,
November 2007 in “American Journal of Pathology” In this study, researchers found that substance P triggered premature catagen development and immune changes in human scalp hair follicles, providing a possible biological link between stress and hair loss conditions like telogen effluvium and alopecia areata.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study indicates that MPZL3 negatively regulates sebaceous gland size in mice by controlling sebocyte proliferation, with implications for disorders like acne and psoriasis.
148 citations
,
April 2009 in “Molecular Pharmaceutics” This study reports that three synthesized PSMA-targeted radioimaging agents demonstrated high affinity and specific localization to prostate cancer tumors in a mouse model, highlighting their potential for cancer detection and monitoring.
11 citations
,
June 2020 in “Biomedicines” This study concluded that incorporating the percentage of free PSA and urinary markers improves the accuracy of determining the need for prostate biopsy.
April 2020 in “Journal of the Endocrine Society” This case report highlights the importance of considering pituitary stalk interruption syndrome as a potential diagnosis for patients with short stature, as early detection may allow those affected to achieve normal height.
3 citations
,
April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
61 citations
,
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.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
118 citations
,
June 1993 in “Journal of Biological Chemistry” This study found that mouse and human protransglutaminase 3 enzymes require calcium-regulated activation for their role in later stages of cell envelope formation in the epidermis and hair follicle.
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.
April 2019 in “Journal of the Endocrine Society” This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.
14 citations
,
February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
22 citations
,
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.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
124 citations
,
July 1997 in “Journal of Biological Chemistry” This study found that overexpression of an enzyme in transgenic mice led to distorted polyamine levels, resulting in permanent hair loss and female infertility.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.
December 2004 in “Annales d Urologie” This article examines the PCPT study on whether daily finasteride can reduce prostate cancer incidence, describing its methodology and findings but reporting no new clinical results.
30 citations
,
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.
This study found that P144 (Disitertide) significantly reduced collagen deposition and improved muscle organization in a rabbit model of post-radiotherapy fibrosis, suggesting potential antifibrotic effects.