1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
June 2023 in “Research Square (Research Square)” This study found that among male Han Chinese, a higher polygenic risk score was linked to increased risk and poorer treatment outcomes for benign prostatic hyperplasia.
28 citations
,
May 2018 in “Scientific reports” This study found that exercise decreases the expression of 5αR1, thereby enhancing the PI3K/AKT signaling pathway in PCOS rats.
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.
April 2024 in “The Journal of urology/The journal of urology” This study observed that although 5-alpha-reductase inhibitors reduce PSA density in patients on active surveillance for prostate cancer, those who progress to more serious disease still show higher PSA densities, suggesting these inhibitors accentuate differences in clinically significant cases.
57 citations
,
February 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study found that pubic skin fibroblasts respond to androgens, increasing 5α-reductase activity via an androgen receptor-mediated mechanism, suggesting its potential as a marker of androgen action in vitro.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
3 citations
,
October 2024 in “Frontiers in Pharmacology” This laboratory study found that PI extract, along with its metabolites Ang and Mac, inhibited cell proliferation and protein expression linked to pathways involved in BPH, suggesting potential for therapeutic use, although the Ang-Mac combination showed no significant effect on apoptosis through the p53 pathway.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
10 citations
,
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.
December 2025 in “Rapid Communications in Mass Spectrometry” This study found that pepsin digestion was more effective than trypsin at identifying keratin-associated proteins in human hair shafts and confirmed that trypsin introduced a bias in the analysis of protein composition that pepsin can correct.
7 citations
,
January 2024 in “Cancer Research Communications” This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.
January 2024 in “Wiadomości Lekarskie” In this study, researchers developed a novel computational framework using deep reinforcement learning to identify strategies for cellular reprogramming in gene regulatory networks, showing its effectiveness in a model of immune response against infection.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
6 citations
,
April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
2 citations
,
January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
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.
4 citations
,
January 2024 in “Allergy” This study indicates that individuals exposed to PPD mount varying immune responses, with either tolerance, subclinical inflammation, or allergy, suggesting no true non-responders to PPD.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
July 1995 in “Journal of Dermatological Science” December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that serine 44 in the N-terminal head domain of keratin 17 is phosphorylated in response to various stimuli affecting skin keratinocyte growth, linking K17 up-regulation with growth and stress responses in skin epithelium.
This study identified 193 plasma proteins associated with prostate cancer risk, validating 20 high-risk proteins including KLK3, and pinpointed potential drug targets like HSPB1, RRM2B, and PSCA through genetic analysis, offering new insights for biomarkers and treatments.
September 2023 in “Journal of the American Academy of Dermatology” This study suggests that using the International Psoriasis Council's classification, which includes body surface area, special areas, and treatment history, may identify more candidates for systemic therapy than by body surface area alone.
11 citations
,
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.
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.
64 citations
,
July 2016 in “Cold Spring Harbor Perspectives in Medicine” The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.