11 citations
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November 2015 in “Experimental Dermatology” This study reported that IL-6/STAT3 signaling influences p63 isoform expression in keratinocytes and is involved in wound-induced hair follicle neogenesis, highlighting the interplay between immune and developmental pathways.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
9 citations
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November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
In this study, Paljeong-san pharmacopuncture reduced dihydrotestosterone levels and inhibited prostate tissue proliferation in a rat model of benign prostatic hyperplasia.
April 2016 in “The Journal of Sexual Medicine” This study analyzed 3,295 cases from the FDA Adverse Event Reporting System to describe demographics and reporting trends of post-finasteride syndrome, finding that most reports came from patients rather than health professionals.
128 citations
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December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.
26 citations
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September 2001 in “Journal of Investigative Dermatology” This study found that the serine protease BSSP is strongly expressed in mouse skin during carcinogenesis and is upregulated independently of c-Fos and unaffected by glucocorticoids.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
451 citations
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March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that HPV8-induced actinic keratoses may mechanistically involve Lrig1+ hair follicle keratinocyte stem cells, with the E6 gene promoting downstream STAT3 activity in a mouse model.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
April 2010 in “Cancer Research” In this study, Stat3 activation in transgenic mice led to a decrease in stem cells in the hair follicle bulge, suggesting its crucial role in epidermal growth and stem cell maintenance.
November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” In this study, the pi4kβ1β2 double mutant in Arabidopsis thaliana exhibited altered root growth, increased susceptibility to Blumeria graminis, and a potential correlation between PI4K activity and auxin response and immunity due to changes in vesicular trafficking and actin filaments.
This study found that STAT5 activation and Sox18 are key in regulating hair follicle induction and cycling, while transducing SKPs with active STAT5B improved wound healing by reducing inflammation.
11 citations
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July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
10 citations
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October 2014 in “Journal of Ovarian Research” This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.
January 2022 in “Skin Pharmacology and Physiology” This study demonstrated higher STAT3 gene expression in scalp tissue affected by androgenetic alopecia, but found no significant link with hair loss severity.
January 2006 in “Actas Urológicas Españolas” This retrospective study observed no significant difference in the prevalence of incidental prostate cancer between suprapubic prostatectomy and transurethral prostate resection groups, with most tumors being well differentiated and early-stage.
This study found that patients with psoriasis had a significantly higher prevalence of autoimmune diseases and other comorbidities compared to individuals without psoriasis.
1 citations
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April 2008 in “Progrès en Urologie” Systematic end-of-trial biopsies are the most reliable way to assess outcomes.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.
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.