28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that prostasin's proteolytic activity is necessary for normal hair follicle development in mice, but not for interfollicular epidermal development.
This research developed a pig graph pangenome assembly of 27 genomes, revealing the importance of structural variations in adaptation and breed-specific traits, with BTF3 identified as a key gene influencing intramuscular fat and meat quality.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
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.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
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.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study examines how conditions like PSSD, Long COVID, and ME/CFS form a "Post-Exposure Syndromes" family, initiated by transient exposures but persisting due to complex state-space dynamics, and suggests improving pharmacovigilance to better address and understand these persistent syndromes.
April 2012 in “The Journal of Urology” This study modeled how differences in trial settings and protocols, such as biopsy compliance and control arm screening, can explain the varying prostate cancer mortality reductions observed in the ERSPC and PLCO trials.
324 citations
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May 2002 in “Oncogene” 101 citations
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October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
43 citations
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February 1999 in “Biochemical Journal” This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.
32 citations
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April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
8 citations
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January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
14 citations
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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.
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.
16 citations
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January 2016 in “Journal of Investigative Dermatology” This study found that IL-6 knockout mice exhibited increased wound-induced hair neogenesis compared to wild-type mice, likely due to enhanced STAT3 activation facilitated by compensatory cytokine activity.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that cPPARγ and dnPPARγ isoforms are differentially expressed in healthy human skin, suggesting that PPARγ modulators may have compartment-specific effects depending on isoform presence.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
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.
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.
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.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
1 citations
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May 2015 in “Experimental Dermatology” This study found that constitutive activation of Stat3 in transgenic mice led to impaired hair growth and structural disorganization due to aberrant regulation of hair follicle and cytoskeletal genes.
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.
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.
In this study, Paljeong-san pharmacopuncture reduced dihydrotestosterone levels and inhibited prostate tissue proliferation in a rat model of benign prostatic hyperplasia.
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.
May 2011 in “Value in Health” This study found that the oral Janus kinase inhibitor CP-690,550 has a direct effect on reducing pruritus in patients with psoriasis, independent of clinician-assessed improvements in psoriasis severity.