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.
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.
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.
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.
166 citations
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September 2011 in “The Journal of Cell Biology” This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
3 citations
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May 2025 in “Cell Death and Disease” This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
17 citations
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November 2001 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that Stat3 removal in keratinocytes of mice impairs healing and disrupts the normal hair cycle, leading to skin ulcers and hair loss as they age.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
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.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
62 citations
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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.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
11 citations
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February 2018 in “Oncotarget” This study observed that reduced activation of SMAD2/3 proteins in cutaneous squamous cell carcinoma tissue compared to adjacent tissue may indicate a tumor suppressor role in disease progression.
February 2026 in “Advanced Science” This study found that targeting the p300/androgen receptor axis effectively reduced AR activation and ovarian fibrosis in mouse models of polycystic ovary syndrome, suggesting a potential therapeutic approach.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
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.
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.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
April 2023 in “Journal of Investigative Dermatology” This study found that MPZL3 plays a crucial role in controlling sebaceous gland size and sebocyte proliferation in mice and humans, implicating its potential involvement in skin disorders like acne and psoriasis.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
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.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
54 citations
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May 1994 in “Veterinary Pathology” This study found widespread localization of parathyroid hormone-related protein in normal and cancerous canine tissues, suggesting a potential physiological role as a paracrine or autocrine factor.