This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
December 2024 in “Animals” In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.
9 citations
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July 2022 in “Cell reports” This study found that Sox2 within dermal papilla cells in the hair follicle regulates hair pigmentation, influencing the type and production of melanin.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
This invention reports piperazine derivatives as potent inhibitors of type 3 17β-hydroxysteroid dehydrogenase, suggesting potential therapeutic applications in treating prostate cancer, acne, and androgenic alopecia.
48 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that retinoic acid biosynthesis and signaling in hair follicles have a spatial and temporal regulation linked to distinct stages of the hair cycle in mice.
67 citations
,
September 2001 in “American Journal Of Pathology” This study found that overexpression of the enzyme ornithine decarboxylase in transgenic mice led to UVB-induced skin tumors, but this was prevented by the ODC inhibitor α-difluoromethylornithine.
20 citations
,
February 2016 in “American Journal of Pathology” This study indicates that the OVOL1-OVOL2 axis may play a significant role in hair follicle differentiation and growth, potentially serving as therapeutic targets for hair disorders like alopecia and in the tumorigenesis of pilomatricoma.
32 citations
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July 2003 in “Histochemistry and Cell Biology” 4 citations
,
November 2024 in “Current Opinion in Genetics & Development” 36 citations
,
February 1998 in “Journal of Anatomy” This study used fibre optic confocal imaging to visualize subsurface structures in live mouse skin, revealing cellular details and blood vessel networks that dynamic events could be studied in vivo.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
April 2014 in “Investigative Ophthalmology & Visual Science”
December 2024 in “Frontiers in Genetics” This review discusses the genetic causes and pathogenesis of Olmsted syndrome, emphasizing the potential for a genotype-phenotype correlation due to TRPV3 mutations, and explores avenues for individualized treatment developments for this condition.
34 citations
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May 2001 in “Endocrinology” This study found that MRP3 is induced in wound edge keratinocytes during wound healing and may play a role as a growth or angiogenesis factor in this process and the hair follicle cycle.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
19 citations
,
February 2016 in “Journal of Biological Chemistry” In this study, researchers observed that knocking out KCNQ3 in mice increased firing frequencies in response to stimuli, particularly at slow mechanical indentation velocities, indicating a role in mechanosensory neuron sensitivity.
15 citations
,
November 2020 in “Development” This study found that the ocular surface epithelium in mice contains distinct stem cell populations with unique cell division dynamics that change behaviorally in response to different levels of injury.
12 citations
,
December 2018 in “Clinical Ophthalmology” This review summarizes clinical trials and comparative studies showing that latanoprostene bunod 0.024% is effective and safe for reducing intraocular pressure in patients with open-angle glaucoma or ocular hypertension, detailing its mechanism and side effects while considering its therapeutic role.
19 citations
,
October 2022 in “The Ocular Surface” 124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
May 2026 in “Scientific Reports” In this study, researchers overexpressed Lrig3 in mouse skin and observed hair loss linked to changes in skin protein profiles and signaling pathways, suggesting a potential role for Lrig3 in maintaining skin homeostasis.
July 2025 in “PNAS Nexus” This study integrated single-cell RNA-seq data from four previous studies to create a comprehensive human corneal cell state meta-atlas, revealing novel marker genes, rare cell states, and distinct transcription factors, and offering a tool to enhance future cornea research.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
5 citations
,
May 2017 in “Journal of dermatological science” This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.
7 citations
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January 2016 in “Laboratory Investigation” TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
4 citations
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March 2018 in “Animal biotechnology” This study suggests that the LAMTOR3 gene may play a role in the development of hair follicles and cashmere growth in Liaoning cashmere goats by influencing the MAPK signaling pathway.