56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
65 citations
,
June 2003 in “EMBO journal” This study reports that overexpressing the BMP antagonist noggin in mice inhibits eyelid opening by reducing apoptosis and delaying cell differentiation in the eyelid epithelium.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.
April 2018 in “Journal of Investigative Dermatology” This study found that external light can rapidly activate hair follicle stem cells in animals via a retinal light-sensing pathway linked to the central and autonomic nervous systems.
April 2018 in “Journal of Investigative Dermatology” The researchers reported that in nonmelanoma skin cancers, the expression of osteopontin splice variants is significantly higher compared to normal skin, with OPN-a elevated in basal cell carcinoma more than OPN-c.
6 citations
,
August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
32 citations
,
November 2016 in “Journal of Dental Research” This review explores the role of Panx3 in skeletal formation and discusses its potential in developing new therapies for conditions like osteoarthritis, without presenting new clinical findings.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers explored various aspects of the TRPV3 ion channel, including its novel mechanosensitivity to shear stress, and identified novel agonists while investigating how repeated stimulation affects TRPV3 activity, but found no evidence of GPCRs sensitizing the channel.
July 2025 in “Journal of Investigative Dermatology”
17 citations
,
December 2001 in “Journal of Investigative Dermatology” This study found that osteopontin mRNA is abundantly expressed in dermal papilla cells during the catagen phase of hair growth in rats, suggesting a role in this phase.
10 citations
,
May 2021 in “Frontiers in Plant Science” This study identified OsRopGEF3 as a key regulator in rice root hair growth, demonstrating that it interacts with proteins to promote reactive oxygen species production, affecting root hair length and width.
September 2016 in “Journal of dermatological science” The researchers reported that the OVOL1-OVOL2 axis may play a role in hair follicle differentiation and tumorigenesis, and OVOL1 and OVOL2 are potential diagnostic markers for pilomatricoma and pilomatrix carcinoma.
19 citations
,
May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the type 3 IP(3) receptor in their hair follicles experienced repetitive hair loss and regrowth, indicating disrupted hair-cycle regulation potentially linked to specific signaling pathways.
July 2024 in “Journal of Investigative Dermatology” 9 citations
,
July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
70 citations
,
November 2020 in “The Ocular Surface” This review discusses the role of organoids and organ chips in advancing ophthalmological research and therapeutic evaluation, but it reports no new clinical findings.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.
93 citations
,
June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
May 2013 in “Optometry and vision science” This abstract provides summaries of multiple clinical reports on topics like macular holes with posterior uveal melanoma, hemolacria, trichotillomania management with bimatoprost, Demodex identification methods, and psychological factors in contact lens discomfort, but reports no new research findings.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.
19 citations
,
January 2020 in “Journal of Biophotonics” This study found that using a PEG-400/oleic acid mixture as an optical clearing agent enhanced the detection depth of particles in skin without causing dehydration, based on tests in rats and further testing in vivo.
31 citations
,
October 2010 in “Progress in lipid research” This review discusses the role of LPA(3) in embryo implantation and its genetic connection with prostaglandin signaling, but reports no new clinical results.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
This study found that activation of delta-opioid receptors in keratinocytes may delay the expression of the PER2 gene, suggesting a possible link to cancer development through circadian rhythm disruption.
8 citations
,
December 2015 in “JAMA ophthalmology” This abstract contains no research results; it's a website navigation menu and institutional policy information from JAMA Ophthalmology.
37 citations
,
January 1986 in “Carcinogenesis” This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.