17 citations
,
September 2014 in “PLoS ONE” This study found that SK2 channels in sensory terminals of rat muscle spindles and hair follicles may play a crucial role in modulating mechanosensory transduction by influencing receptor potentials through Ca2+-activated K+ currents.
57 citations
,
May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.
January 2012 in “Methods in pharmacology and toxicology” This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.
216 citations
,
June 2015 in “PLANT PHYSIOLOGY” This study found that OsPHR3 overexpression in rice led to significant tolerance to low-phosphorus stress and normal growth under normal conditions, suggesting its potential for improving phosphorus uptake efficiency.
2 citations
,
January 2021 in “The Scientific Journal of Al-Azhar Medical Faculty Girls” This study found that patients with alopecia areata had higher serum osteopontin levels and more eye abnormalities compared to healthy controls, although visual acuity was not affected.
41 citations
,
April 2009 in “Journal of comparative neurology” In this study, researchers observed that P2X3-immunoreactive fibers extensively innervate the epidermis of rats, suggesting a primary role in detecting noxious stimuli in cutaneous tissue.
132 citations
,
February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
38 citations
,
July 2019 in “Nature Communications” This study found that Par3 plays a crucial role in maintaining epidermal homeostasis by regulating Rho/actomyosin contractility and ensuring mitotic accuracy, with potential implications for other self-renewing epithelia.
3 citations
,
May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
3 citations
,
October 2021 in “The Application of Clinical Genetics” This study found that certain genetic variations in the OPN gene may be linked to atopic dermatitis and a higher prevalence of asthma in Caucasians.
19 citations
,
May 2022 in “International journal of molecular sciences” This study suggests that PRX01, PRX44, and PRX73 regulate extensin-mediated cell wall properties during root hair cell growth, influencing growth patterns, peroxidase activity, and cell wall thickness.
6 citations
,
November 2022 in “Antioxidants” In this study, sandalore was found to activate OR2AT4, which inhibits senescent cell traits and restores proliferation in human keratinocytes, suggesting potential anti-aging applications.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
1 citations
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May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This paper presents an RGB video microscopic system to monitor optical properties of hair shafts and follicles in vitro, but reports no new clinical results.
13 citations
,
October 2017 in “Bioorganic & Medicinal Chemistry” This study found that compound 3, a tetrahydropyridoindole carboxymethylated at position 5, significantly inhibited sorbitol accumulation in both rat eye lenses and tissues affected by diabetes, indicating its potential as a lead compound for ALR2 inhibition.
January 2014 in “eScholarship (California Digital Library)” In this study, researchers observed that TLR3 and scavenger receptors play key roles in skin barrier repair following UVB damage, contributing to our understanding of cellular responses to skin injury.
4 citations
,
January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
1 citations
,
August 2016 in “Dermatology - Open Journal” In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.
5 citations
,
February 2014 in “PloS one” This study reports differential gene expression in the leading edge and inner surface epithelial cells of murine eyelids, suggesting that distinct signaling pathways are active during embryonic eyelid closure.
6 citations
,
October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
105 citations
,
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.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
29 citations
,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.