4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
46 citations
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March 2005 in “Endocrinology” In this study, ectoderm-targeted transgenic mice with glucocorticoid receptor overexpression exhibited multiple epithelial defects, suggesting the role of NF-kappaB and p63 dysfunction in ectodermal dysplasia syndromes.
2 citations
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June 2020 in “Research Square (Research Square)” This study demonstrated that the antiandrogen drug enzalutamide may reduce TMPRSS2 levels in human lung cells and mouse lungs, supporting its potential as a COVID-19 treatment option.
9 citations
,
March 2012 in “Experimental dermatology” This meeting report discusses the first symposium on natural gene therapy for skin, preceding the 41st annual meeting of the European Society for Dermatological Research, and reports no new experimental findings.
1 citations
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December 2024 in “BMC Genomics” This study used transcriptome analysis to explore the genetic mechanisms behind the development and seasonal variation of nuptial pads in R. chensinensis, identifying key genes and processes that suggest the pads' development involves complex regulatory pathways, particularly those related to cell cycle and hormone synthesis.
11 citations
,
August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
35 citations
,
May 2019 in “Frontiers in genetics” This study reported that specific non-coding RNAs may regulate the hair follicle cycle in Angora rabbits by acting as competitive endogenous RNAs, enhancing understanding of ncRNA roles in hair growth.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
49 citations
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September 2015 in “Psychoneuroendocrinology” This study suggests that the 5α-reductase inhibitor finasteride modulates sensorimotor gating in rats by affecting D1 and D3 receptors, but not D2 receptors, with varying effects based on genetic strain.
222 citations
,
October 2014 in “Annual Review of Pharmacology and Toxicology” This review discusses the roles of Eph receptors and ephrins in various diseases, highlighting their potential as therapeutic targets, but it presents no new research findings.
5 citations
,
January 2025 in “Science Advances” In this study, researchers observed that acute stress increased levels of the enzyme 5αR2 in the medial prefrontal cortex of male rats, affecting stress reactivity, but this effect was not seen in females.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies key transcriptomic features and a necessary dermal niche for eccrine gland development, advancing potential regenerative approaches for these vital skin appendages.
This study found that the transcription factor Meis2 is crucial for the maturation and innervation of sensory neurons responsible for light touch in mice, with its absence leading to reduced touch sensitivity.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
34 citations
,
September 1997 in “Acta Dermato Venereologica” This study found that RXR agonists stimulated human hair follicle growth and survival in vitro, suggesting potential for promoting hair growth in humans.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
1 citations
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January 2025 in “Journal of Cosmetic Dermatology” This study found that increased ACE2 expression, prompted by mechanical stretch, promotes skin regeneration and reduces dermal thinning during tissue expansion by enhancing collagen synthesis, suggesting ACE2's potential to improve clinical outcomes in reconstructive surgery settings.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
November 2023 in “Research Square (Research Square)” In this study, researchers used NIR-II fluorescence imaging to track the survival and migration of EPI-NCSCs in rat models, finding that these stem cells aided in repairing facial nerve defects when applied via acellular nerve allografts.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
19 citations
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March 2022 in “Molecular therapy. Nucleic acids” This study found that silencing the circular RNA circNlgn in mice reduced doxorubicin-induced cardiofibrosis and cardiomyocyte apoptosis, suggesting potential therapeutic strategies for minimizing heart-related side effects in cancer treatment.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.