This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
13 citations
,
February 2025 in “Nature Communications” In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
September 2025 in “Development” In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.
7 citations
,
July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
208 citations
,
November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
2 citations
,
February 2017 in “International Journal of Molecular Sciences” This study found that Erdr1 expression was significantly reduced in the skin of patients with hair loss disorders, particularly alopecia areata, suggesting it may serve as a novel biomarker.
91 citations
,
December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
76 citations
,
January 1998 in “Mammalian Genome”
1 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the NAC transcription factor RD26 as a critical regulator of drought-induced root hair growth restriction in Arabidopsis thaliana, with a similar mechanism observed in tomatoes, indicating evolutionary conservation.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
5 citations
,
September 2013 in “BMB Reports” In this study, the anti-wrinkle effect of bone morphogenetic protein receptor 1a extracellular domain was significantly greater than that of retinoic acid in a mouse model, suggesting potential for BMP antagonists in skin or hair treatments.
13 citations
,
June 2017 in “Biochimie open” This study determined that the human steroid 5α-reductase enzymes localize to the endoplasmic reticulum in HeLa cells, with protein tagging affecting expression and inducing protein aggregates for some isoforms.
March 2021 in “Research Square (Research Square)” This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
62 citations
,
January 2009 in “Biochemistry” This study found that both the natural ligand 1alpha,25(OH)(2)D(3) and the synthetic agonist LG190178 bind similarly to the vitamin D receptor's coregulator motifs, suggesting similar biological functions.
13 citations
,
August 2016 in “Reproduction” In this study, nandrolone decanoate treatment in rats caused persistent diestrus and altered steroid receptor expression and sex hormones, especially at higher doses, with partial reversibility at lower doses over time.
4 citations
,
January 2006 in “PubMed” This study found that finasteride-induced DHT deficiency altered estrogen receptor expression in the epididymis, potentially destabilizing its function.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
9 citations
,
June 2021 in “Journal of Inflammation Research” This study found that Euph E and Euri A showed strong anti-inflammatory activity and modulated cytokine and immune functions in macrophages, related to specific signaling pathways.
24 citations
,
January 1989 in “Archives of biochemistry and biophysics” This study found that androgen binding in male rat livers involves specific androgen receptors, which decrease with castration and are inducible in female livers with testosterone.
36 citations
,
November 2018 in “BMC plant biology” This study suggests that ROXYs and reactive oxygen species are likely involved in the signaling pathways plants use to respond to nitrate deprivation.