37 citations
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April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
153 citations
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June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
21 citations
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November 2017 in “Livestock science” This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
12 citations
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August 2015 in “Experimental Dermatology” This study indicated that the mineralocorticoid receptor (MR) plays a transient role in regulating epidermal differentiation during late embryonic stages, with glucocorticoid receptor (GR) potentially compensating for MR loss during the perinatal period.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
133 citations
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June 2016 in “Nature Neuroscience” Zeb2 is crucial for nerve repair by controlling Schwann cell function.
2 citations
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November 2017 in “PloS one” This study found that 2MbisP increases epidermal thickening more rapidly than atRA in rhino mice, while both compounds similarly reduce utricle size.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” This article reviews the role of R-spondins and their receptors in bone development and metabolism, highlighting their potential modulatory effects and clinical implications for treating bone loss diseases, but reports no new clinical results.
14 citations
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March 2022 in “Plant Cell & Environment” In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
4 citations
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January 2006 in “PubMed” This study found that finasteride-induced DHT deficiency altered estrogen receptor expression in the epididymis, potentially destabilizing its function.
127 citations
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July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
April 2018 in “Journal of Investigative Dermatology” This study found that NDRG1 expression increases during the proliferation of infantile hemangioma and may positively regulate its growth, while FOXO1 downregulation plays a role in its pathogenesis.
84 citations
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September 2008 in “Developmental biology” This study found that cellular retinoic acid-binding proteins and fatty acid-binding proteins are dynamically expressed in skin development and respond differently to retinoic acid, β-catenin, and Notch signaling.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
This study found that transgenic expression of Endothelin 3 in mice can maintain a dark pigmentation phenotype independently of Mc1r signaling by regulating melanogenic genes.
April 2025 in “Molecular Biology Reports” In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.
June 2023 in “Italian Journal of Medicine” This study found that urotensin II promoted proliferation and VEGF secretion in rat dermal papilla cells by activating the Wnt-β-catenin signaling pathway, with the effect being reversible by a Wnt inhibitor.
November 2022 in “Scientific Reports” This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.
July 2026 in “Theranostics” This study developed a novel ferritin-based delivery system (LR@Fn) that effectively co-delivers RG108 and LLY283 for hearing loss treatment in animal models, reducing hair cell loss and synaptic damage more effectively than dexamethasone.