3 citations
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March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
60 citations
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December 1988 in “Journal of Biochemical Toxicology” In this study, TCDD administered to male rats down-regulated EGF receptor in liver plasma membranes and increased protein kinase activity, suggesting EGF receptor–mediated toxicological effects.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
24 citations
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July 1994 in “Journal of Investigative Dermatology”
January 2024 in “Ankara City Hospital Medical Journal” This case report describes a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, highlighting challenges in diagnosis due to non-specific clinical criteria and documenting specific symptoms such as inflammatory arthritis, malar rash, and hematological abnormalities observed during follow-up.
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.
7 citations
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March 2012 in “European Journal of Pediatrics” This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.
February 2026 in “Indian Journal of Skin Allergy” This article reviews the clinical efficacy of Ruxolitinib cream for skin conditions, reporting significant improvements in atopic dermatitis and vitiligo, with minimal systemic absorption and a favorable safety profile, compared to placebo.
13 citations
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January 1963 in “Radiation Research” This study observed that in mice, small-scale x-ray irradiation resulted in uniquely rapid healing of hair follicles, differing from the hypertrophic and hyperplastic responses seen in larger irradiated areas.
277 citations
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July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
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.
March 2015 in “Institutional Repositories DataBase (IRDB)” This study found that Xiaochuang Drink significantly reduced the sebaceous gland and hair follicle diameter in a rabbit ear acne model and was determined to be safe at clinical doses.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
4 citations
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November 2022 in “Frontiers in endocrinology” This study found that intracrine androgen signaling via 5α-reductase is essential for optimal endometrial decidualization and vascular development during this process in mice.
January 1993 in “Claves de razón práctica” This study found that ROR2 plays a crucial role in the regulation of hair follicle stem cell self-renewal and maintenance, particularly by compensating for the absence of β-catenin.
11 citations
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January 1976 in “International Journal of Radiation Biology and Related Studies in Physics Chemistry and Medicine” This study found that a single X-radiation treatment in rat skin reduced collagen concentration over multiple hair-cycles by diminishing the fibroblasts' capacity for proline hydroxylation, potentially contributing to delayed skin lesions.
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.
September 2025 in “Institutional Repositories DataBase (IRDB)” January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
4 citations
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February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” In this study, only Vdr-knockout rats showed both abnormal skin formation and alopecia, which may provide insights into vitamin D receptor function and its role in the hair growth cycle.
April 2025 in “Our Dermatology Online” This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.
April 2024 in “Anais Brasileiros de Dermatologia”
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
18 citations
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June 2018 in “Journal of Dental Research” This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that engineered high-affinity soluble CD200R agonists, including ARQ-234, showed superior efficacy in reducing immune responses in various preclinical models of inflammatory conditions, suggesting potential as a therapeutic for atopic dermatitis and other related diseases.