6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
104 citations
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May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
April 2025 in “Journal of the Association for Research in Otolaryngology” In this study, researchers observed that inhibiting myosin light chain kinase in hair cells reduced stiffness and oscillation in bullfrog hair bundles and increased hearing thresholds in mice.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
13 citations
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November 2017 in “Journal of Cellular and Molecular Medicine” This workshop reviewed various roles of endoplasmic reticulum chaperones, including calreticulin, in cellular signaling, disease states, and potential markers, but reports no new experimental findings.
June 2025 in “International Journal of Molecular Sciences” This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
32 citations
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April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
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.
122 citations
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June 1998 in “PubMed” This study found that sensory and sympathetic innervation in the mystacial pads of mice is governed by a balance of neurotrophin signaling, highlighting the roles of NGF/trkA and NT-3/trkC pathways.
24 citations
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August 2017 in “Prostaglandins & Other Lipid Mediators” This review discusses the potential roles of prostaglandin D2 and its receptor CRTH2 in various diseases beyond allergies and asthma and reports no new clinical results.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study identified a new subset of Ret-positive sensory neurons involved in itch perception, characterized by their unique expression profile and response to specific itch-inducing molecules.
14 citations
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April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
April 2023 in “Research Square (Research Square)” In this study, gene therapy using a VDR-expressing adenoviral vector significantly improved hair growth and reduced cyst formation in Vdr -KO rats with alopecia linked to type II rickets, whereas control treatments did not show these effects.
2 citations
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October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that RANKL promotes the regeneration of type II alveolar epithelial cells in lung tissue, suggesting it may play a role in lung repair processes for diseases like COPD and fibrosis.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
November 2024 in “Journal of Investigative Dermatology” August 2016 in “Journal of Investigative Dermatology” Activating Nrf2 can improve wound healing by increasing hair follicle stem cells.
2 citations
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July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
December 2024 in “CONICET Digital (CONICET)” This study found that the small signaling peptide RALF22 plays a key role in root hair growth response to volatile compounds emitted by Penicillium aurantiogriseum through ethylene, auxin, and photosynthesis signaling in Arabidopsis.
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.
January 2021 in “Medical Research Archives” This study observed that 25-hydroxyvitamin D3 restored rickets symptoms in genetically modified rats, suggesting its direct action through vitamin D receptor pathways.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that in an ex vivo setting, 17β-estradiol increased CB1 expression in human hair follicles, suggesting possible sensitivity to endocannabinoids and a potential mechanism for hair therapy.
October 2024 in “Developmental Dynamics” This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.
48 citations
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January 2011 in “Neuropharmacology” Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.