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.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
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.
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.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” This study found that double transgenic Arabidopsis plants overexpressing both AVP1 and AtNHX1 showed improved salt tolerance and enhanced root hair and hypocotyl growth compared to single transgenic lines.
1 citations
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October 2025 in “Frontiers in Immunology” In this study, researchers analyzed adverse events linked to avacopan using FDA data, finding no high-priority safety concerns but identifying five potential new adverse events, including alopecia, primarily among American patients, and noting a higher risk of liver dysfunction in Japanese patients.
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.
In this study, calcium imaging in transgenic mice revealed that non-neuronal TRPV4 in the skin enhances afferent signaling during electrical stimulation, suggesting a role for neuroimmune interaction in acupuncture signal initiation.
June 2016 in “American Journal of Cardiology” This review discusses the preliminary results of using rotational thrombectomy for acute dialysis-access graft occlusion in the upper extremity, reporting no new clinical outcomes.
6 citations
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June 2008 in “Journal of the European Academy of Dermatology and Venereology” This paper discusses a case of acrodermatitis continua that was resistant to treatment with etanercept, highlighting the therapeutic challenges faced, but reports no new research results.
3 citations
,
October 2001 in “British Journal of Ophthalmology” In this case, intralesional cidofovir showed a successful outcome for treating SCC without systemic toxicity, suggesting it may be worth considering alongside surgical excision.
7 citations
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March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
September 2023 in “Bangladesh Journal of Neurosurgery” This case report shares that a 25-year-old man with cerebral arteriovenous malformation was successfully treated with stereotactic radiosurgery in Bangladesh, achieving complete obliteration of the AVM without significant clinical symptoms.
32 citations
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May 2023 in “Frontiers in Immunology” This review explores the cellular dynamics of graft rejection in vascularized composite allotransplantation and discusses how understanding these processes might lead to innovative treatments for managing rejection.
February 2024 in “Cancers” This review highlights recent progress in developing androgen receptor degraders, such as PROTACs, for treating castration-resistant prostate cancer, and notes that several have entered phase I or II clinical trials, showcasing potential to address drug resistance challenges.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
2 citations
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July 2025 in “Scientific Reports” This study identified a novel Acinetobacter species, strain A1-4-2, with exceptional biodegradation abilities and low antibiotic resistance, found in diverse environments and potentially useful for ecological restoration by degrading organic pollutants.
June 2026 in “British Journal of Dermatology” This study reported that dermatological adverse events are common in patients treated with amivantamab for non-small cell lung cancer, often impacting quality of life and requiring treatment modifications.
82 citations
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January 2011 in “New Phytologist” This study demonstrated that AtVLN4 plays a role in root hair growth by regulating actin organization in a calcium-dependent manner.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
5 citations
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January 2018 in “Indian Journal of Dermatology/Indian journal of dermatology” This case report describes a 40-year-old woman who developed erythema annulare centrifugum, a type of skin rash, likely triggered by taking the drug aceclofenac.
26 citations
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September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
4 citations
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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.
November 2006 in “評価・診断に関するシンポジウム講演論文集” This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
August 2016 in “Journal of Investigative Dermatology” This study reported improvement in hair loss lesions in C3H/HeJ mice with alopecia areata following treatment with the CCR5 inhibitor maraviroc, alongside reduced infiltration of specific T cells in the lesions.
August 2026 in “South Asian Journal of Health Sciences” In this case report, a 35-year-old man developed avascular necrosis after receiving intradermal corticosteroid injections for alopecia areata, marking the first documented instance of this side effect from such treatment.