23 citations
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December 2004 in “Seminars in oncology” This study found that DVd therapy is at least as effective as VAD/VAd for treating multiple myeloma and causes fewer side effects and reduced hospital visits.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
9 citations
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April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
11 citations
,
May 2011 in “The Journal of Dermatology” This case report describes a possible association between Vogt-Koyanagi-Harada disease and linear IgA/IgG bullous dermatosis in a 35-year-old Japanese male, though coincidence cannot be ruled out.
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.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
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 case study, donor lymphocyte infusions effectively eradicated measurable residual disease in a patient with relapsed acute myeloid leukemia after hematopoietic cell transplantation, while side effects included the development of vitiligo and alopecia areata, likely due to chronic graft-versus-host disease.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
1 citations
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April 2013 in “Journal of Investigative Dermatology”
37 citations
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April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
16 citations
,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
14 citations
,
August 2018 in “Frontiers in Cellular and Infection Microbiology” This study found that dengue virus infection caused inflammation and cell death in human hair-follicle dermal papilla cells, which may contribute to increased hair shedding observed during the epidemic in Taiwan.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
22 citations
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November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
July 2022 in “Journal of Investigative Dermatology”
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
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.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
5 citations
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June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.