1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
January 2018 in “Journal of Investigative Dermatology” This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.
December 2013 in “Praxis medica” In this study, a strong correlation was found between the scores of two dermatology-specific quality of life instruments, DLQI and Skindex-16, suggesting they can provide complementary insights for assessing patients with skin diseases.
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.
August 2024 in “Case Reports in Ophthalmology” In this case report, researchers observed that local radiation therapy to the orbits may not be sufficient to halt progression of new retinal lesions in older patients, even when the disease initially appears confined to the intraocular space.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” This study found that in a mouse model of Ross River virus-induced joint inflammation, targeting IL-17A and IL-17A/F heterodimers reduced disease severity.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
10 citations
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September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
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.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study suggests that NKG2D+ Vδ1 T cells may contribute to hair follicle pathology in alopecia areata by recognizing stressed keratinocytes and inducing immune privilege collapse.
2 citations
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May 2025 in “IntechOpen eBooks” This article highlights that early and high-dose corticosteroid therapy, along with immunosuppressive agents, is crucial for managing Vogt-Koyanagi-Harada disease, and emerging biological therapies may benefit refractory cases.
56 citations
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September 2014 in “Molecular Endocrinology” This study found that the absence of unliganded vitamin D receptor significantly impairs cWnt and hedgehog signaling pathways necessary for hair cycle initiation in VDR-null mice.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
January 1994 in “Toxicological Sciences” This study found that chronic high dosages of 2-(difluoromethyl)-dl-ornithine caused various toxicities in rats and dogs, with some effects potentially minimized at lower dosages.
1 citations
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December 2004 in “Hepatology” This study found that in lamivudine-resistant hepatitis B patients, tenofovir significantly reduced HBV DNA levels faster and more consistently than adefovir, reaching undetectable levels in all treated patients by 44 weeks.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
3 citations
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September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
January 2026 in “Contemporary Clinical Dentistry” This case report describes a rare instance of Vogt-Koyanagi-Harada disease in a 21-year-old Asian woman, highlighting unusual oral manifestations such as tooth discoloration and misalignment, which expand the known clinical spectrum of the disorder.
22 citations
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August 2020 in “Health and Quality of Life Outcomes” In this study, the DLQI demonstrated reliable psychometric properties and a unidimensional structure for assessing health-related quality of life in Brazilian patients with various skin conditions.
7 citations
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October 2023 in “European Journal of Pharmacology” This study found that Cannabidivarin (CBDV) promotes neuronal differentiation and inhibits oligodendrocyte maturation via TRPV1 modulation, highlighting its potential in neural stem cell research.
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.
13 citations
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November 2013 in “Journal of Endocrinology/Journal of endocrinology” This study found that the vitamin D receptor, but not its ligand, regulates genes involved in hair cycle progression, suggesting a role in integrating hormone signaling pathways for hair and epidermal functions.
25 citations
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February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
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.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
45 citations
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July 2025 in “Journal of Medicinal Chemistry” This article discusses the development and clinical progress of PROTAC technology, particularly focusing on the New Drug Application for vepdegestrant, an estrogen receptor-targeting PROTAC, marking significant advancements in targeted protein degradation therapies.
March 2023 in “Italian journal of dermatology and venereology” 3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.