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research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
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.
research Videodermoscopy in the evaluation of hair and scalp disorders.
This review discusses the use of videodermoscopy in evaluating scalp and hair disorders, highlighting its potential to improve diagnostic accuracy without the need for invasive biopsies, but notes that further prospective studies are needed.
research Ultraviolet-Induced Fluorescence Dermoscopy for the Differentiation of Non-Pigmented Malignant and Benign Lesions on the Face
This study suggests that using UVFD to examine non-pigmented facial lesions can potentially enhance diagnostic accuracy and reduce unnecessary biopsies.
research Microscopic high-resolution digital volumetric imaging of human hair fibers
This paper discusses the use of Digital Volumetric Imaging with fluorescent dyes to visualize and compare the interior structures of six different virgin hair types, reporting no new clinical results.
research VDAC2 Mediates the Apoptosis of Cashmere Goat Hair Follicle Stem Cells Through the P53 Signaling Pathway
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.
research Endocrine profile of the VCD-induced perimenopausal model rat
In this study, the authors concluded that the VCD-induced follicular depletion rat model can effectively simulate the perimenopause transition, with hormonal changes distinguishing early/mid-transition from late transition to estropause.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
research High-magnification universal serial bus dermoscopy: A convenient alternative to direct microscopic examination
USB videodermatoscopes are a practical and affordable alternative for diagnosing skin conditions.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
research Ultraviolet-Induced Fluorescence and Sub-Ultraviolet Reflectance Dermatoscopy of Grover’s Disease (Transient Acantholytic Dermatosis): a Retrospective Single-Center Cohort Study
In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.
research Videodermoscopy Evaluation in Non-scarring Alopecia of Scalp
This study found that videodermoscopy is a promising non-invasive tool for distinguishing between types of non-scarring alopecia on the scalp, highlighting its potential in dermatological practice.
research Behavioural characterization of Vitamin D receptor knockout mice
This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
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.
research Squamous epithelial proliferation induced by walleye dermal sarcoma retrovirus cyclin in transgenic mice
This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
research Vitamin D‐dependent rickets type I and type II
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.
research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
This case study indicates that older patients with NMOSD may show favorable clinical improvements with aggressive treatment, even when the intervention is initiated later in the disease course.
research Phase II Evaluation of VDC‐1101 in Canine Cutaneous T‐Cell Lymphoma
This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
research NDA Submission of Vepdegestrant (ARV-471) to U.S. FDA: The Beginning of a New Era of PROTAC Degraders
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.
research Use of smartphones in telemedicine: Comparative study between standard and teledermatological evaluation of high-complex care hospital inpatients
This study suggests that low-cost videomicroscopes may not be reliable for diagnosing hair and scalp disorders due to limitations in color quality and resolution.
research Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population
This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
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.
research A woman with headaches and blurred vision
This article discusses a case of Vogt-Koyanagi-Harada disease, detailing symptoms, diagnostic features, and treatment with corticosteroids, but it reports no new clinical findings.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
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.
research A NEW VITAMIN DEFICIENCY DETECTION SYSTEM
This study introduced the Vitamin Deficiency Detection System, which helps users identify potential vitamin deficiencies by analyzing symptoms they select on a user-friendly interface.
research In vivo function of VDR in gene expression-VDR knock-out mice
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.
research Absence of vellus hair in the hairline: a videodermatoscopic feature of frontal fibrosing alopecia
Lack of small, fine hair on the front hairline is a key sign of frontal fibrosing alopecia.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.