research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research 3D Co-Culture model of Endothelial Colony Forming Cells (ECFCs) Reverses Late Passage Adipose-derived Stem Cell Senescence for Wound Healing
A 3D co-culture model improved stem cell function and wound healing.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Pre-clinical non-viral vectors exploited forin vivoCRISPR/Cas9 gene editing: an overview
Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.
research Bilateral nevus comedonicus: efficacy of topical tacalcitol ointment
Tacalcitol ointment effectively improves bilateral nevus comedonicus.
research New hopes and strategies for the treatment of severe ocular surface disease
New treatments using stem cells and special materials show promise for severe eye surface disease.
research Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study
The study aims to create a model to predict health attributes using diverse health data from Japanese adults.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
research Intracorneal vacuoles in skin diseases with parakeratotic hyperkeratosis in the dog: a retrospective light‐microscopy study of 111 cases (1973–2000)
Intracorneal vacuoles are common in parakeratotic skin diseases in dogs, especially with more parakeratosis.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Use of combined oral contraceptives and risk of venous thromboembolism in young women: a nested case–control analysis using German claims data
Some birth control pills increase young women's risk of blood clots more than others.
research Chloroquine and cinchonine affect rat vascular smooth muscle tonus through calcium channels – in silico and in vitro approaches
Chloroquine and cinchonine relax rat blood vessels by affecting calcium channels, with chloroquine needing caution in heart patients.
research Cerebral vasculitis as a severe complication of acute infectious meningoencephalitis—a case series of five different pathogens
Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research The role of cochlea extracellular matrix in age related hearing loss
Changes in the cochlea's extracellular matrix contribute to age-related hearing loss.
research The Negative Regulator CXXC5: Making WNT Look a Little Less Dishevelled
CXXC5 is a protein that prevents hair growth and could be a target for hair loss treatment.
research The Free Communications of the Eighth Clinical Congress (Virtual) of the Gulf Chapter of the American Association of Clinical Endocrinologists; November 5–7, 2020
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research Multiple and Recurrent Ocular Manifestations in a Patient of Vogt-Koyanagi-Harada Syndrome
Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research 126 cAMP response element-binding protein 1 (CREB) is a β-catenin-regulated transcription factor in squamous cell carcinoma (SCC) cells
CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
research Novel mechanisms for the vitamin D receptor (VDR) in the skin and in skin cancer
Vitamin D receptor helps prevent skin cancer and supports skin health.
research Contraceptive implants considered 'safe'
Some birth control pills increase blood clot risk; use them for specific conditions only.
research Use of virtual reality during scalp injections: A randomized interventional crossover study
Virtual reality can reduce pain during scalp injections.
research Dynamic characteristics of cerebrovascular reactivity or ventilatory response to change in carbon dioxide
Traditional methods may not fully capture how the brain and breathing systems respond to carbon dioxide changes.
research Streamlined Intravital Imaging Approach for Long-Term Monitoring of Epithelial Tissue Dynamics on an Inverted Confocal Microscope
A new 3D-printed microscope stage makes long-term imaging of live tissue easier and more accessible.
research Multi-omics analysis unveils the role of cancer-associated fibroblasts in cutaneous squamous cell carcinoma
Cancer-associated fibroblasts promote tumor growth in skin cancer.
research An exploration into the management and diagnosis of Polycystic Ovarian Syndrome by Complementary and Alternate Medical (CAM) practitioners in the eThekwini area
CAM practitioners in the eThekwini area are exploring ways to manage and diagnose Polycystic Ovarian Syndrome.
research 845 Dermal lymphatic vessels promote hair follicle growth via the BMP inhibitor Sostdc1
Dermal lymphatic vessels help hair growth by affecting hair cycle phases.