research Teacher CPD: towards a broader perspective
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
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research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Merkel cell polyomavirus infection and persistence modelled in skin organoids
Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
research Painful piezogenic pitting of the fingers in older adults: A case series
Older adults may experience painful finger pitting due to nerve changes in aging skin, and treatments can help reduce symptoms.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Nerve dependence in tissue, organ, and appendage regeneration
Nerves are crucial for the regeneration of various body parts in many animals.
research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Experimental study on the compatibility and degradation of human hair keratin bridging for peripheral nerve defects
Human hair keratin is a promising material for nerve repair.
research Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Procyanidins attenuate neuropathic pain by suppressing matrix metalloproteinase-9/2
Procyanidins from grape seeds reduce nerve pain by blocking specific proteins and inflammation.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research IMAGING INSIGHTS INTO JC VIRUS-ASSOCIATED PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN NEUROPSYCHIATRIC LUPUS: A CASE REPORT
Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
research Inhibitory amino acid transmitters associated with axons in presynaptic apposition to cutaneous primary afferent axons in the cat spinal cord
Presynaptic inhibition of certain nerve fibers in cats is mainly controlled by GABA and glycine.
research 509 Using the human iPSCs-derived sensory neurons re-innervated skin ex vivo model to investigate mast cell-nerve fiber cross-talk in solar elastosis
Nerve fibers may worsen mast cell activity, leading to abnormal elastic fiber buildup from sun exposure.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Pyoderma gangrenosum associated with rheumatoid arthritis mimicking vasculitis
Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Merkel cells stabilize nerve endings in the skin, and they change independently of each other.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.