research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Pyrene Excimer Nucleic Acid Probes for Biomolecule Signaling
Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
research Response of the Skin of Mice to Methyl Ether of Vitamin A and Vitamin A Palmitate1
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Rejuvenation of the Lower Eyelid Complex
The article concluded that choosing the right surgical method based on a patient's specific needs can make the lower eyelid look younger.
research Spheroid transplantable and functional retinal pigment epithelium derived from non-colony dissociated human induced pluripotent stem cells
Human stem cells can turn into functional eye cells that might help treat retinal diseases.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research 035 Expansion of bacterial phosphatidylglycerol reactive CD4+ T cells in atopic dermatitis
People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
research Upper Eyelid Nodule - An Unusual Presentation of Ocular Demodicosis
A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.
research Efficacy of tip cryotherapy in the treatment of idiopathic guttate hypomelanosis (IGH): a randomized, controlled, evaluator-blinded study
Tip cryotherapy effectively treats idiopathic guttate hypomelanosis with minimal side effects.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Clearance of ichthyosis linearis circumflexa with balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research ХРОНИЧЕСКИЙ ТОНЗИЛЛИТ: НОВЫЕ АСПЕКТЫ ПАТОГЕНЕЗА
Chronic tonsillitis is linked to NETosis activity, which may help tailor treatments and reduce tonsil removal surgeries.
research Actinic superficial folliculitis
Actinic superficial folliculitis is a unique skin condition caused by intense heat and sweating.
research Finasteride Induced Clinical Ocular Toxicity
research Recent advances in neuropeptide-related omics and gene editing: Spotlight on NPY and somatostatin and their roles in growth and food intake of fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research A skin organoid-based infection platform identifies an inhibitor specific for HFMD
NSC167409 can effectively inhibit the virus causing hand, foot, and mouth disease.
research Clinical Snippets
Razor bumps are linked to a genetic variant, misoprostol helps erythromelalgia pain, steroid ointments don't affect skin rhythms, and certain antibodies are common in localized scleroderma.
research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research A green light emitting turn-on ionic liquid-based nano-optode for selective and sensitive detection of dextran sulphate
A new fluorescent material can detect dextran sulfate sodium, turning green when present, useful for forensic and environmental monitoring.
research 1317 Nicotinic acid suppresses sebaceous lipid synthesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2)
Nicotinic acid reduces excessive oil production in skin cells by activating a specific receptor, which could help treat acne.
research 光治療における光学マイクロニードルに関する研究
research Unilateral branch retinal artery occlusion in a patient with systemic lupus erythematosus
Systemic lupus erythematosus treatment can restore vision in patients with retinal artery occlusion.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.