research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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540-570 / 1000+ resultsresearch Silicon-Related Syndrome in Dialysis Patients
Silicon may affect calcium metabolism in dialysis patients, causing symptoms like skin eruptions and abnormal hair growth.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research P.1.g.019 RY-023, an inverse agonist at alpha5 GABAA receptors: the influence on spatial memory and spontaneous locomotor activity
RY-023, a specific drug, can improve early stage memory learning without affecting general activity in rats, but it's less effective for later learning stages and doesn't impact memory recall.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Tombo em João Pessoa dá força a Memorial da Arquitetura Paraibana
Targeted cancer drugs can cause skin reactions, so dermatologists must manage these effects.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Finasteride Blocks the Reduction in Ictal Activity Produced by Exogenous Estrous Cyclicity
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Temporary Facial Blanching After Botulinum Toxin Injection in Asian: A Case Report and Review of the Literature
Temporary facial blanching can occur after Botulinum toxin injections, but it resolves without discomfort.
research 22. The effects of finasteride on behavioral changes in thioacetamide-induced hepatic encephalopathy in rats
Finasteride improved reflexes and motor activity in rats with liver-related brain issues.
research Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer
Medical castration in prostate cancer patients can increase the risk of serious heart rhythm problems, so it's important to monitor heart activity during treatment.
research Dermatologic Manifestations In Chronic Kidney Disease Patients On Hemodialysis
Patients with chronic kidney disease on hemodialysis often have skin problems.
research Cutaneous Adverse Events in Patients with Chronic Hepatitis C during Treatment with Directly Acting Antiviral Agents: A cohort study
34% of patients on hepatitis C treatment had reversible skin issues.
research Vitiligo complicating diphencyprone sensitization therapy for alopecia universalis
Diphencyprone therapy for hair loss can cause vitiligo.
research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Coordination of force-generating actin-based modules stabilizes and remodels membranes in vivo
Actin filaments help stabilize and reshape cell membranes.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90
Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.