research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
Search
for
Sort by
Research
480-510 / 1000+ results research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Molecular characterization of HOXC8 gene and methylation status analysis of its exon 1 associated with the length of cashmere fiber in Liaoning cashmere goat
The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
research Volatile signalling by sesquiterpenes from ectomycorrhizal fungi reprogrammes root architecture
Fungi-produced compounds can change plant root growth.
research ยาฉดไซโปรเทอโรนอะซเตทปลดปลอยนาน ชนดใชนำมนมะพราวผสมตวทำละลายเปนนำกระสายยา Cyproterone Acetate Sustained-Release Injection Using Mixed Coconut Oil/Solvent as Vehicle
Mixed coconut oil/solvent is suitable for cyproterone acetate injections, but more safety checks are needed.
research Drought-induced SlCLE10 coordinates ethylene biosynthesis and root hair development to confer osmotic stress tolerance in tomato
Overexpressing SlCLE10 in tomatoes boosts root hair growth and drought tolerance.
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 Signal Peptide-CUB-EGF-like Domain-Containing Protein 3 (SCUBE3): From Molecule to Therapy
SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
research Behavioral effects and somnolence due to levetiracetam versus oxcarbazepine — a retrospective comparison study of North Indian patients with refractory epilepsy
Levetiracetam often causes behavioral issues, while oxcarbazepine is more likely to cause sleepiness in epilepsy patients.
research rwSALT: a regrowth-weighted SALT score providing direct pixel-level measurement rather than visual estimation
rwSALT provides precise hair regrowth measurement from scalp photos.
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
research LSD1 interacting with HSP90 promotes skin wound healing by inducing metabolic reprogramming of hair follicle stem cells through the c‐MYC/LDHA axis
LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research 10×Genomics Single-cell Sequencing Reveals Differential Cell Types in Skin Tissues of Liaoning Cashmere Goats and Key Genes Related Potentially to the Fineness of Cashmere Fiber
The study found specific skin cells and genes that may affect the quality of cashmere in Liaoning Cashmere Goats.
research Probing neuronal functions with precise and targeted laser ablation in the living cortex
The laser system helps study brain cell functions by precisely removing specific cells and observing changes.
research Acute pancreatitis: An unusual presentation of systemic lupus erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research Lithium chloride promotes the odontoblast differentiation of hair follicle neural crest cells by activating Wnt/β‐catenin signaling
Lithium chloride helps hair follicle cells become tooth cells by activating a specific signaling pathway.
research The pioneer factor SOX9 competes for epigenetic factors to switch stem cell fates
SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research 710 BIOMARKERS OF SUNITNIB CLINICAL RESPONSE IN METASTATIC RENAL CLEAR CELL CARCINOMA PATIENTS
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Evaluation of SARS-CoV-2 entry, inflammation and new therapeutics in human lung tissue cells
A new method using human lung cells helps find drugs to block and reduce inflammation from SARS-CoV-2.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research PLAU and SerpinB2 role in apoptosis in leprosy
PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
research Abstract- Poster
Lithium for bipolar disorder can cause skin problems like rashes, which go away when the medication is stopped.
research Highlights of This Issue
SLCO genes may predict prostate cancer mortality risk, and lifestyle changes improve health in advanced prostate cancer.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Sodium Valproate-Induced Hyperpigmentation
Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.