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360-390 / 1000+ resultsresearch Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Construction of a cDNA library and identification of genes from Liaoning cashmere goat
Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Pulse cyclophospamide in severe lupus nephritis: Southern Indian experience.
IV cyclophosphamide effectively treated severe lupus nephritis in Indian patients.
research Autoamputation in a 45-Year-Old Female with Systemic Lupus Erythematosus Overlap with Systemic Sclerosis: A Case Report
Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
research Small cell lung cancer: Results of a phase II study of 1,2,4 triglycidylurazol
The drug TGU was ineffective against small cell lung cancer and caused significant bone marrow suppression.
research Study on Extraction of L-cystine from Cattle Hair
research Nε-(carboxymethyl) lysine (CML) inhibits hair follicle formation by suppressing hair bulb condensation
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Serenoa Repens (Saw Palmetto) for Lower Urinary Tract Symptoms (LUTS): The Evidence for Efficacy and Safety of Lipidosterolic Extracts. Part III
Saw palmetto may improve urinary symptoms with fewer sexual side effects compared to some medications.
research Susan Lee Lindquist (1949–2016)—pioneer in the study of cellular protein folding and disease
Susan Lee Lindquist was a pioneering biologist who made significant contributions to understanding protein folding and its role in disease.
research Serenoa repens (saw palmetto) for Lower Urinary Tract Symptoms (LUTS): The Evidence for Efficacy and Safety of Lipidosterolic Extracts. Part III
Saw palmetto extract is effective and safe for treating lower urinary tract symptoms, working as well as certain medications, and works even better in severe cases.
research A Case of Relapsed Leprosy Successfully Treated With Sparfloxacin
A man's relapsed leprosy was successfully treated with the antibiotic sparfloxacin.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Glutamate transporter Slc1a3 mediates inter‐niche stem cell activation during skin growth
The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research A case of eruptive lichen spinulosus after toxic epidermal necrolysis
A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research COMMUNICATION PREFERENCES OF PATIENTS WITH LIMITED ENGLISH PROFICIENCY IN THE OTOLARYNGOLOGY CLINIC SETTING
Patients with limited English prefer professional language interpretation in otolaryngology clinics.