research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
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420-450 / 1000+ resultsresearch Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with NUDT15 minor variant: A case report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research Gas Chromatography Tandem Mass Spectrometry for Biomarkers of Alcohol Abuse in Human Hair
A new method quickly detects alcohol use from hair in under an hour.
research Evaluation of Serum UL16 Binding Protein 3 in Patients with Tinea capitis
ULBP3 levels are higher in Tinea capitis patients and may help predict the disease's severity.
research Long-term detection of methyltestosterone (ab-) use by a yeast transactivation system
A yeast-based test can detect the steroid methyltestosterone in urine longer than traditional methods.
research 496 Understanding the mechanism of action of secukinumab using lesional hidradenitis suppurativa skin organ culture
Secukinumab reduces immune activity in hidradenitis suppurativa skin.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects
Combining genetic models helps improve heat tolerance in beef cattle.
research Comparative transcriptome profiling of hair follicles from forest musk deer (Moschus berezovskii) at different stages
The research provides insights into hair follicle growth in forest musk deer by identifying key genes and pathways involved.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research Predictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF)
IL-1 blockade is effective for treating SURF, and personalized treatment is needed.
research Targeting telomeric RNA quadruplexes with natural metabolites to prevent cancer
research Topological Markers for Subcellular Chemical Mapping using TOF-SIMS
TOF-SIMS improved chemical mapping in cells, confirming gunshot residue, tracking anti-tumor drugs, and identifying molecules in mosquitoes and wounds.
research UV SPECTROPHOTOMETRIC METHOD FOR DETERMINATION OF FINASTERIDE IN BULK AND PHARMACEUTICAL DOSAGE FORM
The method measures finasteride accurately and cheaply using UV light.
research UV SPECTROPHOTOMETRIC METHOD FOR SIMULTANEOUS DETERMINATION OF FINASTERIDE AND TAMSULOSIN IN COMBINED DOSAGE FORM
Researchers developed a quick and accurate method to measure finasteride and tamsulosin in tablets.
research Purification and characterization of an immuno-stimulatory compound from the water extract of royoporus badius (Pers.) A.B. De.
A new compound from Royoporus badius activates immune cells and induces inflammatory responses.
research In vitro biotransformation of finasteride in rat hepatic microsomes. Isolation and characterization of metabolites.
research Serine Biosynthesis In Human Hair Follicles By The Phosphorylated Pathway: Follicular 3-Phosphoglycerate Dehydrogenase
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 Sensitive Bromatometric Determination Of Finasteride In Pharmaceuticals Based On Complex-Formation Reactions
Two accurate methods were developed to measure finasteride in tablets.
research Laser microdissection and DNA typing of cells from single hair follicles
Laser microdissection helps get DNA from single hair follicles for better forensic analysis.
research Multi-omics empowered deep phenotyping of ulcerative colitis
Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.