research Effects of Hair dyes on Sequence Analysis of Hair Mitochondrial DNA Hypervariable Region 1
Hair dyes affect DNA analysis results, with the prepFiler kit working best for hair with follicles.
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research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Protein kinase Akt2/PKBβ is involved in blastomere proliferation of preimplantation mouse embryos
Akt2 protein is essential for normal cell division in early mouse embryos.
research 52252 Analysis of basal cell carcinoma and trichoepithelioma with digital spatial profiling
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer
Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
research An isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of dehydroepiandrosterone sulfate in human serum and plasma
A new method accurately measures DHEAS in blood, improving on current tests.
research Clinical and analytical evaluation of LC-MS methods for plasma renin activity and aldosterone
The study developed methods to measure biomarkers in mice and found differences in hormone levels linked to gut microbiota diversity and stress response.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research The use of auto-antibody testing in the evaluation of interstitial lung disease (ILD) – A practical approach for the pulmonologist
Auto-antibody testing is a useful but not definitive tool in diagnosing interstitial lung diseases, and using a specific algorithm could make testing more cost-effective.
research Toll-like Receptor 3 Agonist, Polyinosinic-polycytidylic Acid, Upregulates Carbonic Anhydrase II in Human Keratinocytes
A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research Phosphatidylinositol‐specific phospholipase C2 functions in auxin‐modulated root development
A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
research Analysis of Protein Interactions by Surface Plasmon Resonance
Surface Plasmon Resonance is a useful tool for studying protein interactions and has potential for future technological advancements.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Diagnosis of Polycystic Ovary Syndrome using Free Testosterone levels via Surface Enhanced Raman Spectroscopy Induced by Gold Nanostar
A new low-cost method can accurately detect PCOS early by measuring free testosterone levels.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research An isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of 5-alpha-dihydrotestosterone in human serum and plasma
The procedure accurately measures 5-alpha-dihydrotestosterone in blood, useful for standard tests.
research A liquid chromatography/tandem mass spectrometry method for determination of aristolochic acid‐I in rat plasma
A reliable method was developed to measure aristolochic acid-I in rat blood.
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 Live imaging of skin immunity using two-photon microscopy: a short review
Two-photon microscopy improves skin imaging but faces safety and cost challenges for clinical use.
research Development and validation of rapid and simultaneous method for determination of 12 hair-growth compounds in adulterated products by UHPLC–MS/MS
Researchers created a reliable method to detect hair-growth substances in products.
research Optimal processing for proteomic genotyping of single human hairs
The method improved hair analysis for better forensic identification.
research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research A fast liquid chromatographic/mass spectrometric screening method for the simultaneous detection of synthetic glucocorticoids, some stimulants, anti‐oestrogen drugs and synthetic anabolic steroids
A quick method effectively detects banned substances in urine.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.