research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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120-150 / 1000+ resultsresearch Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research An evaluation of the RapidHIT™ ID system for hair roots stained with Diamond™ Nucleic Acid Dye
The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
research Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research Cloning and Activity of Mouse Ultra-High Sulfur Keratin Gene Promoter
The UHS promoter is specific to mouse hair follicles.
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
research Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS)
Hair follicles can be used to study gene expression and understand conditions like COPD.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Saccharomyces cerevisiae BLYAS, a New Bioluminescent Bioreporter for Detection of Androgenic Compounds
The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
research Uptake of sulfur-35 in human hair.
Sulfur-35 can be used to track hair growth and past exposure.
research Study on the Activity of Sheep High-sulfur Keratin Promoter
The B2C promoter works in sheep cells but not in mouse embryos.
research Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin
Nested PCR can reliably identify fungal infections when traditional methods fail.
research MP09-17 METHYLATION OF SRD5A2 IN THE BLOOD AS A NOVEL BIOMARKER TO PREDICT SENSITIVITY TO 5-ARI TREATMENT
SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
research High resolution full scan liquid chromatography mass spectrometry comprehensive screening in sports antidoping urine analysis
The method effectively detects banned substances in urine for sports antidoping.
research Quantification of biotin in plasma samples by column switching liquid chromatography – tandem mass spectrometry
The document describes a way to measure biotin in blood to prevent wrong test results in hormone level testing.
research Detection of polysulfide species in human hair cuticle and protective effect of sulfur donor on heat induced-damage of hair
research CSI on steroids
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research Sodium Metabisulfite: Effects on Ionic Currents and Excitotoxicity
Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research New Insight Into the Immunostaining Method Suitable for the Pilosebaceous Complex Unit
The study found that a one-step antibody method is better than the LSAB method for accurately studying hair follicle structures without false positives.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Preparation of a highly specific single chain variable fragment antibody targeting miroestrol and its application in quality control of Pueraria candollei by enzyme‐linked immunosorbent assay
The new ELISA method is reliable and eco-friendly for checking the quality of Pueraria candollei.