research Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy
Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
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research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research Tritiated Thymidine: Effect of Decomposition by Self-Radiolysis on Specificity as a Tracer for DNA Synthesis
Decomposed tritiated thymidine is less accurate for DNA tracing, and hair changes can indicate malnutrition.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
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 Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Effect of a transcriptional inactive or absent vitamin D receptor on beta-cell function and glucose homeostasis in mice
Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Identification and Characterization of Two Se6OMTs from Stephania epigaea Offer Novel Insights into the Biosynthetic Pathway of Cepharanthine
The research found enzymes in Stephania epigaea that help make cepharanthine.
research Genetic effects of vascular endothelial growth factor and its receptor 2 on feather maturity in three chicken breeds
VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
research Advancing mitochondrial therapeutics: Synthesis and pharmacological evaluation of pyrazole-based inhibitors targeting the mitochondrial pyruvate carrier
New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
research 102 Methylation of CpG islands in promoter of type 2 5-α reductase and implications of finasteride resistance for BPH therapy
Methylation in specific gene region causes finasteride resistance in some BPH patients.
research Mechanism of Hair Curling via Laccase-Assisted Tyrosine Grafting Using BSA as a Model Protein
A gentler, less damaging method for curling hair using tyrosine works well initially but fades after washing.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Arabidopsis VILLIN4 is involved in root hair growth through regulating actin organization in a Ca2+‐dependent manner
VILLIN4 helps root hair growth by organizing actin with calcium.
research Adverse effect profile with low-dose methotrexate therapy in patients suffering with rheumatic diseases
Low-dose methotrexate is generally safe but can cause mild to severe side effects, and folic acid can reduce these risks.
research Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
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 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research DNA Methylation Dynamics During Esophageal Epithelial Regeneration Following Repair with Acellular Silk Fibroin Grafts in Rat
DNA methylation changes affect gene expression during esophageal healing with silk grafts in rats.
research Retiform Purpura Caused by the Use of Cocaine, That Was Probably Adulterated with Levamisole
Cocaine possibly mixed with levamisole caused a woman's skin condition and blood issues, which improved with treatment.
research Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
Different keratin types have unique amino acid patterns that are evolutionarily conserved.
research Epigenetic orchestration of RNA m6A methylation in wound healing and post-wound events
m6A methylation is crucial for proper wound healing and tissue repair.
research A Case of Valproate Toxicity Related to Isoniazid
Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.