research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
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570-600 / 1000+ results research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research Facile One-Pot Synthesis of Substituted Hydantoins from Carbamates
Scientists in India found a safer and efficient way to make a type of medicine called hydantoins from carbamates, which also worked well in making the seizure medicine, Ethotoin.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research Decoding the role of OsPRX83 in enhancing osmotic stress tolerance in rice through ABA-dependent pathways and ROS scavenging
OsPRX83 helps rice survive stress by improving stress response and antioxidant activity.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research Limits of Visual Detection for Finasteride Polymorphs in Prepared Binary Mixtures: Analysis by X‐ray Powder Diffraction
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Price Wars
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research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Long-Term Efficacy of Ritlecitinib up to Month 24 From the ALLEGRO Phase 2b/3 and Long-Term Phase 3 Clinical Studies in Alopecia Areata
Ritlecitinib is effective for long-term treatment of severe alopecia areata.
research Flexible label-free SERS substrate with alginate-chitosan@silver nanocube for in situ nondestructive detection of thiram on apples
A new method was developed to detect pesticide residues on apples without damage.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Validated RP-TLC Method with Densitometry for Assay of Finasteride in Simple Pharmaceutical Dosage Form
A new, simple, and accurate method was created to measure finasteride in tablets.
research Біотехнологічне тестування за допомогою найпростіших
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research Development, validation, and application of an RP-HPLC method for concurrent quantification of Minoxidil and Finasteride in a topical solution for hair regrowth
The document concludes that a new method for measuring Minoxidil and Finasteride in hair regrowth solution is better because it considers separation theory and the properties of the ingredients. The mix of Methanol and water and the pH level greatly impact the measurement time and clarity.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Advertiser Beware
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research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research In Silico Screening of DrugBank Compounds as Potential Inhibitors for Human Steroid 5α-Reductase 2 for Androgen-Related Diseases
Stiripentol shows promise as a potential treatment for androgen-related diseases but needs more testing.
research Effects of transient receptor potential (TRP) channel agonists and antagonists on slowly adapting type II mechanoreceptors in the rat sinus hair follicle
TRPA1 and TRPV1 channels don't affect mechanotransduction in rat sinus hair follicles.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Repeatable Perming via Thiol–Michael Click Reaction: Using Amide Derived from Maleic Acid and Cystine
A new perming method is less damaging to hair and works as well as traditional methods.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Synthesis, Anticancer and Molecular Docking Studies of 2-(4-chlorophenyl)-5-aryl-1,3,4-Oxadiazole Analogues
The compound 4c showed strong potential as an anticancer agent.