research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
Search
for
Sort by
Research
300-330 / 1000+ results research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research LB1159 First-in-human clinical trial evaluating AI-09, a novel long-lasting ready-to-use liquid injectable neuromodulator for the treatment of glabellar lines
AI-09 is safe, effective, and reduces wrinkles for up to 6 months.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Efficacy and safety of a novel anti‐HER2 therapeutic antibody RC48 in patients with HER2‐overexpressing, locally advanced or metastatic gastric or gastroesophageal junction cancer: a single‐arm phase II study
RC48 shows promise for treating certain advanced cancers, but more research is needed.
research The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches
Sustained-release sodium valproate is effective in treating epilepsy, with some side effects influenced by genetics.
research Citalopram and finasteride with the lot number FI0510058-A have been voluntarily recalled by Greenstone, after a labelling error
research A review on computer‐aided chemogenomics and drug repositioning for rationalCOVID ‐19 drug discovery
Computer-aided methods can speed up COVID-19 drug discovery and help find new uses for existing drugs.
research Improving the anti-ageing activity of coenzyme Q10 through protransfersome-loaded emulgel
The method improved CoQ10's stability and effectiveness for anti-ageing skincare.
research A new mechanism for resonance Rayleigh scattering detection of minoxidil based on catalytic oxidation of silver nanoparticles
A new, quick method detects minoxidil using silver nanoparticles.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research SIMULTANEOUS QUANTIFICATION OF MINOXIDIL AND FINASTERIDE IN BULK AND PHARMACEUTICAL DOSAGE FORM BY RP-HPLC METHOD
A reliable method was developed to measure Minoxidil and Finasteride accurately in medicines.
research Coenzyme Q10 phospholipidic vesicular formulations for treatment of androgenic alopecia: ex vivo permeation and clinical appraisal
Coenzyme Q10 in nanocarriers improves treatment for hair loss.
research Real-World Ritlecitinib Treatment of Severe Alopecia Areata (AA) in the US: Patient Characteristics and Physician Satisfaction
Ritlecitinib effectively improves hair regrowth and physician satisfaction in severe alopecia areata over time.
research Comparative GC-MS Based In vitro Assays of 5α-Reductase Activity Using Rat Liver S9 Fraction
The S9 fraction with GC-IDMS is effective for measuring 5α-reductase activity.
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 Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research QbD-Enabled Development of Quercetin Dihydrate-Loaded Nanostructured Lipid Carriers: In vitro Characterization, Safety and Efficacy Assessment in Androgenetic Alopecia Mice Model
research Quintaquinone, a Merosesquiterpene from the Yellow Sponge Verongula cf. rigida Esper
A new compound from a sponge strongly inhibits an enzyme linked to male-pattern hair loss without being toxic at low levels.
research A computer‐aided drug repurposing: the antibacterial agents targeting GroEL
Daprodustat, combined with PAβN, could be a new antibacterial treatment.
research Simultaneous spectrophotometric determination of minoxidil and tretinoin by the H-point standard addition method and partial least squares
Both HPSAM and PLS methods accurately measure minoxidil and tretinoin concentrations.
research Computer physics communications instructions to authors (third revision)
research Efficacy and Safety of Switching from Baricitinib to Ritlecitinib in Severe Alopecia Areata
Switching to ritlecitinib improves hair regrowth and well-being in severe alopecia areata patients.
research Structure-guided manipulation of the regioselectivity of the cyclosporine A hydroxylase CYP-sb21 from Sebekia benihana
Scientists improved an enzyme to better produce a hair growth-promoting chemical from an immunosuppressant.
research Pediatric Clinical Trial Program in Progress: A Phase 3 Study and Long-term Extension Study to Evaluate the Efficacy and Safety of Ritlecitinib in Children 6 to <12 years of Age With Severe Alopecia Areata
Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.