research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
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270-300 / 1000+ results research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research 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 PD57-09 NATIONAL SURGICAL QUALITY IMPROVEMENT PROGRAM SURGICAL RISK CALCULATOR POORLY PREDICTS COMPLICATIONS IN PATIENTS UNDERGOING RADICAL CYSTECTOMY WITH URINARY DIVERSION: THE CASE FOR A PROCEDURE-SPECIFIC RISK CALCULATOR
Finasteride use is linked to a lower risk of bladder cancer, especially in Caucasians and Hispanics.
research Development and Validation of Spectrophotometric Method for Determination of Finasteride in Pharmaceutical Formulation Using 1,2-Naphthoquine-4-sulfonate (NQS)
New method accurately measures finasteride in medicine using NQS.
research Erratum to: Squarticles as a Lipid Nanocarrier for Delivering Diphencyprone and Minoxidil to Hair Follicles and Human Dermal Papilla Cells
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
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.
research Erratum
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research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
Drug repositioning is a promising way to quickly develop new treatments, especially for rare diseases.
research Drug Repurposing Patent Applications April–June 2021
Drug repurposing shows promise for treating many medical conditions.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research 43364 Long Term Real-World Patient-Reported Outcomes with Risankizumab in Patients with Moderate to Severe Psoriasis From the CorEvitas Psoriasis Registry
research Synthesis, Crystal Structure and Supramolecular Features of Novel 2,4-Diaminopyrimidine Salts
The salts have diverse molecular packing with significant hydrogen interactions.
research QbD-Enabled Development of Quercetin Dihydrate-Loaded Nanostructured Lipid Carriers: In vitro Characterization, Safety and Efficacy Assessment in Androgenetic Alopecia Mice Model
research The Chinese State Food and Drug Administration has issued Sinovac Biotech a New Drug Certificate approving its split influenza vaccine
China approved Sinovac's flu vaccine, Japan approved RiUP for female hair loss, and Nippon Kayaku's three cancer drugs.
research Yangyin Qingre Huoxue Method in Traditional Chinese Medicine Ameliorates Atherosclerosis in ApoE−/− Mice Suffering from High-Fat Diet and HSP65 Aggression
Yangyin Qingre Huoxue Prescription may help treat atherosclerosis with fewer liver side effects than simvastatin.
research Use of rotary echoes in 2 H
A new method accurately measures molecular movement without complex modeling.
research Pyrene Excimer Nucleic Acid Probes for Biomolecule Signaling
Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research XP Endo Finisher-R and PUI as supplementary methods to remove root filling materials from curved canals
XP-endo Finisher R removes more root filling material than PUI in curved canals.
research Study of the interaction between self-assembling peptide and mangiferin and in vitro release of mangiferin from in situ hydrogel
RADA16-I can effectively deliver and release mangiferin, improving its solubility and bioavailability.
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 Purification and characterization of rat liver minoxidil sulphotransferase
Enzyme purified and characterized for minoxidil sulphation in rat liver.
research Generating Disulfides in Multicellular Organisms: Emerging Roles for a New Flavoprotein Family
QSOX enzymes help form protein bonds in cells, especially in tissues with high secretory activity.
research Harmonic Vibrational Frequency Simulation of Pharmaceutical Molecules via a Novel Multi-Molecular Fragment Interception Method
The new method provides more accurate vibrational frequencies for drug molecules than traditional models.
research Short-term efficacy and safety of valproate sustained-release formulation in newly diagnosed partial epilepsy VIPe-study. A multicenter observational open-label study.
Valproate sustained-release is effective and generally safe for short-term treatment of new partial epilepsy.
research Long-Term Efficacy and Complete Scalp Hair Regrowth in Patients With Alopecia Areata Receiving Ritlecitinib 50 mg QD Up to 3 Years in the ALLEGRO Clinical Trial Program
Ritlecitinib 50 mg effectively promotes and sustains hair regrowth in alopecia areata patients.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.