research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
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research Deimination in epidermal barrier and hair formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
research Canadian Expert Recommendations on Safety Overview and Toxicity Management Strategies for Sacituzumab Govitecan Based on Use in Metastatic Triple-Negative Breast Cancer
Sacituzumab Govitecan is effective for certain breast cancers but requires careful management of side effects.
research [Long-term treatment of virilized women with cyproterone acetate (author's transl)].
Cyproterone acetate effectively treats virilized women, especially under 35, despite some side effects.
research Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody–drug conjugate in breast cancer
Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Steroidogenesis inhibitors alter but do not eliminate androgen synthesis mechanisms during progression to castration-resistance in LNCaP prostate xenografts
Steroidogenesis inhibitors change but don't stop androgen production in prostate cancer.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Proton Affinitive Derivatization for Highly Sensitive Determination of Testosterone and Dihydrotestosterone in Saliva Samples by LC-ESI-MS/MS
Using 5-butylpicolinate esters improves the sensitivity and reliability of detecting testosterone and dihydrotestosterone in saliva.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research A Connection between the Mitochondrial Permeability Transition Pore, Autophagy, and Cerebral Amyloidogenesis
Dutasteride may help reduce brain plaque linked to Alzheimer's by affecting cell energy structures and waste removal.
research Intramembrane Proteolysis of Astrotactins
Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
research Methylated CpG dinucleotides in 5-α reductase 2 gene might explain the finasteride-resistance in BPE patients
Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
research ECULIZUMAB IN THE MANAGEMENT OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME WITH MULTIORGAN INVOLVEMENT: A CASE REPORT
Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research PEG-Immobilized Keratin for Protein Drug Sequestration and pH-Mediated Delivery
PEG and keratin scaffolds can effectively deliver protein drugs by controlling release based on pH levels.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research TSPO activation modulates the effects of high pressure in a rat ex vivo glaucoma model
Activating TSPO helps protect the retina from damage caused by high eye pressure in glaucoma.
research Identification of Metabolites for the Novel 5α‐Reductase Inhibitor Epristeride In Vitro and Its Potential Impact on Doping Testing
Epristeride's metabolism involves key metabolites and proteins, affecting its use in doping tests.
research Virtual Bioequivalence Assessment of Ritlecitinib Capsules with Incorporation of Observed Clinical Variability Using a Physiologically Based Pharmacokinetic Model
50-mg ritlecitinib capsules are bioequivalent to 100-mg capsules.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Cyproterone Acetate: A Genotoxic Carcinogen?
Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
research Production of 5α-Reduced Neurosteroids Is Developmentally Regulated and Shapes GABAAMiniature IPSCs in Lamina II of the Spinal Cord
Neurosteroids regulate synaptic inhibition in the spinal cord and may help manage spinal pain.
research Elucidating the roles of three β-glucuronosyltransferases (GLCATs) acting on arabinogalactan-proteins using a CRISPR-Cas9 multiplexing approach in Arabidopsis
The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis
Disrupted cysteine metabolism may cause hair breakage in Alopecia Areata, suggesting potential treatments like N-acetylcysteine.