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research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research A mechanism-informed deep neural network enables prioritization of regulators that drive cell state transitions
A new neural network helps identify key regulators in cell changes, aiding in understanding diseases and finding new treatments.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Feedback between PI4P signaling and ER-PM contact sites orchestrates polarized root hair growth
research PROCEEDİNGS OF THE FIRST INTERNATIONAL SCIENTIFIC PRACTICAL ONLINE CONFERENCE HUMAN GENETICS AND GENETIC DISEASES: PROBLEMS AND DEVELOPMENT PERSPECTIVES
research An overview of current strategies and future prospects in drug repurposing in tuberculosis
Drug repurposing offers promising strategies to improve tuberculosis treatment despite challenges.
research DRUG POLYMORPHISM IDENTIFICATION USING FOURIER TRANSFORM-RAMAN SPECTROSCOPY: A COMPARATIVE STUDY OF LAMIVUDINE AND FINASTERIDE DRUGS
FT-Raman spectroscopy is effective for identifying drug polymorphs, ensuring quality and stability.
research The anti wrinkle efficacy of synthetic hexapeptide (Argireline) in Chinese Subjects
Argireline significantly reduces wrinkles.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Farmácia Militar do Laboratório Nacional do Medicamento, Porto e Serviços Farmacêuticos do Centro Hospitalar Universitário do Porto (Hospital de Santo António), EPE, Porto
Pharmacists play a crucial role in patient care and optimizing treatment outcomes.
research 5α-Reductase Inhibitors and Chemoprevention: The PCPT and Beyond
5α-reductase inhibitors can reduce prostate cancer risk but may increase high-grade tumors, needing more research.
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 Hacia una oscuridad luminosa de las circunstancias
Cornifin-alpha/SPRR1 is increased in certain skin conditions and by specific treatments.
research Responsive Microneedles as a New Platform for Precision Immunotherapy
Microneedles can precisely deliver cancer treatments with fewer side effects.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Author response: Structural basis of malodour precursor transport in the human axilla
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
research Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
research Understanding the Epidemiology, Natural History, and Key Pathways Involved in Prostate Cancer
Prostate cancer was a major health issue in 2009, especially for Black men, and targeting the 5alpha-reductase enzyme could help in its prevention and treatment.
research Advancing PROTAC therapeutics through chemistry-guided design of smart delivery systems
Improving PROTAC delivery systems can enhance their effectiveness and speed up their use in medicine.
research Synthesis and Evaluation of 2‘-Substituted 4-(4‘-Carboxy- or 4‘-carboxymethylbenzylidene)-N-acylpiperidines: Highly Potent and in Vivo Active Steroid 5α-Reductase Type 2 Inhibitors
Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Accessing Properties of Molecular Compounds Involved in Cellular Metabolic Processes with Electron Paramagnetic Resonance, Raman Spectroscopy, and Differential Scanning Calorimetry
These methods help understand cell structures and reactions.
research Development of an aequorin-based assay for the screening of corticotropin-releasing factor receptor antagonists
The new assay can help develop products for hair re-growth.
research Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.
Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research Reply to “Regarding the risk factors of rituximab‐induced thrombocytopenia in patients with autoimmune bullous diseases”
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.