Results 111 to 120 of about 17,663 (259)
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Revolutionizing Healthcare With Paper‐Based Nucleic Acid Testing
Exploration, EarlyView.This work summarizes strategies to enhance paper‐based devices for nucleic acid testing. Key approaches include optimizing paper platforms, improving nucleic acid amplification, and refining labeling/signaling methods. These advancements aim to boost sensitivity, speed, and usability, making paper‐based diagnostics more effective for point‐of‐care ...
Hong Zhang +8 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade +5 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn +2 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas +41 more
wiley +1 more source
Oncogenic KRAS Rewires Stress Granule Dynamics: Mechanisms and Therapeutic Opportunities
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Stress granules (SGs) are dynamic, membrane‐less structures that form in response to various cellular stresses, including metabolic, oxidative, and therapeutic challenges. They function as adaptive hubs and reorganize protein synthesis and signaling networks to help cells survive under stress. In cancer, these condensates are often hijacked to
Msimisi Ndzinisa +2 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Aims We report 5‐year results from a phase 1/2a study of delandistrogene moxeparvovec, a recombinant adeno‐associated virus serotype rh74 vector‐based gene therapy for Duchenne muscular dystrophy (DMD), with post hoc analyses contextualizing functional outcomes. Methods Four ambulatory patients with DMD (≥ 4–< 8 years at enrollment) entered an
Jerry R. Mendell +10 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source
Proteomic Changes in Cancer Cell Lines as a Result of Bacterial Infection
PROTEOMICS, EarlyView.ABSTRACT Bacterial infections have been implicated in shaping the tumor microenvironment (TME), but their effects on cancer cell proteomes remain unexplored. In this study, we analyzed proteomic changes in melanoma (A375) and ovarian cancer (OVCAR3) cell line models following infection with Staphylococcus aureus strain USA300 or Salmonella enterica ...
Bo Ren +7 more
wiley +1 more source
PLANTS, PEOPLE, PLANET, EarlyView.Climate extremes threaten the sustainability of cranberry production, a culturally and economically important North American crop. This study demonstrates that wild cranberries (Vaccinium oxycoccos) harbor genetic variation that may enhance cold stress resilience when introduced into cultivated cranberry through hybridization.
Audrey Dickinson +5 more
wiley +1 more source