Results 131 to 140 of about 838,175 (338)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Transforming Pancreatic Cancer Diagnosis: Conventional Methods, Challenges, and Future Innovations
ExonPancreatic ductal adenocarcinoma (PDAC) is a well-known neoplasm that currently ranks seventh in cancer-related deaths worldwide and may occupy the second position by 2030.
Namita Sharma, Sudha Srivastava
doaj +1 more source
Cell Research, 2013 Although the function of DNA methylation in gene promoter regions is well established in transcriptional repression, the function of the evolutionarily conserved widespread distribution of DNA methylation in gene body regions remains incompletely ...
Alika K. Maunakea +3 more
semanticscholar +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
ExonIntroduction: This research is on the statistical analysis of cataract disease between male and female patients. The objectives were to estimate the distribution of cataract disease over the years with respect to gender and measures the rate of patients ...
Ligeiaziba Sylva +2 more
doaj +1 more source
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]
, 2019 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W +19 more
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
ExonMpox, a viral zoonotic disease similar to smallpox, poses significant public health challenges, particularly in Africa, with recent outbreaks in regions like India emphasising its global threat.
Anishkiran Balasundar +1 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Edible coatings for enhancing the shelf-life of foods: meaningful or myth
ExonIn the current landscape, effective food management poses significant challenges, particularly in ensuring access to healthy, nutritious diets. Proper handling of food materials during post-harvest stages such as harvesting, packaging, transportation ...
Venkteshwar Yadav +2 more
doaj +1 more source