Results 101 to 110 of about 52,020 (257)
Indian Journal of Endocrinology and Metabolism, 2016 Context: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids ...
Reza Najafi +4 more
doaj +1 more source
Advanced Science, EarlyView.This study demonstrates significantly reduced Lkb1 expression in CD11c+ cells in chronic pancreatitis (CP) patients and animal models. Lkb1 deletion enhances CD11c+CD206+ macrophage infiltration and reprograms pancreatic stellate cells (PSCs) via OSM signaling.
Wenqing Zhang +10 more
wiley +1 more source
Advanced Science, EarlyView.The TopCas platform utilizes an engineered DNA‐RNA chimeric circular crRNA to establish topology‐gated control over CRISPR‐Cas12a activity, enabling target‐triggered self‐catalytic amplification (preamplification‐free). This system seamlessly integrates highly sensitive molecular diagnostics with conditionally controlled gene editing, demonstrating ...
Shun Zhang +7 more
wiley +1 more source
Multicyclic D‐Stereospecific Hydrolase Dimer With High Sustained Activity
Angewandte Chemie, EarlyView.Protein macrocyclization was applied to a thermally unstable D‐stereospecific hydrolase using in situ cyclization of proteins (INCYPRO). This site‐specific cross‐linking approach enhanced the resistance of the enzyme to heat and cosolvents.
Anissa Haim +10 more
wiley +2 more sources
Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches
BioMedInformaticsBackground: Runs of homozygosity (ROHs), continuous homozygous regions across the genome, are often linked to consanguinity, with their size and frequency reflecting shared parental ancestry.
Susana Valente +8 more
doaj +1 more source
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]
, 2006 We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C +10 more
core
Annals of Gastroenterological Surgery, EarlyView.In a single‐center cohort of 577 adult LDLT recipients who underwent simultaneous splenectomy, clinically significant SFSS grade B/C (ILTS‐iLDLT‐LTSI 2023) occurred in 18.2% and was associated with inferior graft survival. Multivariate analysis identified MELD ≥ 30, NLR ≥ 4.5, and donor age ≥ 50 years as independent risk factors, which risk rising ...
Kyohei Yugawa +6 more
wiley +1 more source
The 10–23 DNAzyme in Biosensing and Diagnostics: Applications, Challenges, and Future Directions
Angewandte Chemie, EarlyView.This review focuses on the 10–23 DNAzyme in diagnostics, spanning unregulated and regulated target‐recognition modes, and their functionalization across colorimetric, fluorescent, electrochemical, electrochemiluminescent, and intracellular biosensing strategies.
Connor Nurmi +5 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
Down syndrome and consanguinity
Journal of Research in Medical Sciences, 2013 Background: Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome.
Amir Akhavan Rezayat +6 more
doaj