Results 51 to 60 of about 37,810 (312)
Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa +5 more
doaj +1 more source
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source
In maize, the bHLH transcription factor ZmbHLH118 directly binds to the promoter of ZmCLCa and inhibits its expression. Tonoplast‐localized ZmCLCa mediates NO3− influx into the vacuole to regulate intracellular NO3− homeostasis, modulating nitrate uptake and metabolism, plant growth, and grain yield.
Chaonan Zhang +13 more
wiley +1 more source
A Guide for Spatial Omics Technologies: Innovation, Evaluation, and Application
This review presents a strategy‐centric framework for spatial omics technologies, organizing methods by how spatial information is experimentally encoded. It compares key performance trade‐offs across sequencing‐ and imaging‐based approaches, examines computational and practical limitations, and highlights biomedical applications. The analysis provides
Xiaofeng Wu +5 more
wiley +1 more source
Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay
Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez +6 more
doaj +1 more source
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak +14 more
core +3 more sources
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling +17 more
wiley +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
doaj +1 more source
LABRAD : Vol 41, Issue 3 - December 2015 [PDF]
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core +1 more source

