Results 91 to 100 of about 114,349,436 (308)
In vitro assessments for the prediction of pharmacokinetic (PK) behavior of biotherapeutics can help identify corresponding liabilities significantly earlier in the discovery timeline.
Tushar Jain +14 more
doaj +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
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
Decision trees to characterise the roles of permeability and solubility on the prediction of oral absorption. [PDF]
Oral absorption depends on many physiological, physiochemical and formulation factors. Two important properties that govern oral absorption are in vitro permeability and solubility, which are commonly used as indicators of human intestinal absorption ...
Newby, Danielle +6 more
core +1 more source
Concetta Cafiero,1,* Agnese Re,2,* Alessandra Micera,3,* Raffaele Palmirotta,4 Delio Monaco,5 Francesca Romano,6 Claudia Fabrizio,7 Raffaele Di Francia,8 Andrea Cacciamani,3 Pier Luigi Surico,9 Gerardo D’Amato,10 Salvatore Pisconti1 1Medical ...
Cafiero C +11 more
doaj
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
In silico prediction of heme binding in proteins [PDF]
The process of heme binding to a protein is prevalent in almost all forms of life to control many important biological properties, such as O2-binding, electron transfer, gas sensing or to build catalytic power. In these cases, heme typically binds tightly (irreversibly) to a protein in a discrete heme binding pocket, with one or two heme ligands ...
Marson N +4 more
europepmc +4 more sources
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
in-silico-uce-probes-to-contigs.lastz.tar.gz
LASTZ files showing mapping of UCE probes onto in silico genome slices AND probe.matches.sqlite ...
Brant C. Faircloth (143432) +7 more
core +1 more source
Report of In Silico Prediction of Ovalbumin Hydrolysis by Pepsin
This report details an in silico prediction of ovalbumin hydrolysis by pepsin, performed using the PeptideCutter tool on the Expasy platform.
Jesús Gilberto Arámburo-Gálvez (16426665) +3 more
core +1 more source
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source

