Results 211 to 220 of about 19,235 (265)
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen +16 more
wiley +1 more source
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses. [PDF]
Front Genet, 2019 Wang Y +8 more
europepmc +1 more source
ZSF1 lean rats – How healthy are they?
Animal Models and Experimental Medicine, EarlyView.This study aimed to examine the health status, specifically the physiology and myocardial, vascular, and skeletal muscle function of lean ZSF1 rats by comparing them to age‐ and sex‐matched Wistar rats. Compared to Wistar controls, ZSF1 lean rats exhibited lower body weight, but showed increased heart, and skeletal muscle mass.
Antje Schauer +4 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source
Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge. [PDF]
eNeurologicalSci, 2019 Salgado P +7 more
europepmc +1 more source
A-160 The Clinical Significance of the Glomerular Biomarker Soluble Urokinase-Type Plasminogen Activator Receptor (suPAR) in Renal Function of Caucasian Patients with Compound Heterozygosity for Hb S and ß-Thalassemia [PDF]
Ioannis Papassotiriou +4 more
openalex +1 more source
Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source