Results 231 to 240 of about 114,005 (286)
Using non‐invasive nuclear and mitochondrial analysis, this study reveals evidence of introgression in critically endangered Wild Camels (Camelus ferus) from the domestic Bactrian camel (Camelus bactrianus), alongside reduced genetic diversity and higher inbreeding in both in situ and ex situ populations in Mongolia.
Anna M. Jemmett +6 more
wiley +1 more source
Prolonged Cholestatic Hepatitis A With Transient Epstein-Barr Virus IgM Reactivity and Marked Hyperferritinemia in an HFE H63D Heterozygote. [PDF]
Silva SR +4 more
europepmc +1 more source
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais +11 more
wiley +1 more source
Genetic Diversity and Population Structure of <i>Rumex crispus</i> in South Korea Based on Genome-Derived Microsatellite Markers. [PDF]
Kim EH +6 more
europepmc +1 more source
We have developed an integrated mRNA‐based strategy for thalassemia genotyping. Its characteristics included using only three Sanger sequencing reactions to analyze the full‐length coding sequence of HBA2, HBA1 and HBB, and employing a new multiple quantitative fluorescence PCR to simply assess and present the impact of common mutations on the ...
Hongjian Chen, Qi Yao, Mianai Fu
wiley +1 more source
Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure. [PDF]
Householder S +6 more
europepmc +1 more source
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese +14 more
wiley +1 more source
Production of immune receptor knockout chickens via direct <i>in vivo</i> transfection of primordial germ cells. [PDF]
Jenkins K +11 more
europepmc +1 more source
Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun +15 more
wiley +1 more source

