Detection of pathogenic genetic variants in early-onset atrial fibrillation
1. Genetic testing in patients with early-onset atrial fibrillation, via major commercial arrhythmia and cardiomyopathy gene panels, were able to ...
Tag: genetic mutation
Recombinant viral vector treatment sustains endogenous factor IX activity in patients with hemophilia B
1. A one-time infusion of a recombinant viral vector with a highly expressed factor IX gene resulted in sustained endogenous ...
Prenatal pollution exposure linked to decreased telomere length
1. In this prospective analysis, prenatal exposure to environmental pollution was associated with decreased telomere length in newborns. 2. The ...
Congenital heart surgery in trisomy 13 and 18 linked to decreased inpatient mortality
1. Congenital heart surgery (CHS) in patients with trisomy 13 (T13) and trisomy 18 (T18) was significantly associated with a ...
![Reduced neuronal BRCA1 associated with decreased DNA repair in Alzheimer’s disease [PreClinical]](https://www.2minutemedicine.com/wp-content/uploads/2015/12/DNA_Furchen_edited-350x250.png)
Higher incidence of germline DNA-repair mutations in men with metastatic prostate cancer
1. Men with metastatic prostate cancer had a significantly higher incidence of germline mutations mediating DNA-repair processes compared to men ...
Whole exome sequencing effective at identifying mitochondrial pathogenic mutations
1. The genomic basis of mitochondrial disease is often abstruse and multifactorial. 2. Whole-exome sequencing was able to pinpoint previously ...
Complement mutation linked to poor response to eculizumab
Image: CC/Wiki/Uthman 1. Paroxysmal nocturnal hemoglobinuria (PNH) patients with poor response to eculizumab were found to have a mutation in complement ...