![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)
Reduced neuronal BRCA1 associated with decreased DNA repair in Alzheimer’s disease [PreClinical]
1. In a pre-clinical study of post-mortem brains of Alzheimer’s disease (AD) patients, there was an isolated depletion of neuronal ...
Tag: genetics
California’s cystic fibrosis newborn screening model is highly effective
1. This 5-year review of California’s 3-step model for newborn screening for cystic fibrosis (CF) demonstrated that it is highly ...
High frequency of germline mutations observed in triple negative breast cancers
1. A total of 14.6% of patients with triple negative breast cancers were found to have deleterious mutations in cancer ...
![[CORAL-1 trial] Interferon-free regimen for recurrent hepatitis C after liver transplant safe and effective](https://www.2minutemedicine.com/wp-content/uploads/2014/11/10229_lores-350x250.jpg)
2 Minute Medicine Rewind November 9 – November 16, 2014
In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. An ...
HLA-DRB1*07:01 confirmed as risk factor for lapatinib-induced liver damage
Image: PD 1. HLA-DRB1*07:01 and HLA-DQA1*02:01 are strongly associated with liver injury among patients with HER2+ primary breast cancer taking ...
Mitochondrial DNA variant found in normal-tension glaucoma patients
Image: PD 1. Three mitochondrial genes were found to have significantly different variants among normal-tension glaucoma (NTG) patients compared to ...
New mutations behind heritable hypercalcemia and hypocalcemia identified
Image: PD G protein coupled receptor 1. Loss-of-function mutations in Gɑ11 cause type 2 familial hypocalciuric hypercalcemia. 2. Gain-of-function mutations ...
