Huge genetic diversity among Papuan New Guinean peoples revealed
Immunotherapy treatment option for selected breast cancer patients, genetic study suggests
Immunotherapy drugs could help some breast cancer patients based on the genetic changes in their tumours, researchers at the Wellcome Trust Sanger Institute and their collaborators find. Published today (13 September 2017) in Cancer Research, scientists identify particular genetic changes in a DNA repair mechanism in breast cancer.
Type 2 diabetes is being misdiagnosed in African Americans, genetic study suggests
One of the tests used to diagnose type 2 diabetes and monitor blood sugar control is influenced by 60 genetic variants, an international team of scientists, including those from the Wellcome Trust Sanger Institute, has found. One genetic variant in particular, found only in African Americans, significantly reduces the accuracy of the HbA1c blood test used to diagnose and monitor the condition. This means around 650,000 African Americans in the US could have undiagnosed type 2 diabetes if tested with the HbA1c test alone.
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The Helicase Aquarius/EMB-4 Is Required to Overcome Intronic Barriers to Allow Nuclear RNAi Pathways to Heritably Silence Transcription.
Developmental cell 2017;42;3;241-255.e6
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Journal of medical genetics 2017;54;8;537-543
Epigenetic germline inheritance in mammals: Looking to the past to understand the future.
Genes, brain, and behavior 2017
Morphology, topology and dimensions of the heart and arteries of genetically normal and mutant mouse embryos at stages S21-S23.
Journal of anatomy 2017
Circulating and Tissue-resident CD4+ T Cells With Reactivity to Intestinal Microbiota Are Abundant in Healthy Individuals and Function is Altered During Inflammation.
Molecular epidemiology of Klebsiella pneumoniae invasive infections over a decade at Kilifi County Hospital in Kenya.
International journal of medical microbiology : IJMM 2017
Nature reviews. Microbiology 2017;15;9;516
Optimised metrics for CRISPR-KO screens with second-generation gRNA libraries.
Scientific reports 2017;7;1;7384
Human Germline Genome Editing.
American journal of human genetics 2017;101;2;167-176
NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
The Journal of clinical investigation 2017;127;9;3521-3526