Topic · Genetics · Medicine
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
94 papers
Elmutaz Shaikho Elhaj Mohammed, John J. Farrell, David H.K. Chui, Paola Sebastiani B, Martin H. Steinberg
The paper identifies cis- and trans-acting eQTLs influencing HBG2 and HBG1 expression and suggests BCL2L1 as a potential trans-acting HbF activator.
bioRxiv · Apr 20, 2018 · PreprintGenetics
Daniel Shriner, Charles N. Rotimi
The paper uses whole genome sequence data to trace the origin of the sickle allele to the Holocene Wet Phase, showing a single origin and simplifying haplotype classification.
The American Journal of Human Genetics · Mar 8, 2018Peer-reviewedGenetics
Petros Kountouris, Coralea Stephanou, Celeste Bento, Pavlos Fanis, Jacques Élion, Raj Ramesar, Bin Alwi Zilfalil, Helen M Robinson, Joanne Traeger‐Synodinos, Human Variome Project Global Globin 2020 Challenge, Carsten Werner Lederer, Marina Kleanthous
ITHANET is a community portal that integrates information and databases on haemoglobinopathies, providing annotated variations, epidemiological data, and diagnostic reports.
bioRxiv · Oct 31, 2017 · PreprintBioinformatics
Hyacinth I. Hyacinth, Courtney L Sugihara, Thomas Lee Spencer, David R. Archer, Andy Y. Shih
This study shows that aged SCD mice develop cerebral vasculopathy features seen in humans, with increased RBC velocity, occlusive events, and microinfarcts detected via in vivo two-photon imaging.
Journal of Cerebral Blood Flow & Metabolism · Sep 19, 2017Peer-reviewedNeuroscience