American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Maladaptive somatic gene rescue as predisposition to JAK2 molecular abnormalities? Insights from an Israeli family. [PDF]
Ann HematolBorsani O, Gurnari C, Pietra D, Rumi E.
europepmc +1 more source
How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results?:A UK-based qualitative interview study [PDF]
, 2011 Douglas, Margaret +6 more
core +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley +1 more source
Association between healthy plant-based diet-lifestyle (hPDI-Lifestyle) score and incidence of coronary heart disease, and effect modification by genetic predisposition: a prospective analysis in a population-based cohort. [PDF]
Lancet Reg Health EurWang XJ +7 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source
Modifying genetic susceptibility to coronary heart disease through an integrated plant-based diet-lifestyle. [PDF]
Lancet Reg Health EurGutiérrez Mariscal FM, Miranda JL.
europepmc +1 more source
Genetic predisposition to alcoholic liver disease. [PDF]
Gut, 1992 C P, Day, M F, Bassendine
openaire +2 more sources