A Novel 10‐Protein Score for Liver Fat Content Predicts Cardiovascular‐Kidney‐Metabolic Disease Risk
Advanced Science, EarlyView.A novel 10‐protein plasma score precisely quantifies liver fat, outperforming the fatty liver index. It robustly predicts the risk of numerous cardiovascular‐kidney‐metabolic diseases and integrates with genetic data for precision prevention, offering a practical alternative to magnetic resonance imaging (MRI). Abstract Liver fat content (LFC) is a key
Xiaoqin Gan +12 more
wiley +1 more source
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
core +5 more sources
Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. [PDF]
, 2019 The horse reference genome from the Thoroughbred mare Twilight has been available for a decade and, together with advances in genomics technologies, has led to unparalleled developments in equine genomics.
Bellone, R +3 more
core +2 more sources
American Journal of Hematology, EarlyView.A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova +10 more
wiley +1 more source
A nuclear-encoded endonuclease governs the paternal transmission of mitochondria in Cucumis plants
Nature CommunicationsNon-Mendelian transmission of mitochondria has been well established across most eukaryotes, however the genetic mechanism that governs this uniparental inheritance remains unclear.
Jia Shen +9 more
doaj +1 more source
Evolutionary Multiplayer Games
, 2014 Evolutionary game theory has become one of the most diverse and far reaching theories in biology. Applications of this theory range from cell dynamics to social evolution.
Gokhale, Chaitanya S., Traulsen, Arne
core +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
A Method for Calculating Whole-Genome Sequencing Outcomes from Trio Data
AlgorithmsBackground. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets.
Nikita Koltunov +4 more
doaj +1 more source
Resistance to an eriophyid mite in an interspecific hybrid pedigree of Populus. [PDF]
PLoS ONE, 2018 Schizoempodium mesophyllincola is an eriophyid mite that feeds in leaves of Populus trichocarpa in the central part of this cottonwood tree's range (i.e., coastal British Columbia, Washington and Oregon) in the Pacific Northwest (PNW) of North America ...
George Newcombe +2 more
doaj +1 more source
MENDELIAN AND NON-MENDELIAN INHERITANCE OF STREPTOMYCIN RESISTANCE IN CHLAMYDOMONAS REINHARDI [PDF]
Proceedings of the National Academy of Sciences, 1954 Ruth Sager
openalex +4 more sources