Tau: Enabler of diverse brain disorders and target of rapidly evolving therapeutic strategies
BACKGROUND The microtubule-associated protein tau has been implicated in the
pathogenesis of Alzheimer's disease and a range of other neurodegenerative disorders …
pathogenesis of Alzheimer's disease and a range of other neurodegenerative disorders …
Structural variation in the 3D genome
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Tau pathology and neurodegeneration
MG Spillantini, M Goedert - The Lancet Neurology, 2013 - thelancet.com
The pathway leading from soluble and monomeric to hyperphosphorylated, insoluble and
filamentous tau protein is at the centre of many human neurodegenerative diseases …
filamentous tau protein is at the centre of many human neurodegenerative diseases …
[HTML][HTML] Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in …
Background Understanding the genetic basis of airflow obstruction and smoking behaviour
is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD) …
is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD) …
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
JW Trampush, MLZ Yang, J Yu, E Knowles… - Molecular …, 2017 - nature.com
The complex nature of human cognition has resulted in cognitive genomics lagging behind
many other fields in terms of gene discovery using genome-wide association study (GWAS) …
many other fields in terms of gene discovery using genome-wide association study (GWAS) …
The landscape of somatic mutations in Down syndrome–related myeloid disorders
Transient abnormal myelopoiesis (TAM) is a myeloid proliferation resembling acute
megakaryoblastic leukemia (AMKL), mostly affecting perinatal infants with Down syndrome …
megakaryoblastic leukemia (AMKL), mostly affecting perinatal infants with Down syndrome …
A novel Alzheimer disease locus located near the gene encoding tau protein
G Jun, CA Ibrahim-Verbaas, M Vronskaya… - Molecular …, 2016 - nature.com
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask
effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the …
effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the …
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
S Girirajan, MY Dennis, C Baker, M Malig… - The American Journal of …, 2013 - cell.com
Rare copy-number variants (CNVs) have been implicated in autism and intellectual
disability. These variants are large and affect many genes but lack clear specificity toward …
disability. These variants are large and affect many genes but lack clear specificity toward …