The enzymatic activity of inositol hexakisphosphate kinase controls circulating phosphate in mammals
Y Moritoh, S Abe, H Akiyama, A Kobayashi… - Nature …, 2021 - nature.com
Circulating phosphate levels are tightly controlled within a narrow range in mammals. By
using a novel small-molecule inhibitor, we show that the enzymatic activity of inositol …
using a novel small-molecule inhibitor, we show that the enzymatic activity of inositol …
Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis
Background Epidemiological studies have reported conflicting findings on the potential
adverse effects of long-term antihypertensive medication use on cancer risk. Naturally …
adverse effects of long-term antihypertensive medication use on cancer risk. Naturally …
A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes
Conventional human leukocyte antigen (HLA) imputation methods drop their performance
for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic …
for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic …
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians
YJ Kim, S Moon, MY Hwang, S Han, HM Jang… - Nature …, 2022 - nature.com
Metabolic traits are heritable phenotypes widely-used in assessing the risk of various
diseases. We conduct a genome-wide association analysis (GWAS) of nine metabolic traits …
diseases. We conduct a genome-wide association analysis (GWAS) of nine metabolic traits …
Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations
Abstract Detection of Identical-By-Descent (IBD) segments provides a fundamental measure
of genetic relatedness and plays a key role in a wide range of analyses. We develop …
of genetic relatedness and plays a key role in a wide range of analyses. We develop …
[PDF][PDF] Accurate and scalable construction of polygenic scores in large biobank data sets
Accurate construction of polygenic scores (PGS) can enable early diagnosis of diseases and
facilitate the development of personalized medicine. Accurate PGS construction requires …
facilitate the development of personalized medicine. Accurate PGS construction requires …
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
JN Curry, M Saurette, M Askari, L Pei… - The Journal of …, 2020 - Am Soc Clin Investig
The major risk factor for kidney stone disease is idiopathic hypercalciuria. Recent evidence
implicates a role for defective calcium reabsorption in the renal proximal tubule. We …
implicates a role for defective calcium reabsorption in the renal proximal tubule. We …
Mouse models for human hyperuricaemia: a critical review
J Lu, N Dalbeth, H Yin, C Li, TR Merriman… - Nature Reviews …, 2019 - nature.com
Hyperuricaemia (increased serum urate concentration) occurs mainly in higher primates,
including in humans, because of inactivation of the gene encoding uricase during primate …
including in humans, because of inactivation of the gene encoding uricase during primate …
Genome-wide association studies of cardiovascular disease
R Walsh, SJ Jurgens, J Erdmann… - Physiological …, 2023 - journals.physiology.org
Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …
Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics
Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of
Europeans are known to have substantially reduced predictive accuracy in non-European …
Europeans are known to have substantially reduced predictive accuracy in non-European …