Physiology of hyperuricemia and urate-lowering treatments
CL Benn, P Dua, R Gurrell, P Loudon, A Pike… - Frontiers in …, 2018 - frontiersin.org
Gout is the most common form of inflammatory arthritis and is a multifactorial disease
typically characterized by hyperuricemia and monosodium urate crystal deposition …
typically characterized by hyperuricemia and monosodium urate crystal deposition …
Insights into aldehyde dehydrogenase enzymes: a structural perspective
Aldehyde dehydrogenases engage in many cellular functions, however their dysfunction
resulting in accumulation of their substrates can be cytotoxic. ALDHs are responsible for the …
resulting in accumulation of their substrates can be cytotoxic. ALDHs are responsible for the …
The sequences of 150,119 genomes in the UK Biobank
BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
Large-scale whole-genome sequencing of the Icelandic population
DF Gudbjartsson, H Helgason, SA Gudjonsson, F Zink… - Nature …, 2015 - nature.com
Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …
Variant of TREM2 Associated with the Risk of Alzheimer's Disease
Background Sequence variants, including the ε4 allele of apolipoprotein E, have been
associated with the risk of the common late-onset form of Alzheimer's disease. Few rare …
associated with the risk of the common late-onset form of Alzheimer's disease. Few rare …
Rate of de novo mutations and the importance of father's age to disease risk
Mutations generate sequence diversity and provide a substrate for selection. The rate of de
novo mutations is therefore of major importance to evolution. Here we conduct a study of …
novo mutations is therefore of major importance to evolution. Here we conduct a study of …
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
The prevalence of dementia in the Western world in people over the age of 60 has been
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …
An update on the genetics of hyperuricaemia and gout
A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to
the formation of monosodium urate crystals. The clinical features of gout result from an …
the formation of monosodium urate crystals. The clinical features of gout result from an …