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UnknownImpact of intermittent lead exposure on hominid brain evolution.
Gene-environmental interactions shape the evolution of brain architecture and function. Neuro-oncological ventral antigen 1 (NOVA1) is one gene that distinguishes modern humans from extinct hominids. However, the evolutionary pressures that selected the modern NOVA1 allele remain elusi...
S-EPMC12527068 | biostudies-literature
UnknownEfficacy and Safety of Degludec versus Glargine in Type 2 Diabetes.

Background

Degludec is an ultralong-acting, once-daily basal insulin that is approved for use in adults, adolescents, and children with diabetes. Previous open-label studies have shown lower day-to-day variability in the glucose-lowering effect and lower rates of hypoglycemia among patients ...
S-EPMC5731244 | biostudies-literature
UnknownRare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Importance

Stroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These varian...
S-EPMC4673986 | biostudies-literature
UnknownLongitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12.

Purpose

To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability.

Design

Multicenter, international, prospective cohort study.

Methods

Fixation testing was performed using the Nidek MP-1 microperimeter as part of the prospec...
S-EPMC7083180 | biostudies-literature
UnknownDetailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Background/aims

To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency.

Methods

345 participants with a clinical...
S-EPMC6579578 | biostudies-literature
UnknownRecurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thor...
S-EPMC3738837 | biostudies-literature
UnknownExome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance. When MI occurs early in life, genetic inheritance is a major component to risk. Previously, rare mutations in low-density lipoprotein (LDL) genes have been shown to contribute to MI risk...
S-EPMC4319990 | biostudies-literature
UnknownExome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Exome sequencing has become a powerful and effective strategy for the discovery of genes underlying Mendelian disorders. However, use of exome sequencing to identify variants associated with complex traits has been more challenging, partly because the sample sizes needed for adequate power may be ve...
S-EPMC3702264 | biostudies-literature
UnknownCommon and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Several rare European von Willebrand disease missense variants of VWF (including p.Arg2185Gln and p.His817Gln) were recently reported to be common in apparently healthy African Americans (AAs). Using data from the NHLBI Exome Sequencing Project, we assessed the association of these and other VWF cod...
S-EPMC3724194 | biostudies-literature
UnknownTGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identifi...
S-EPMC4033668 | biostudies-literature
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