Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Healthy human aging: intrinsic and environmental factors
VC Sgarbieri, MTB Pacheco - Brazilian Journal of Food Technology, 2017 - SciELO Brasil
This review is an attempt to compile current knowledge on concepts and transformations that
occur naturally in the human body and that characterize what is defined today as biological …
occur naturally in the human body and that characterize what is defined today as biological …
Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
MS Naslavsky, GL Yamamoto, TF de Almeida… - Human …, 2017 - Wiley Online Library
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …
still underrepresented in genomic databanks. We hereby present a collection of exomic …
Medical implications of technical accuracy in genome sequencing
Background As whole exome sequencing (WES) and whole genome sequencing (WGS)
transition from research tools to clinical diagnostic tests, it is increasingly critical for …
transition from research tools to clinical diagnostic tests, it is increasingly critical for …
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest
that high penetrance de novo mutations may account for only a small fraction of disease. In a …
that high penetrance de novo mutations may account for only a small fraction of disease. In a …
Early somatic mosaicism is a rare cause of long-QT syndrome
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages
after fertilization, is increasingly recognized to play a causal role in a variety of human …
after fertilization, is increasingly recognized to play a causal role in a variety of human …
High-frequency actionable pathogenic exome variants in an average-risk cohort
S Rego, O Dagan-Rosenfeld… - Molecular …, 2018 - molecularcasestudies.cshlp.org
Exome sequencing is increasingly utilized in both clinical and nonclinical settings, but little is
known about its utility in healthy individuals. Most previous studies on this topic have …
known about its utility in healthy individuals. Most previous studies on this topic have …
Molecular Diversity of Plasma Membrane Ca2+ Transporting ATPases: Their Function Under Normal and Pathological Conditions
Abstract Plasma membrane Ca 2+ transport ATPases (PMCA1-4, ATP2B1-4) are
responsible for removing excess Ca 2+ from the cell in order to keep the cytosolic Ca 2+ ion …
responsible for removing excess Ca 2+ from the cell in order to keep the cytosolic Ca 2+ ion …
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
E Helle, A Córdova‐Palomera, T Ojala… - Genetic …, 2019 - Wiley Online Library
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects
(LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for …
(LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for …