Of mice and men: molecular genetics of congenital heart disease
TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …
which may be caused by multiple genetic and environmental factors. Studies in human …
Aortic coarctation
YY Kim, L Andrade, SC Cook - Cardiology clinics, 2020 - cardiology.theclinics.com
Aortic coarctation accounts for 6% to 8% of all congenital heart disease 1 and occurs with an
incidence of 3 to 4 cases out of 10,000 live births with a male predominance of 2: 1. 2 It is …
incidence of 3 to 4 cases out of 10,000 live births with a male predominance of 2: 1. 2 It is …
Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing
Alternatively activated “M2” macrophages are believed to function during late stages of
wound healing, behaving in an anti-inflammatory manner to mediate the resolution of the …
wound healing, behaving in an anti-inflammatory manner to mediate the resolution of the …
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
F Quintero-Rivera, QJ **… - Human molecular …, 2015 - academic.oup.com
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous
subset of congenital heart disease for which gene identification has been difficult. We …
subset of congenital heart disease for which gene identification has been difficult. We …
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta
T Bjornsson, RB Thorolfsdottir… - European heart …, 2018 - academic.oup.com
Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs)
and confers substantial morbidity despite treatment. It is increasingly recognized as a highly …
and confers substantial morbidity despite treatment. It is increasingly recognized as a highly …
Genetic basis of congenital cardiovascular malformations
SR Lalani, JW Belmont - European journal of medical genetics, 2014 - Elsevier
Cardiovascular malformations are a singularly important class of birth defects and due to
dramatic improvements in medical and surgical care, there are now large numbers of adult …
dramatic improvements in medical and surgical care, there are now large numbers of adult …
Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur
L Zhang, N Leonard, R Passaro, MS Luan… - Nature …, 2024 - nature.com
Many mammal species have declining populations, but the consequences of small
population size on the genomic makeup of species remain largely unknown. We …
population size on the genomic makeup of species remain largely unknown. We …
Genetic etiology of left‐sided obstructive heart lesions: a story in development
LE Parker, AP Landstrom - Journal of the American Heart …, 2021 - Am Heart Assoc
Congenital heart disease is the most common congenital defect observed in newborns.
Within the spectrum of congenital heart disease are left‐sided obstructive lesions (LSOLs) …
Within the spectrum of congenital heart disease are left‐sided obstructive lesions (LSOLs) …
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery
DM Gordon, D Cunningham, G Zender… - PLoS …, 2022 - journals.plos.org
Congenital heart disease (CHD) is a common group of birth defects with a strong genetic
contribution to their etiology, but historically the diagnostic yield from exome studies of …
contribution to their etiology, but historically the diagnostic yield from exome studies of …
Pathology and molecular mechanisms of coarctation of the aorta and its association with the ductus arteriosus
Coarctation of the aorta (CoA) is defined as a congenital stenosis of the thoracic aorta and is
one of the most common congenital cardiovascular diseases. Despite successful surgical …
one of the most common congenital cardiovascular diseases. Despite successful surgical …