Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
Genetics of congenital heart disease: the glass half empty
AC Fahed, BD Gelb, JG Seidman… - Circulation research, 2013 - Am Heart Assoc
Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …
babies. Cardiac malformations have been produced in multiple experimental animal …
A change of heart: new roles for cilia in cardiac development and disease
L Djenoune, K Berg, M Brueckner… - Nature Reviews Cardiology, 2022 - nature.com
Although cardiac abnormalities have been observed in a growing class of human disorders
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …
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 …
Zebrafish as a model for drug screening in genetic kidney diseases
Genetic disorders account for a wide range of renal diseases emerging during childhood
and adolescence. Due to the utilization of modern biochemical and biomedical techniques …
and adolescence. Due to the utilization of modern biochemical and biomedical techniques …
Cilia and coordination of signaling networks during heart development
Primary cilia are unique sensory organelles that coordinate a wide variety of different
signaling pathways to control cellular processes during development and in tissue …
signaling pathways to control cellular processes during development and in tissue …
Genetic basis of human left–right asymmetry disorders
H Deng, H Xia, S Deng - Expert reviews in molecular medicine, 2014 - cambridge.org
Humans and other vertebrates exhibit left–right (LR) asymmetric arrangement of the internal
organs, and failure to establish normal LR asymmetry leads to internal laterality disorders …
organs, and failure to establish normal LR asymmetry leads to internal laterality disorders …
The roles of primary cilia in cardiovascular diseases
Primary cilia are microtubule-based organelles found in most mammalian cell types. Cilia
act as sensory organelles that transmit extracellular clues into intracellular signals for …
act as sensory organelles that transmit extracellular clues into intracellular signals for …
Congenital heart disease: emerging themes linking genetics and development
Although congenital heart disease (CHD) is the most common survivable birth defect, the
etiology of most CHD remains unclear. Several lines of evidence from humans and …
etiology of most CHD remains unclear. Several lines of evidence from humans and …
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
JMF Sallum, FL Motta, G Arno… - American Journal of …, 2020 - Wiley Online Library
Leber congenital amaurosis (LCA) and early‐onset retinal dystrophy (EORD) are severe
inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of …
inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of …