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 …

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 …

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 …

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 …

Zebrafish as a model for drug screening in genetic kidney diseases

J Gehrig, G Pandey, JH Westhoff - Frontiers in Pediatrics, 2018 - frontiersin.org
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 …

Cilia and coordination of signaling networks during heart development

K Koefoed, IR Veland, LB Pedersen, LA Larsen… - …, 2014 - Taylor & Francis
Primary cilia are unique sensory organelles that coordinate a wide variety of different
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 …

The roles of primary cilia in cardiovascular diseases

R Pala, M Jamal, Q Alshammari, SM Nauli - Cells, 2018 - mdpi.com
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 …

Congenital heart disease: emerging themes linking genetics and development

S Yuan, S Zaidi, M Brueckner - Current opinion in genetics & development, 2013 - Elsevier
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 …

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 …