A functional genetic study identifies HAND1 mutations in septation defects of the human heart
SM Reamon-Buettner, Y Ciribilli… - Human molecular …, 2009 - academic.oup.com
Heart and neural crest derivatives expressed 1 (HAND1) is a basic helix-loop-helix (bHLH)
transcription factor essential for mammalian heart development. Absence of Hand1 in mice …
transcription factor essential for mammalian heart development. Absence of Hand1 in mice …
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
SM Reamon-Buettner, Y Ciribilli, A Inga… - Human molecular …, 2008 - academic.oup.com
Hypoplasia of the human heart is the most severe form of congenital heart disease (CHD)
and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in …
and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in …
Two novel HAND1 mutations in Chinese patients with ventricular septal defect
Z Cheng, L Lib, Z Li, M Liu, J Yan, B Wang, X Ma - Clinica Chimica Acta, 2012 - Elsevier
BACKGROUND: The HAND1 gene encodes a basic helix–loop–helix (bHLH) transcription
factor which plays an essential role in the development of heart. Mutations in HAND1 have …
factor which plays an essential role in the development of heart. Mutations in HAND1 have …
The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice
BA Firulli, KP Toolan, J Harkin, H Millar… - Cardiovascular …, 2017 - academic.oup.com
Aims To test if a human Hand1 frame shift mutation identified in human samples is causative
of hypoplastic left heart syndrome (HLHS). Methods and results HLHS is a poorly …
of hypoplastic left heart syndrome (HLHS). Methods and results HLHS is a poorly …
[HTML][HTML] A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot
CX Lu, HR Gong, XY Liu, J Wang… - International …, 2016 - spandidos-publications.com
Congenital heart disease (CHD), the most common type of developmental abnormality, is
associated with substantial morbidity and mortality in humans worldwide. The basic helix …
associated with substantial morbidity and mortality in humans worldwide. The basic helix …
The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner
DG McFadden, AC Barbosa, JA Richardson… - 2005 - journals.biologists.com
The basic helix-loop-helix transcription factors Hand1 and Hand2 display dynamic and
spatially restricted expression patterns in the developing heart. Mice that lack Hand2 die at …
spatially restricted expression patterns in the developing heart. Mice that lack Hand2 die at …
HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure
BA Firulli, RM George, J Harkin, KP Toolan… - Cardiovascular …, 2020 - academic.oup.com
Aims To examine the role of the basic Helix-loop-Helix (bHLH) transcription factor HAND1 in
embryonic and adult myocardium. Methods and results Hand1 is expressed within the …
embryonic and adult myocardium. Methods and results Hand1 is expressed within the …
Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects
JW Vincentz, RM Barnes… - Birth Defects Research Part …, 2011 - Wiley Online Library
Almost 15 years of careful study have established the related basic Helix‐Loop‐Helix
(bHLH) transcription factors Hand1 and Hand2 as critical for heart development across …
(bHLH) transcription factors Hand1 and Hand2 as critical for heart development across …
Transcription factorHAND2mutations in sporadic Chinese patients with congenital heart disease
S Lei, X Li, A Shen, W Qiang, C Liu, Y Guo… - Chinese medical …, 2010 - journals.lww.com
Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in
cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart …
cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart …
HAND2 loss-of-function mutation causes familial dilated cardiomyopathy
H Liu, YJ Xu, RG Li, ZS Wang, M Zhang, XK Qu… - European Journal of …, 2019 - Elsevier
As two members of the basic helix-loop-helix family of transcription factors, HAND1 and
HAND2 are both required for the embryonic cardiogenesis and postnatal ventricular …
HAND2 are both required for the embryonic cardiogenesis and postnatal ventricular …