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1-4 of 4
Keywords: Congenital heart defects
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Journal Articles
In collection:
Heart Disease
Henrike Berns, Damian Weber, Maximilian Haas, Zeineb Bakey, Magdalena Maria Brislinger-Engelhardt, Miriam Schmidts, Peter Walentek
Journal:
Disease Models & Mechanisms
Dis Model Mech (2025) 18 (5): dmm052211.
Published: 14 May 2025
... presenting with congenital heart defects and renal hypoplasia, with or without laterality defects. The work presented here enhances our understanding of human development and structure-function relationships in Wnt ligands. Summary: We found a new human WNT11 variant and functionally characterized...
Includes: Supplementary data
Journal Articles
eNOS plays essential roles in the developing heart and aorta linked to disruption of Notch signalling
Open AccessIn collection:
Heart Disease
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (1): dmm050265.
Published: 22 January 2024
... pharyngeal arch arteries and ventricles, suggesting that these pathways may be relevant to the defects observed. Dysregulation of eNOS leads to embryonic and perinatal death, suggesting mutations in eNOS are candidates for causing congenital heart defects in humans. Surviving eNOS mutants have a deficiency...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2019) 12 (7): dmm038356.
Published: 9 July 2019
... is shown below: (A) a micro-ultrasound snapshot; (B) a 3D projection with segmented organ contours; and (C) a 3D projection. Heart looping is the first morphological sign of left/right asymmetry in the developing embryo and anomalies in this process are associated with congenital heart defects (see...
Includes: Supplementary data
Journal Articles
The ubiquitin ligase HECTD1 promotes retinoic acid signaling required for development of the aortic arch
Open Access
Journal:
Disease Models & Mechanisms
Dis Model Mech (2019) 12 (1): dmm036491.
Published: 11 January 2019
... and the ductus arteriosus, which connects the aortic arch and pulmonary trunk during fetal development, then closes at birth ( Hiruma et al., 2002 ; Kau et al., 2007 ; Kaufman and Bard, 1999 ; Stewart, 1964 ). Congenital heart defects (CHDs) are the most common structural birth defects in humans...
Includes: Supplementary data