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Journal Articles

Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

In collection:

Drosophila as a Disease Model , Heart Disease

TyAnna L. Lovato, Brenna Blotz, Cayleen Bileckyj, Christopher A. Johnston, Richard M. Cripps

Dis Model Mech (2023) 16 (9): dmm050059.

https://doi.org/10.1242/dmm.050059

Published: 29 September 2023

... a variant of unknown significance in the human congenital heart disease gene NKX2.5 (also known as NKX2-5 ). We generated an R321N allele of the NKX2.5 ortholog tinman ( tin ) to model a human K158N variant and tested its function in vitro and in vivo . The R321N Tin isoform bound poorly to DNA in vitro...

View article titled, Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

Journal Articles

Lateral thinking in syndromic congenital cardiovascular disease

In collection:

Heart Disease , Rare Disease Translational Research

Agnese Kocere, Robert L. Lalonde, Christian Mosimann, Alexa Burger

Dis Model Mech (2023) 16 (5): dmm049735.

https://doi.org/10.1242/dmm.049735

Published: 2 May 2023

.... Congenital heart disease Heart development Mesoderm Lateral plate mesoderm Rare diseases Embryo patterning Animal models Genotype-phenotype correlation Cell fate Cardiopharyngeal field Hematopoiesis National Institutes of Health http://dx.doi.org/10.13039/100000002 1R01DK129350-01A1...

View article titled, Lateral thinking in syndromic congenital cardiovascular disease

Includes: Supplementary data

Journal Articles

Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation

In collection:

Heart Disease , Infectious disease biology , Microbiome in Health and Disease

Jeffrey D. Salomon, Haowen Qiu, Dan Feng, Jacob Owens, Ludmila Khailova, Suzanne Osorio Lujan, John Iguidbashian, Yashpal S. Chhonker, Daryl J. Murry, Jean-Jack Riethoven, Merry L. Lindsey, Amar B. Singh, Jesse A. Davidson

Dis Model Mech (2023) 16 (5): dmm049742.

https://doi.org/10.1242/dmm.049742

Published: 12 January 2023

... and homeostasis, and is implicated in the pathophysiology of disease, including congenital heart disease and cardiac surgery. Improving the microbiome and reducing inflammatory metabolites may reduce systemic inflammation following cardiac surgery with cardiopulmonary bypass (CPB) to expedite recovery post...

View article titled, Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation

Includes: Supplementary data

Journal Articles

A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow

In collection:

Developmental Disorders , Heart Disease

Anum Rahman, Taylor DeYoung, Lindsay S. Cahill, Yohan Yee, Sarah K. Debebe, Owen Botelho, Mike Seed, Rajiv R. Chaturvedi, John G. Sled

Dis Model Mech (2021) 14 (11): dmm049077.

https://doi.org/10.1242/dmm.049077

Published: 10 November 2021

... that is implicated in HLHS. Mouse model Hypoplastic left heart syndrome Congenital heart disease Ultrasound Fetus Magnetic resonance imaging Canadian Institutes of Health Research http://dx.doi.org/10.13039/501100000024 PJT-169050 Hypoplastic left heart syndrome (HLHS) is one...

View article titled, A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow

Includes: Supplementary data

Journal Articles

Mending a broken heart: In vitro , in vivo and in silico models of congenital heart disease

In collection:

Developmental Disorders , Heart Disease

Abdul Jalil Rufaihah, Ching Kit Chen, Choon Hwai Yap, Citra N. Z. Mattar

Dis Model Mech (2021) 14 (3): dmm047522.

https://doi.org/10.1242/dmm.047522

Published: 28 March 2021

...Abdul Jalil Rufaihah; Ching Kit Chen; Choon Hwai Yap; Citra N. Z. Mattar ABSTRACT Birth defects contribute to ∼0.3% of global infant mortality in the first month of life, and congenital heart disease (CHD) is the most common birth defect among newborns worldwide. Despite the significant impact...

View article titled, Mending a broken heart: In vitro , in vivo and in silico models of congenital heart disease

Journal Articles

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

In collection:

Drosophila as a Disease Model , Heart Disease

Emilie Auxerre-Plantié, Tanja Nielsen, Marcel Grunert, Olga Olejniczak, Andreas Perrot, Cemil Özcelik, Dennis Harries, Faramarz Matinmehr, Cristobal Dos Remedios, Christian Mühlfeld, Theresia Kraft, Rolf Bodmer, Georg Vogler, Silke R. Sperling

Dis Model Mech (2020) 13 (12): dmm045377.

https://doi.org/10.1242/dmm.045377

Published: 18 December 2020

... , 1944 - 1953 . 10.1161/CIRCULATIONAHA.114.009454 Driscoll , D. J. ( 2016 ). Clinical presentation and therapy of cardiomyopathies . In Congenital Heart Diseases: The Broken Heart. Clinical Features, Human Genetics and Molecular Pathways (ed. S. Rickert-Sperling , R. Kelly...

View article titled, Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Includes: Supplementary data

Journal Articles

Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy

In collection:

Developmental Disorders , Heart Disease

Joshua C. Peterson, Lambertus J. Wisse, Valerie Wirokromo, Tessa van Herwaarden, Anke M. Smits, Adriana C. Gittenberger-de Groot, Marie-José T. H. Goumans, J. Conny VanMunsteren, Monique R. M. Jongbloed, Marco C. DeRuiter

Dis Model Mech (2020) 13 (9): dmm044990.

https://doi.org/10.1242/dmm.044990

Published: 28 September 2020

... Aortic dissection Bicuspid aortic valve Nitric oxide Development Congenital heart disease Hartstichting 10.13039/501100002996 31190BAV Patients with a congenital bicuspid aortic valve (BAV) often develop subsequent aortopathy later in adulthood. Clinical studies show...

View article titled, Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy

Includes: Supplementary data

Journal Articles

Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation

Stephanie LaHaye, Uddalak Majumdar, Jun Yasuhara, Sara N. Koenig, Adrianna Matos-Nieves, Rahul Kumar, Vidu Garg

Dis Model Mech (2019) 12 (6): dmm036764.

https://doi.org/10.1242/dmm.036764

Published: 24 June 2019

... valve stenosis Genetics Congenital heart disease American Heart Association 10.13039/100000968 16PRE30230016 Japan Heart Foundation Bayer 10.13039/100004326 Nationwide Children's Hospital 10.13039/100007520 National Institutes of Health...

View article titled, Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation

Includes: Supplementary data

NARROW

Modeling a variant of unknown significance in the Drosophila ortholog of the human cardiogenic gene NKX2.5

Lateral thinking in syndromic congenital cardiovascular disease

Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation

A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow

Mending a broken heart: In vitro , in vivo and in silico models of congenital heart disease

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy

Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation

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