Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target

L Mifflin, D Ofengeim, J Yuan - Nature reviews Drug discovery, 2020 - nature.com
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a key mediator of cell
death and inflammation. The unique hydrophobic pocket in the allosteric regulatory domain …

Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki… - Nature …, 2016 - nature.com
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%(refs.,). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

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 …

Zebrafish as a model to study cardiac development and human cardiac disease

J Bakkers - Cardiovascular research, 2011 - academic.oup.com
Over the last decade, the zebrafish has entered the field of cardiovascular research as a
new model organism. This is largely due to a number of highly successful small-and large …

A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies

M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki… - PLoS …, 2016 - journals.plos.org
Mitochondrial disorders have the highest incidence among congenital metabolic disorders
characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 …

[HTML][HTML] Transcription factor protein interactomes reveal genetic determinants in heart disease

B Gonzalez-Teran, M Pittman, F Felix, R Thomas… - Cell, 2022 - cell.com
Congenital heart disease (CHD) is present in 1% of live births, yet identification of causal
mutations remains challenging. We hypothesized that genetic determinants for CHDs may …

Computational tools for prioritizing candidate genes: boosting disease gene discovery

Y Moreau, LC Tranchevent - Nature Reviews Genetics, 2012 - nature.com
At different stages of any research project, molecular biologists need to choose—often
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …

Genetic basis of severe childhood-onset cardiomyopathies

C Vasilescu, TH Ojala, V Brilhante, S Ojanen… - Journal of the American …, 2018 - jacc.org
Background: Childhood cardiomyopathies are progressive and often lethal disorders,
forming the most common cause of heart failure in children. Despite severe outcomes, their …

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 …