Results 141 to 150 of about 85,595 (264)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

One Ventricle, 3000 Proteins: Unraveling the Molecular Landscape of the Fontan Circulation

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Jennifer P. Woo, Alexander R. Opotowsky
doaj   +1 more source

Integrated analysis of MYH6, MYH7, and MYH7B expression and their associated microRNAs in human end-stage heart failure. [PDF]

Front Cardiovasc Med
Červenák Z, Červenák F, Valášková S, Chomaničová N, Katreničová N, Hulman M, Gažová A, Kyselovic J.   +7 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

A muscle-enriched mitochondrial protein regulates postnatal heart growth through mitonuclear ubiquinone-PPAR signaling. [PDF]

Proc Natl Acad Sci U S A
Hirose K, Chen X, Kalyanaraman C, Waddingham MT, Nakamura M, Zhang F, Chen C, Yao S, Chang S, Yu H, Wang J, Barca E, Nakano H, Hsu A, Khyeam S, Gonzalez Ortega S, Tajima K, Yoneshiro T, Zhang H, Padmanabhan A, Kajimura S, Haldar S, Nakano A, Murai M, Fujihara Y, Otsu K, Quinzii CM, Jacobson MP, Hu G, Pearson JT, Huang GN.   +30 more
europepmc   +1 more source

Case of Rupture of the Right Ventricle of the Heart [PDF]

BMJ
openaire   +2 more sources

Ulcer of the stomach, opening into the left ventricle of the heart [PDF]

Transactions of the Royal Academy of Medicine in Ireland, 1886
openaire   +2 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Sulf1 regulates inflammation via modulation of TGF-β dependent epicardial activation. [PDF]

EMBO Rep
Kaur Bajwa G, Kayman Kürekçi G, Marín-Juez R.   +2 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source