Results 91 to 100 of about 55,948 (258)
ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala +1 more
wiley +1 more source
Nut Consumption and Sperm Quality in Healthy Men: Results From the Led‐Fertyl Study
ABSTRACT Background Nuts are rich in antioxidants and other bioactive compounds, and recent evidence suggests that their regular consumption may be associated with sperm quality. However, the current scientific evidence remains limited and inconsistent.
Estefanía Dávila‐Córdova +10 more
wiley +1 more source
Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery +17 more
wiley +1 more source
Non‐canonical PKG1 regulation in cardiovascular health and disease
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley +1 more source
Cardiotoxicity of BRAF/MEK inhibitors
Abstract Rapidly accelerated fibrosarcoma type B/B‐Raf proto‐oncogene, serine/threonine kinase (BRAF) and mitogen‐activated protein kinase (MEK) inhibitors have transformed outcomes in cancer therapy, particularly in melanoma. However, cardiovascular toxicities are increasingly recognized in real‐world clinical practice.
Katharina Seuthe +4 more
wiley +1 more source
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source

