Results 81 to 90 of about 55,991 (251)

Non‐canonical PKG1 regulation in cardiovascular health and disease

British Journal of Pharmacology, EarlyView.
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

British Journal of Pharmacology, EarlyView.
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, Valerie Lohner, Kevin Terre, Thomas Riffelmacher, Roman Pfister   +4 more
wiley   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Hypertrophic cardiomyopathy [PDF]

Current Problems in Cardiology, 1993
openaire   +3 more sources

Successful Bortezomib–Lenalidomide–Dexamethasone Therapy in a 72‐Year‐Old Patient With Sporadic Late‐Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance

Muscle &Nerve, EarlyView.
Hiroki Komatsu, Shogo Komaki, Meiko Maeda, Akatsuki Kubota, Mitsuhiro Yuasa, Mineo Kurokawa, Ryo Morishima, Satoko Uruha, Akinori Uruha, Ichizo Nishino, Masashi Hamada, Tatsushi Toda, Wataru Satake   +12 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
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, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
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, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Prenatal Diagnosis, EarlyView.
Kristina Nimchenko, Bettina Bessieres, Gihad E. Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach   +9 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Safety and Utility of Smartphone‐Based Heart Monitors in Pediatric Patients With Cardiovascular Implantable Electronic Devices

Journal of Cardiovascular Electrophysiology, EarlyView.
Smartphone heart monitors in pediatric CIEDs: A pilot study. Smartphone heart monitors did not induce EMI in children with CIEDs, enabling reliable heart rate measurement and accurate identification of ventricular non‐captures. ABSTRACT Background Portable heart monitors enable on‐demand electrocardiogram (ECG) recordings and enhance symptom‐rhythm ...
Chun‐Lok Ho, Sit‐Yee Kwok, Sabrina S. L. Tsao, Yiu‐Fai Cheung   +3 more
wiley   +1 more source