Results 81 to 90 of about 72,190 (244)

Evolutionary Covariant Positions within Calmodulin EF-hand Sequences Promote Ligand Binding [PDF]

, 2018
Intracellular calcium signaling is an essential regulatory mechanism through calcium-mediated signal transduction pathways involved in many cell processes, such as exocytosis, motility, apoptosis, excitability, transcription, and muscle contraction.
Vaidyanathan, Uma
core   +1 more source

Systemic Absorption and Pharmacokinetics of Five Novel Topical Dermatologic Agents: A Review

JEADV Clinical Practice, EarlyView.
ABSTRACT In recent years, innovative topical medications with novel mechanisms of action have emerged to treat common dermatologic conditions such as acne, atopic dermatitis, vitiligo, and actinic keratoses. These molecularly targeted therapies offer improved safety and tolerability compared to traditional options like corticosteroids.
Mary Dyson, Kara Hurley, Hannah Chaudhury, Lara Shehadeh, Cameron West   +4 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Smith, Andrew H, Fish, Frank A, Kannankeril, Prince J   +2 more
core   +1 more source

Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy:a 10-year follow-up [PDF]

, 2013
Development of dilated cardiomyopathy in patients with congenital complete atrioventricular block with or without pacemaker is well described. We report a case of dilated cardiomyopathy in a child with congenital complete atrioventricular block, long-QT ...
Andersen, Henrik Ø, Ellesøe, Sabrina Gade, Reimers, Jesper Irving   +2 more
core   +1 more source

Review of nutrition management of pediatric intestinal pseudo‐obstruction

Nutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman, Raisa Rani James, Bushra El‐Amaireh, Andrea Adler, Kadakkal Radhakrishnan, Sujithra Velayuthan   +5 more
wiley   +1 more source

Long QT interval in resting electrocardiogram – and what next? Sports cardiologist’s pointofview. Part 1. From electrophysiology to diagnostics

Pediatria i Medycyna Rodzinna, 2014
Electrocardiography is the most common and available cardiovascular diagnostic procedure and an important tool in everyday clinical practice of a family physician. Electrocardiogram interpretation is therefore an invaluable clinical skill.
Zbigniew Krenc
doaj   +1 more source

Mutations and SNPs of human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese patients with Brugada syndrome [PDF]

, 2007
Background: Brugada syndrome is an inherited arrhythmogenic disease characterized by right bundle branch block pattern and ST segment elevation, leading to the change of V1 to V3 on electrocardiogram, and an increased risk of sudden cardiac death ...
Ackerman MJ, Splawski I, Makielski, Aydin A, Bahring S, Dahm S, Guenthe, Bezzina C, Veldkamp MW, van Den Ber, Brugada P and Brugada J, Chen JZ, Xie XD, Wang XX, Tao M, Sh, Furuhashi M, Uno K, Tsuchihashi K,, Huang H, Zhao J, Barrane FZ, Champa, Splawski I, Shen J, Timothy KW, Leh, Wattanasirichaigoon D, Vesely MR, D   +8 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

R-from-T as a common mechanism of arrhythmia initiation in long QT syndromes [PDF]

, 2019
Background: Long QT syndromes (LQTS) arise from many genetic and nongenetic causes with certain characteristic ECG features preceding polymorphic ventricular tachyarrhythmias (PVTs).
Liu, Michael B., Panfilov, Alexander, Qu, Zhilin, Vandersickel, Nele   +3 more
core   +2 more sources