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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFIntermittent High-Degree AV Block, Rash, and Facial Droop with Negative Lyme PCR.
J Emerg Med
August 2024
Department of Emergency Medicine, University of Kentucky, Lexington, Kentucky.
Background: Lyme disease is the most common tick-borne illness in the United States, and cases of Lyme disease have nearly doubled since the early 2000s. Symptoms and presentation vary based on severity of illness, with more serious complications of disease consisting of neurologic and cardiac dysfunction. Testing is often unreliable, which can lead to delayed diagnosis and management.
View Article and Find Full Text PDFIntroduction: The aim of this study was to assess the long-term impact and potential effectiveness of our specialized acellular dermal matrix (ADM) in a two-stage breast reconstruction process.
Objective: Opinions regarding the use of ADMs are currently divided. While their positive contribution to reconstructive breast surgery is evident, the results of studies vary depending on specific procedures, patient selection, and techniques employed.
Compartment model of strategy-dependent time delays in replicator dynamics.
J Theor Biol
January 2025
Center for Computational and Theoretical Biology, University of Wuerzburg, Klara-Oppenheimer-Weg 32, Wuerzburg, 97074, Germany; Department of Theoretical Biology, Max Planck Institute for Evolutionary Biology, August-Thienemann-Str. 2, Ploen, 24306, Germany.
Real-world processes often exhibit temporal separation between actions and reactions - a characteristic frequently ignored in many modelling frameworks. Adding temporal aspects, like time delays, introduces a higher complexity of problems and leads to models that are challenging to analyse and computationally expensive to solve. In this work, we propose an intermediate solution to resolve the issue in the framework of evolutionary game theory.
View Article and Find Full Text PDFIntroduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
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