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| http://dx.doi.org/10.1128/mBio.00442-12 | DOI Listing |
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Additive Value of Polygenic Risk Score to Family History for Type 2 Diabetes Prediction: Results From the All of Us Research Database.
Diabetes Care
February 2025
Division of Blood Disorders and Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.
Objective: The goal of this study was to assess the additive value of considering type 2 diabetes (T2D) polygenic risk score (PRS) in addition to family history for T2D prediction.
Research Design And Methods: Data were obtained from the All of Us (AoU) research database. First-degree T2D family history was self-reported on the personal family history health questionnaire.
WWC proteins-mediated compensatory mechanism restricts schwannomatosis driven by loss of function.
Sci Adv
January 2025
Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China.
NF2-related schwannomatosis, previously known as neurofibromatosis type 2, is a genetic disorder characterized by nerve tumors due to gene mutations. Mice with deletion develop schwannomas slowly with low penetrance, hence inconvenient for preclinical studies. Here, we show that NF2, by recruiting E3 ubiquitin ligases β-TrCP1/2, promotes WWC1-3 ubiquitination and degradation.
View Article and Find Full Text PDFInfluence of Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme Gene on Adiposity and Cardiac Function in Patients with Heart Failure.
Arq Bras Cardiol
January 2025
Programa de Pós-Graduação em Alimentação, Nutrição e Saúde - Universidade Federal do Rio Grande do Sul, Porto Alegre, RS - Brasil.
Background: The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4340) is associated with the pathogenesis of heart failure (HF). This polymorphism may contribute to a greater propensity for severe HF and excess weight.
Objective: To evaluate adiposity, cardiac function, and their association with ACE I/D polymorphism in HF patients.
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.
Rev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFA versatile site-directed gene trap strategy to manipulate gene activity and control gene expression in Caenorhabditis elegans.
PLoS Genet
January 2025
Department of Integrative Biology, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
The ability to manipulate gene activity and control transgene expression is essential to study gene function. While several genetic tools for modifying genes or controlling expression separately are available for Caenorhabditis elegans, there are no genetic approaches to generate mutations that simultaneously disrupt gene function and provide genetic access to the cells expressing the disrupted gene. To achieve this, we developed a versatile gene trap strategy based on cGAL, a GAL4-UAS bipartite expression system for C.
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