Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian CohortGenes - Tập 13 Số 7 - Trang 1253
Anca‐Lelia Riza, Ioana Streață, Eugenia Roza, Magdalena Budișteanu, Catrinel Iliescu, Carmen Burloiu, Mihaela-Amelia Dobrescu, Ștefania Dorobanțu, Adina Dragoș, Andra Grigorescu, Tiberiu Tătaru, Mihai Ioana, Raluca Ioana Teleanu
Early-onset developmental epileptic encephalopathy (DEE) refers to an age-specific, diverse group of epilepsy syndromes with electroclinical anomalies that are associated with severe cognitive, behavioral, and developmental impairments. Genetic DEEs have heterogeneous etiologies. This study includes 36 Romanian patients referred to the Regional Centre for Medical Genetics Dolj for genetic ...... hiện toàn bộ
Annotation of Protein Domains Reveals Remarkable Conservation in the Functional Make up of Proteomes Across SuperkingdomsGenes - Tập 2 Số 4 - Trang 869-911
Arshan Nasir, Aisha Naeem, Muhammad Jawad Khan, Horacio D. Lopez Nicora, Gustavo Caetano‐Anollés
The functional repertoire of a cell is largely embodied in its proteome, the collection of proteins encoded in the genome of an organism. The molecular functions of proteins are the direct consequence of their structure and structure can be inferred from sequence using hidden Markov models of structural recognition. Here we analyze the functional annotation of protein domain structures in ...... hiện toàn bộ
The Role of Mitogen-Activated Protein Kinase-Activated Protein Kinases (MAPKAPKs) in InflammationGenes - Tập 4 Số 2 - Trang 101-133
Ugo Moens, Sergiy Kostenko, Baldur Sveinbjørnsson
Mitogen-activated protein kinase (MAPK) pathways are implicated in several cellular processes including proliferation, differentiation, apoptosis, cell survival, cell motility, metabolism, stress response and inflammation. MAPK pathways transmit and convert a plethora of extracellular signals by three consecutive phosphorylation events involving a MAPK kinase kinase, a MAPK kinase, and a M...... hiện toàn bộ
Hydropriming and Biopriming Improve Medicago truncatula Seed Germination and Upregulate DNA Repair and Antioxidant GenesGenes - Tập 11 Số 3 - Trang 242
Chiara Forti, Ajay Shankar, Anjali Singh, Alma Balestrazzi, Vishal Prasad, Anca Macovei
Seed germination is a critical parameter for the successful development of sustainable agricultural practices. While seed germination is impaired by environmental constraints emerging from the climate change scenario, several types of simple procedures, known as priming, can be used to enhance it. Seed priming is defined as the process of regulating seed germination by managing a series of...... hiện toàn bộ
Evolution of Streptococcus pneumoniae Serotype 3 in England and Wales: A Major Vaccine EvaderGenes - Tập 10 Số 11 - Trang 845
Natalie Groves, Karen E Sheppard, Litt, Samuel Rose, Silva, Njoku Njoku, Ana Maria Rodrigues, Amin-Chowdhury, R H Andrews, Ladhani, ⁄ Fry
Despite its inclusion in pneumococcal conjugate vaccine 13 (PCV13), Streptococcus pneumoniae serotype 3 remains a major cause of invasive pneumococcal disease in England and Wales. Previous studies have indicated that there are distinct lineages within serotype 3 clonal complex 180 and the clade distributions have shifted in recent years with the emergence of clade II. We undertook whole g...... hiện toàn bộ
Transcriptome Profiling and Molecular Therapeutic Advances in Cystic Fibrosis: Recent InsightsGenes - Tập 10 Số 3 - Trang 180
Justin E. Ideozu, Xi Zhang, Susanna A. McColley, Hara Levy
In cystic fibrosis (CF), mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene disrupt the capacity of the encoded protein to function as a channel to transport chloride ions and water across cell membranes. The consequences are deleterious, system-wide, and immensely variable, even among patients with the same CFTR genotype. This underscores the need to characte...... hiện toàn bộ
Air Quality Effects on Human Health and Approaches for Its Assessment through Microfluidic ChipsGenes - Tập 8 Số 10 - Trang 244
Frank Schulze, Xinghua Gao, Darius Viržonis, Samar Damiati, Marlon R. Schneider, Rimantas Kodzius
Air quality depends on the various gases and particles present in it. Both natural phenomena and human activities affect the cleanliness of air. In the last decade, many countries experienced an unprecedented industrial growth, resulting in changing air quality values, and correspondingly, affecting our life quality. Air quality can be accessed by employing microchips that qualitatively an...... hiện toàn bộ
Genetic Background and Antibiotic Resistance Profiles of K. pneumoniae NDM-1 Strains Isolated from UTI, ABU, and the GI Tract, from One Hospital in Poland, in Relation to Strains Nationally and WorldwideGenes - Tập 12 Số 8 - Trang 1285
Magdalena Wysocka, Roxana Zamudio, Marco R. Oggioni, Justyna Gołębiewska, Marek Bronk, Beata Krawczyk
In recent years, there has been an observed increase in infections caused by carbapenem-resistant Klebsiella pneumonia (Kp) strains. The aim of this study was the phenotypic and genotypic analysis of eight K. pneumoniae NDM (Kp NDM) isolates, recovered in Poland during the years 2016 and 2018 from seven patients with urinary tract infections (UTIs), asymptomatic bacteriuria (ABU), or colon...... hiện toàn bộ