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Background And Objectives: The Rh system is genetically controlled by the homologous RHD and RHCE genes that encode the RhD and RhCcEe polypeptides, respectively. Deletions, point mutations and rearrangements between both genes are responsible for the great polymorphism of this system. The aim of this work was to analyse the genetic basis of a Dc- phenotype.
Materials And Methods: DNA samples from the Dc- propositus and family members were obtained from peripheral blood. RHCE intron 4-exon 5 and RH exons 4, 5, 6 and 7 were analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Exon 9 was studied by PCR-sequence-specific primers (SSP). The RH locus was further analysed by using a PCR designed for a hybrid allele.
Results: No RHCE-specific fragments were found when analysing exons 5, 6 and 7 of the RH locus from the propositus' DNA, while exons 4 and 9 of both RH genes were present.
Conclusions: The results obtained indicated that the Dc- phenotype is encoded by a novel RHCE-D(5-7/8)-CE hybrid allele.
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http://dx.doi.org/10.1046/j.1423-0410.2003.00332.x | DOI Listing |
J Allergy Clin Immunol
March 2025
Henry Ford Health, Detroit.
Background: Environmental exposures and social determinants likely influence specific childhood asthma phenotypes.
Objective: We hypothesized that the Child Opportunity Index (COI) at birth, measuring multiple neighborhood opportunities, influences incidence rates (IRs) for asthma with recurrent exacerbations (ARE).
Methods: We tested for COI associations with ARE incidence rates in 15,877 children born between 1990-2018 in the Environmental Influences on Child Health Outcomes (ECHO) program.
Dis Model Mech
March 2025
Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, USA.
Humans and mice with mutations in genes encoding CIB2 and whirlin (WHRN) are deaf. We previously reported that CIB2 binds to WHRN and is essential for stereocilia staircase architecture of cochlear hair cells. Here, we refine the interaction domains of both proteins and show that these proteins play unique roles in stereocilia bundle formation and organization.
View Article and Find Full Text PDFAntimicrob Agents Chemother
March 2025
Department of Microbiology, Hospital Universitari Son Espases, Instituto de Investigación Sanitaria Illes Balears (IdISBa), CIBERINFEC, Palma, Spain.
A growing number of novel antipseudomonal β-lactams have been introduced in recent years, but the emergence of resistance is still a major concern in the treatment of infections. Here, we compared the mutant prevention concentrations (MPCs) and the nature of first-step resistant mutants to classical and novel β-lactams in . MPCs were determined in duplicate experiments for ceftazidime, ceftazidime/avibactam, ceftolozane/tazobactam, imipenem, imipenem/relebactam, meropenem, meropenem/vaborbactam, aztreonam, aztreonam/avibactam, and cefiderocol in PAO1, PAOMS (Δ), and three extensively drug-resistant (XDR) clinical strains belonging to high-risk clones ST111, ST175, and ST235.
View Article and Find Full Text PDFEnviron Toxicol
March 2025
Department of Otolaryngology, The Third Affiliated Hospital of Wenzhou Medical University (Ruian People's Hospital), Wenzhou, China.
Growing evidence suggests an association between various immune cell phenotypes and the development of asthma. However, it is still not entirely clear whether specific immune cell phenotypes might causally contribute to the risk of asthma. Despite further studies required to validate this claim, our study delves deeper into explaining this relationship and paving the way toward new therapeutic approaches.
View Article and Find Full Text PDFEur J Hum Genet
March 2025
Office of Academic Diversity, Division of Diversity, Equity and Inclusion, University of California at Davis, Davis, CA, USA.
Genetic studies in Latin America have expanded, but further efforts are needed to understand cancer susceptibility genes beyond BRCA1 and BRCA2, especially by characterizing the prevalence and spectrum of pathogenic or likely pathogenic variants (PVs) in the region. This study aimed to determine the frequency of hereditary cancer syndromes (HCS) in Colombians with solid tumors and to characterize the spectrum of PVs. Using data from the Colombia's largest Institutional Hereditary Cancer Program, we included patients aged ≥18 years with solid tumors who met HCS criteria and were offered genetic testing with a 105-cancer gene panel.
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