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Impact of genetic test interpretation on a missense variant in Cohen syndrome.
Front Neurosci
December 2024
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Berlin, Germany.
Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.
View Article and Find Full Text PDFDiagnosis value of targeted and metagenomic sequencing in respiratory tract infection.
Front Cell Infect Microbiol
December 2024
Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Targeted next-generation sequencing (tNGS) has become a trending tool in the field of infection diagnosis, but concerns are also raising about its performance compared with metagenomic next-generation sequencing (mNGS). This study aims to explore the clinical feasibility of a tNGS panel for respiratory tract infection diagnosis and compare it with mNGS in the same cohort of inpatients.
Methods: 180 bronchoalveolar lavage fluid samples were collected and sent to two centers for mNGS and tNGS blinded tests, respectively.
Deciphering the gut microbiota's role in diverticular disease: insights from a Mendelian randomization study.
Front Cell Infect Microbiol
December 2024
Department of Gastrointestinal Surgery, Longyan First Hospital, Longyan, China.
Background: Previous studies have indicated a potential association between gut microbiota and diverticular disease. However, the precise nature of this relationship remains unclear. In light of this, we decided to use a bidirectional two-sample Mendelian randomization (MR) study to investigate the causal relationship between gut microbiota and intestinal diverticular disease in greater depth.
View Article and Find Full Text PDFPrevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children: A cross-sectional study.
J Family Med Prim Care
November 2024
Department of Oral Medicine, Diagnosis and Radiology, Yogita Dental College and Hospital, Khed, Ratnagiri, Maharashtra, India.
Background: Thalassemia is a hemoglobinopathy-associated genetic disease resulting due to defective synthesis of globin chains, causing defects in the skeletal and oral structures.
Aim: This cross-sectional study was designed to analyze the prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children.
Materials And Methods: Institutional Ethical committee clearance was obtained before starting the study.
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
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