Results 61 to 70 of about 12,731,337 (303)
CoNVaQ: a web tool for copy number variation-based association studies
BMC Genomics, 2018 Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen +3 more
doaj +1 more source
Mosaic copy number variation in schizophrenia [PDF]
European Journal of Human Genetics, 2013 Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
Douglas M, Ruderfer +20 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose To explore caregivers' experiences and perceptions of the nutritional challenges faced by children and adolescents undergoing cancer treatment, including oral intake and the use of nutritional support. Methods This was a qualitative study based on focus groups with parents and caregivers at a Brazilian pediatric oncology hospital ...
Danyelle Apparecida Balsamão Marques +5 more
wiley +1 more source
Copy number variation in Parkinson's disease [PDF]
Genome Medicine, 2010 A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Toft, Mathias, Ross, Owen A
openaire +2 more sources
Copy Number Variations in Neuropsychiatric Disorders
International Journal of Molecular Sciences, 2023 Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki +2 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Central nervous system (CNS) relapse of neuroblastoma carries a poor prognosis, and craniospinal irradiation (CSI) poses substantial long‐term toxicity in young children. We report a toddler with MYCN‐amplified neuroblastoma harboring somatic ALK R1275Q who developed extensive leptomeningeal relapse with paraplegia.
Jinwoo Kim +11 more
wiley +1 more source
FEBS Letters, EarlyView.Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley +1 more source
Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in Sub-Saharan Africa [PDF]
, 2013 AIDS, caused by the retrovirus HIV, remains the largest cause of morbidity in sub-Saharan Africa yet almost all genetic studies have focused on cohorts from Western countries.
F. Mugusi (7640813) +86 more
core +2 more sources
FEBS Letters, EarlyView.We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace +6 more
wiley +1 more source
İstanbul Tıp Fakültesi Dergisi, 2021 Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir +5 more
doaj +1 more source