Results 71 to 80 of about 517,834 (299)

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

Molecular Genetics and Metabolism Reports, 2019
Objectives: The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of SLC2A3 has been ...
Kim R. Simpfendorfer, Wentian Li, Andrew Shih, Hongxiu Wen, Harini P. Kothari, Edward A. Einsidler, Arthur Wuster, Julie Hunkapiller, Timothy W. Behrens, Robert R. Graham, Michael J. Townsend, Doron M. Behar, Rui Hu, Elliott Greenspan, Peter K. Gregersen   +14 more
doaj   +1 more source

Zebrafish as a tool to study schizophrenia-associated copy number variants

Disease Models & Mechanisms, 2020
Schizophrenia remains one of the most debilitating human neurodevelopmental disorders, with few effective treatments and striking consequences felt by individuals, communities and society as a whole.
Philip D. Campbell, Michael Granato
doaj   +1 more source

Characterization of the Copy Number and Variants of Deformed Wing Virus (DWV) in the Pairs of Honey Bee Pupa and Infesting Varroa destructor or Tropilaelaps mercedesae [PDF]

, 2017
Recent honey bee colony losses, particularly during the winter, have been shown to be associated with the presence of both ectoparasitic mites and Deformed Wing Virus (DWV). Whilst the role of Varroa destructor mites as a viral vector is well established,
Dong, Xiaofeng, Kadowaki, Tatsuhiko, Wu, Yunfei   +2 more
core   +2 more sources

Ethnic Differences in the Association Between SOD2 rs4880 and Hepatotoxicity in Pediatric Acute Lymphoblastic Leukemia: A Report From the REDIAL Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Treatment‐associated hepatotoxicity (TAH) is a common complication of pediatric acute lymphoblastic leukemia (ALL) treatment, but genetic risk factors remain poorly understood. We evaluated the SOD2 rs4880 variant in 544 children with ALL at Texas Children's Hospital. After adjusting for demographic and clinical covariates, the rs4880 C allele
Emily J. Mason, John P. Woodhouse, Joanna S. Yi, M. Monica Gramatges, Olga A. Taylor, Veronica A. Morales, Shalini Dhamodharan, Marley Roberts, Karen R. Rabin, Philip J. Lupo, Michael E. Scheurer, Van Huynh, Steven D. Mittelman, Etan Orgel, Austin L. Brown   +14 more
wiley   +1 more source

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci [PDF]

, 2016
Background: Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution of rare genetic variants ...
Andre Franke, Carl A. Anderson, Christopher G. Mathew, Hamid Reza Saadati, Ingo Helbig, Limas Kupcinskas, Michael Wittig, Miles Parkes, Philip Rosenstiel, Robert Häsler, Stefan Schreiber, Tom Hemming Karlsen   +11 more
core   +3 more sources

The Role of Constitutional Copy Number Variants in Breast Cancer [PDF]

Microarrays, 2015
Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility.
Walker, Logan C., Wiggins, George A.R., Pearson, John F.   +2 more
openaire   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
Background: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between chicken ...
Skinner, B., Robertson, L., Tempest, H., Langley, E., Ioannou, D., Fowler, K., Crooijmans, R., Hall, A., Griffin, D., Völker, M., Skinner, B., Robertson, L., Tempest, H., Langley, E., Ioannou, D., Fowler, K., Crooijmans, R., Hall, A., Griffin, D., Völker, M.   +19 more
core   +6 more sources

Association of Rare Copy Number Variants With Risk of Depression [PDF]

JAMA Psychiatry, 2019
The role of large, rare copy number variants (CNVs) in neuropsychiatric disorders is well established, but their association with common psychiatric disorders, such as depression, remains unclear.To examine the association of a group of 53 CNVs associated with neurodevelopmental disorders and burden of rare CNVs with risk of depression.This case ...
Kendall, Kimberley Marie, Rees, Elliott, Bracher-Smith, Matthew, Legge, Sophie, Riglin, Lucy, Zammit, Stanley, O'Donovan, Michael Conlon, Owen, Michael John, Jones, Ian, Kirov, George, Walters, James Tynan Rhys   +10 more
openaire   +5 more sources