Results 51 to 60 of about 1,128,567 (287)

HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama

BMC Medical Genetics, 2002
Background We wanted to quantify HLA-A and -B allele and haplotype frequencies in Alabama hemochromatosis probands with HFE C282Y homozygosity and controls, and to compare results to those in other populations.
Barton James C, Acton Ronald T
doaj   +1 more source

Wright-Fisher diffusion bridges [PDF]

, 2017
{\bf Abstract} The trajectory of the frequency of an allele which begins at $x$ at time $0$ and is known to have frequency $z$ at time $T$ can be modelled by the bridge process of the Wright-Fisher diffusion.
Griffiths, Robert, Jenkins, Paul A., Spanò, Dario   +2 more
core   +2 more sources

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Association between the c.*229C>T polymorphism of the topoisomerase IIb binding protein 1 (TopBP1) gene and breast cancer [PDF]

, 2012
Topoisomerase IIb binding protein 1 (TopBP1) is involved in cell survival, DNA replication, DNA damage repair and cell cycle checkpoint control. The biological function of TopBP1 and its close relation with BRCA1 prompted us to investigate whether ...
A Jemal, A Yokoyama, Agnieszka Szymczyk, Anna Krześlak, Beata Smolarz, BF Pachkowski, CW Elston, D Fanale, DP Bartel, E Forma, Ewa Brzeziańska, Ewa Forma, G Corrao, G Papagregoriou, Grażyna Chwatko, Hanna Romanowicz-Makowska, ID Fleming, J Shen, JNM Glover, JS Morris, JS Morris, K Liu, K Metsola, LE Mechanic, M Sokka, Magdalena Bryś, MC Rodriguez, P Reynolds, Paweł Jóźwiak, PJ Brooks, RE Shore, S Chatterjee, S Peng, SM Karppinen, SS Coughlin, Waldemar Różański, X Liu, Y Jeon, Y Xu   +38 more
core   +1 more source

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

Understanding Cancer Through the Lens of Epigenetic Inheritance, Allele-Specific Gene Expression, and High-Throughput Technology

Frontiers in Oncology, 2019
Epigenetic information is characterized by its stable transmission during mitotic cell divisions and plasticity during development and differentiation. This duality is in contrast to genetic information, which is stable and identical in all cells in an ...
Maxwell P. Lee
doaj   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Assignment of SNP allelic configuration in polyploids using Competitive Allele-Specific PCR: application to triploid citrus progenies [PDF]

, 2015
Estimation of DNA allele doses in polyploid genotypes is essential to assign the allelic configuration for the different types of heterozygosity for parents and segregating progenies.
Aleza, Pablo, Cuenca, José, Navarro, Luis, Ollitrault, Patrick   +3 more
core  

Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. [PDF]

, 2014
BackgroundThe age at onset of alcohol dependence (AD) is a critical moderator of genetic associations for alcohol dependence. The present study evaluated whether single nucleotide polymorphisms (SNPs) can influence the age at onset of AD in large high ...
Agrawal, Arpana, Almasy, Laura, Bertelsen, Sarah, Bierut, Laura, Bucholz, Kathleen, Budde, John, Dick, Danielle M, Edenberg, Howard J, Foroud, Tatiana, Goate, Alison, Harari, Oscar, Hesselbrock, Victor, Hinrichs, Anthony L, Kapoor, Manav, Kramer, John, Le, Nhung, Nurnberger, John I, Porjesz, Bernice, Rice, John, Schuckit, Marc, Tischfield, Jay, Wang, Jen-Chyong, Wetherill, Leah, Xiaoling, Xuei   +23 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source