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https://www.readbyqxmd.com/read/27922734/population-pharmacokinetics-of-ceritinib-in-adult-patients-with-tumors-characterized-by-genetic-abnormalities-in-anaplastic-lymphoma-kinase
#1
Ying Hong, Vanessa Q Passos, Pai-Hsi Huang, Yvonne Y Lau
Ceritinib is a second-generation selective and potent oral anaplastic lymphoma kinase (ALK) inhibitor approved for ALK-positive advanced non-small cell lung cancer previously treated with crizotinib. Population pharmacokinetic (PK) analysis was performed to describe the PK of ceritinib and was used to evaluate the covariate effects on systemic exposure at its label dose (750 mg orally once daily). Ceritinib concentration-time data from 4 clinical studies were described by a 1-compartment model with delayed first-order absorption and time-dependent elimination...
December 6, 2016: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27921411/association-of-cd46-ivs1-1724-c-g-single-nucleotide-polymorphism-in-iranian-women-with-unexplained-recurrent-spontaneous-abortion-ursa
#2
Shiva Abdi-Shayan, Amir Monfaredan, Zahra Moradi, Mehrangiz Rajaii Oskoui, Tohid Kazemi
There are several known and unknown factors for unexplained recurrent spontaneous abortion (URSA). Among them, complement regulatory protein CD46 plays a pivotal role in preventing uncontrolled activation of complement and successful continuation of pregnancy. We aimed in this study to investigate the possible association of CD46 IVS1-1724 C>G polymorphism with RSA in Iranian women. 141 women with RSA and 153 women with normal pregnancy were enrolled in this study. RSA was confirmed as the history of having at least three consecutive abortions without any known immunologic, pathologic and genetic reason...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921144/the-genetic-architecture-of-the-mhc-class-ii-region-in-british-texel-sheep
#3
Alsagher O A Ali, Abigail Stear, Karen Fairlie-Clarke, Gholamreza Nikbakht Brujeni, N Mahiza Md Isa, M Shahrom Bin Salisi, Katarzyna Donskow-Łysoniewska, David Groth, Johannes Buitkamp, Michael J Stear
Understanding the structure of the major histocompatibility complex, especially the number and frequency of alleles, loci and haplotypes, is crucial for efficient investigation of the way in which the MHC influences susceptibility to disease. Nematode infection is one of the most important diseases suffered by sheep, and the class II region has been repeatedly associated with differences in susceptibility and resistance to infection. Texel sheep are widely used in many different countries and are relatively resistant to infection...
December 5, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27920762/artificial-intelligence-vs-statistical-modeling-and-optimization-of-continuous-bead-milling-process-for-bacterial-cell-lysis
#4
Shafiul Haque, Saif Khan, Mohd Wahid, Sajad A Dar, Nipunjot Soni, Raju K Mandal, Vineeta Singh, Dileep Tiwari, Mohtashim Lohani, Mohammed Y Areeshi, Thavendran Govender, Hendrik G Kruger, Arshad Jawed
For a commercially viable recombinant intracellular protein production process, efficient cell lysis and protein release is a major bottleneck. The recovery of recombinant protein, cholesterol oxidase (COD) was studied in a continuous bead milling process. A full factorial response surface methodology (RSM) design was employed and compared to artificial neural networks coupled with genetic algorithm (ANN-GA). Significant process variables, cell slurry feed rate (A), bead load (B), cell load (C), and run time (D), were investigated and optimized for maximizing COD recovery...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27919263/derivation-of-chicken-induced-pluripotent-stem-cells-tolerant-to-newcastle-disease-virus-induced-lysis-through-multiple-rounds-of-infection
#5
Leonardo Susta, Ying He, Jessica M Hutcheson, Yangqing Lu, Franklin D West, Steven L Stice, Ping Yu, Zaid Abdo, Claudio L Afonso
BACKGROUND: Newcastle disease (ND), caused by Newcastle disease virus (NDV), is a devastating disease of poultry and wild birds. ND is prevented by rigorous biocontainment and vaccination. One potential approach to prevent spread of the virus is production of birds that show innate resistance to NDV-caused disease. Induced pluripotent stem cell (iPSC) technology allows adult cells to be reprogrammed into an embryonic stem cell-like state capable of contributing to live offspring and passing on unique traits in a number of species...
December 5, 2016: Virology Journal
https://www.readbyqxmd.com/read/27917595/societal-preferences-in-the-treatment-of-pediatric-medulloblastoma-balancing-risk-of-death-and-quality-of-life
#6
Amir Khakban, Tima Mohammadi, Larry D Lynd, Don Mabbott, Eric Bouffet, Louise Gastonguay, Zafar Zafari, David Malkin, Michael Taylor, Carlo A Marra
PURPOSE: Medulloblastoma is the most prevalent childhood brain cancer. Children with medulloblastoma typically receive a combination of surgery, radiation, and chemotherapy. The survival rate is high but survivors often have sequelae from radiotherapy of the entire developing brain and spinal cord. Ongoing genetic studies have suggested that decreasing the dose of radiation might be possible among children with favorable molecular variants; however, this may result in an increased disease recurrence...
December 4, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27917525/a-comparison-study-of-multivariate-fixed-models-and-gene-association-with-multiple-traits-gamut-for-next-generation-sequencing
#7
Chi-Yang Chiu, Jeesun Jung, Yifan Wang, Daniel E Weeks, Alexander F Wilson, Joan E Bailey-Wilson, Christopher I Amos, James L Mills, Michael Boehnke, Momiao Xiong, Ruzong Fan
In this paper, extensive simulations are performed to compare two statistical methods to analyze multiple correlated quantitative phenotypes: (1) approximate F-distributed tests of multivariate functional linear models (MFLM) and additive models of multivariate analysis of variance (MANOVA), and (2) Gene Association with Multiple Traits (GAMuT) for association testing of high-dimensional genotype data. It is shown that approximate F-distributed tests of MFLM and MANOVA have higher power and are more appropriate for major gene association analysis (i...
December 5, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/27917260/integrative-bayesian-analysis-of-neuroimaging-genetic-data-through-hierarchical-dimension-reduction
#8
S Azadeh, B P Hobbs, L Ma, D A Nielsen, F G Moeller, V Baladandayuthapani
Advances in neuromedicine have emerged from endeavors to elucidate the distinct genetic factors that influence the changes in brain structure that underlie various neurological conditions. We present a framework for examining the extent to which genetic factors impact imaging phenotypes described by voxel-wise measurements organized into collections of functionally relevant regions of interest (ROIs) that span the entire brain. Statistically, the integration of neuroimaging and genetic data is challenging. Because genetic variants are expected to impact different regions of the brain, an appropriate method of inference must simultaneously account for spatial dependence and model uncertainty...
April 2016: Proceedings of the IEEE International Symposium on Biomedical Imaging: from Nano to Macro
https://www.readbyqxmd.com/read/27916633/characterization-of-the-tetraspan-junctional-complex-4jc-superfamily
#9
Amy Chou, Andre Lee, Kevin J Hendargo, Vamsee S Reddy, Maksim A Shlykov, Harikrishnan Kuppusamykrishnan, Arturo Medrano-Soto, Milton H Saier
Connexins or innexins form gap junctions, while claudins and occludins form tight junctions. In this study, statistical data, derived using novel software, indicate that these four junctional protein families and eleven other families of channel and channel auxiliary proteins are related by common descent and comprise the Tetraspan (4 TMS) Junctional Complex (4JC) Superfamily. These proteins all share similar 4 transmembrane α-helical (TMS) topologies. Evidence is presented that they arose via an intragenic duplication event, whereby a 2 TMS-encoding genetic element duplicated tandemly to give 4 TMS proteins...
December 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27916172/neck-dissection-versus-watchful-waiting-in-early-squamous-cell-carcinoma-of-the-tongue-our-experience-on-127-cases
#10
Giovanni Dell'Aversana Orabona, Paola Bonavolontà, Fabio Maglitto, Marco Friscia, Giorgio Iaconetta, Luigi Califano
BACKGROUND: Early oral squamous cell carcinoma (EOSCC) represents about 90% of the oral cancers especially in older males. The etiology is multifactorial, strongly related to tobacco and alcohol abuse, but also infective agents, Human papillomaviruses (HPV16-18), genetic factors and pre-neoplastic lesions seem to be implicated. There is no consensus in the literature for the treatment of early squamous cell carcinoma of the tongue (stages I-II); both an elective neck dissection policy and a watchful-waiting policy have their proponents in the different centers...
December 2016: Surgical Oncology
https://www.readbyqxmd.com/read/27913843/molecular-evolution-in-historical-perspective
#11
Edna Suárez-Díaz
In the 1960s, advances in protein chemistry and molecular genetics provided new means for the study of biological evolution. Amino acid sequencing, nucleic acid hybridization, zone gel electrophoresis, and immunochemistry were some of the experimental techniques that brought about new perspectives to the study of the patterns and mechanisms of evolution. New concepts, such as the molecular evolutionary clock, and the discovery of unexpected molecular phenomena, like the presence of repetitive sequences in eukaryotic genomes, eventually led to the realization that evolution might occur at a different pace at the organismic and the molecular levels, and according to different mechanisms...
December 2016: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/27913276/association-of-genetic-polymorphisms-of-angiopoietin-like-4-with-severity-of-posttransplant-proteinuria-in-kidney-allograft-recipients
#12
Youngil Chang, Tariq Shah, Jaewook Yang, David I Min
BACKGROUND: Proteinuria is a hallmark of glomerular injury, and persistent proteinuria is associated with graft failure in kidney transplant patients. Recently, it is known that the level of circulating angiopoietin-like 4 (ANGPTL4) is elevated in the patients with human nephrotic syndrome, in which ANGPTL4 is responsible for relieving proteinuria. PURPOSE: The purpose of this study is to determine effects of clinical factors and genetic polymorphism of ANGPTL4 on proteinuria after kidney transplantation...
November 29, 2016: Transplant Immunology
https://www.readbyqxmd.com/read/27912731/predicting-the-recurrence-of-noncoding-regulatory-mutations-in-cancer
#13
Woojin Yang, Hyoeun Bang, Kiwon Jang, Min Kyung Sung, Jung Kyoon Choi
BACKGROUND: One of the greatest challenges in cancer genomics is to distinguish driver mutations from passenger mutations. Whereas recurrence is a hallmark of driver mutations, it is difficult to observe recurring noncoding mutations owing to a limited amount of whole-genome sequenced samples. Hence, it is required to develop a method to predict potentially recurrent mutations. RESULTS: In this work, we developed a random forest classifier that predicts regulatory mutations that may recur based on the features of the mutations repeatedly appearing in a given cohort...
December 3, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/27911290/rare-genetic-variant-in-sorl1-may-increase-penetrance-of-alzheimer-s-disease-in-a-family-with-several-generations-of-apoe-%C3%A9-4-homozygosity
#14
Eva Louwersheimer, Petra E Cohn-Hokke, Yolande A L Pijnenburg, Marjan M Weiss, Erik A Sistermans, Annemieke J Rozemuller, Marc Hulsman, John C van Swieten, Cock M van Duijn, Frederik Barkhof, Teddy Koene, Philip Scheltens, Wiesje M Van der Flier, Henne Holstege
BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an inheritance pattern suggestive of autosomal dominant AD, with no variants in PSEN1, PSEN2, or APP...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27910249/the-hla-a-b-and-drb1-polymorphism-in-a-large-dataset-of-south-brazil-bone-marrow-donors-from-rio-grande-do-sul
#15
J A Boquett, J M Nunes, S Buhler, M Z de Oliveira, L F Jobim, M Jobim, N J R Fagundes, L Schüler-Faccini, A Sanchez-Mazas
Human leukocyte antigen (HLA) genes are very informative in population genetics studies and their variability has been widely used to reconstruct the history of geographic and/or demographic expansions of human populations. The characterization of HLA diversity at the population level is also fundamental in clinical studies, particularly for bone marrow transplantation programs. In this study, we investigated the HLA molecular variation in Rio Grande do Sul, South Brazil, in order to identify possible regional differences across this state...
December 2, 2016: HLA
https://www.readbyqxmd.com/read/27909831/the-2017-international-workshop-on-statistical-genetic-methods-for-human-complex-traits-formerly-the-methodology-of-twin-and-family-studies-advanced-workshop-march-6th-march-10th-2017
#16
https://www.readbyqxmd.com/read/27908410/elevated-serum-mda-and-depleted-non-enzymatic-antioxidants-macro-minerals-and-trace-elements-are-associated-with-bipolar-disorder
#17
Manjurul Islam Chowdhury, Maimuna Hasan, Mohammad Safiqul Islam, Md Shahid Sarwar, Mohammad Nurul Amin, S M Naim Uddin, Md Zahedur Rahaman, Sujan Banik, Md Saddam Hussain, Kazushige Yokota, Abul Hasnat
Genetic and neurobiological factors are considered to be the major causes of mood and mental disorders. However, over the past few years, increased levels of serum malondialdehyde and altered levels of various non-enzymatic antioxidants and essential minerals involved in abnormal functional activity have been identified as major contributing factors to the pathogenesis of several neurological disorders. The aim of this study was to determine the levels of the serum lipid peroxidation product malondialdehyde (MDA), antioxidants (vitamin A, E and C), macro-minerals (calcium, potassium and sodium) and trace elements (zinc, iron and selenium) in patients with bipolar disorder and to explore their role in disease progression...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27908293/autosomal-genetic-control-of-human-gene-expression-does-not-differ-across-the-sexes
#18
Irfahan Kassam, Luke Lloyd-Jones, Alexander Holloway, Kerrin S Small, Biao Zeng, Andrew Bakshi, Andres Metspalu, Greg Gibson, Tim D Spector, Tonu Esko, Grant W Montgomery, Joseph E Powell, Jian Yang, Peter M Visscher, Allan F McRae
BACKGROUND: Despite their nearly identical genomes, males and females differ in risk, incidence, prevalence, severity and age-at-onset of many diseases. Sexual dimorphism is also seen in human autosomal gene expression, and has largely been explored by examining the contribution of genotype-by-sex interactions to variation in gene expression. RESULTS: In this study, we use data from a mixture of pedigree and unrelated individuals with verified European ancestry to investigate the sex-specific genetic architecture of gene expression measured in whole blood across n=1048 males and n=1005 females by treating gene expression intensities in the sexes as two distinct traits and estimating the genetic correlation (r G) between them...
December 1, 2016: Genome Biology
https://www.readbyqxmd.com/read/27908164/comparison-of-low-contrast-detectability-between-two-ct-reconstruction-algorithms-using-voxel-based-3d-printed-textured-phantoms
#19
Justin Solomon, Alexandre Ba, François Bochud, Ehsan Samei
PURPOSE: To use novel voxel-based 3D printed textured phantoms in order to compare low-contrast detectability between two reconstruction algorithms, FBP (filtered-backprojection) and SAFIRE (sinogram affirmed iterative reconstruction) and determine what impact background texture (i.e., anatomical noise) has on estimating the dose reduction potential of SAFIRE. METHODS: Liver volumes were segmented from 23 abdominal CT cases. The volumes were characterized in terms of texture features from gray-level co-occurrence and run-length matrices...
December 2016: Medical Physics
https://www.readbyqxmd.com/read/27906628/role-of-genomic-factors-beyond-thymidylate-synthase-in-the-prediction-of-response-to-5-fluorouracil
#20
Godefridus J Peters, K Smid, E Meijer, C J van Groeningen, L G Leon
5-Fluorouracil (5FU) is still a major drug in combinations regimens for the treatment of colorectal cancer (CRC) both in the adjuvant and palliative setting. 5FU or its oral prodrug capecitabine is usually combined with irinotecan/oxaliplatin and the novel agents bevacizumab/cetuximab. Although this improved the outcome, the overall prognosis in patients with metastasized disease is still relatively poor. Although the target for 5FU, thymidylate synthase was shown to have a predictive value, this could only predict response in a subset of patients...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
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