Molecular phenotype
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We sought to understand the clinical course and molecular phenotype of patients who showed disease progression after programmed cell death ligand 1 (PD-L1) inhibitor treatment but subsequently responded to PD-1 inhibitor treatment. We also explored the response to PD-1-axis targeted therapy of classical Hodgkin lymphoma (cHL) according to genetically driven PD-L1 and programmed cell death ligand 2 (PD-L2) expression.
8p vielonmusk 21-01-2022 13 0 Download
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Understanding the genetic complexity of traits is an important objective of small grain temperate cereals yield and adaptation improvements. Bi-parental quantitative trait loci (QTL) linkage mapping is a powerful method to identify genetic regions that co-segregate in the trait of interest within the research population. However, recently, association or linkage disequilibrium (LD) mapping using a genome-wide association study (GWAS) became an approach for unraveling the molecular genetic basis underlying the natural phenotypic variation.
17p partimesinhvien 08-05-2020 16 0 Download
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Two novel rare mutations, MCAD842GfiC (R256T) and MCAD 1166AfiG (K364R), have been investigated to assess how far the bio-chemical properties of the mutant proteins correlate with the clinical phenotype of medium chain acyl-CoA dehydrogenase (MCAD) deficiency. When the gene for K364R was overexpressed inEscherichia coli, the syn-thesized mutant protein only exhibited activity when the gene for chapero-nin GroELS was co-overexpressed.
9p fptmusic 12-04-2013 42 1 Download
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While cardiac hypertrophy elicited by pathological stimuli eventually leads to cardiac dysfunction, exercise-induced hypertrophy does not. This sug-gests that a beneficial hypertrophic phenotype exists. In search of an under-lying molecular substrate we used microarray technology to identify cardiac gene expression in response to exercise. Rats exercised for seven weeks on a treadmill were characterized by invasive blood pressure mea-surements and echocardiography.
12p awards 06-04-2013 34 2 Download
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Lack of functional Fragile X mental retardation protein (FMRP) is the pri-mary cause of the Fragile-mental retardation syndrome in humans. In most cases, the disease results from transcriptional silencing of fragile mental retardation gene 1, fmr1, which encodes FMRP. However, a single mis-sense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.
0p awards 05-04-2013 37 1 Download
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Mitochondrial fatty acid oxidation deficiencies are due to genetic defects in enzymes of fatty acidb-oxidation and transport proteins.Genetic defects have been identified in most of the genes where nearly all types of sequence vari-ations (mutation types) have beenassociatedwithdisease.In this paper, we will discuss the effects of the various types of sequence variations encountered and review current know-ledge regarding the genotype–phenotype relationship, espe-cially in patients with acyl-CoA dehydrogenase deficiencies where sufficient material exists for a meaningful discussion....
13p dell39 03-04-2013 47 2 Download
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Epigenetics refers to heritable phenotypic alterations in the absence of DNA sequence changes, and DNA methylation is one of the extensively studied epigenetic alterations. DNA methylation is an evolutionally con-served mechanism to regulate gene expression in mammals.
7p media19 06-03-2013 34 2 Download
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Anti-viral state segregates two molecular phenotypes of pancreatic adenocarcinoma: potential relevance for adenoviral gene therapy
11p dauphong4 03-01-2012 48 4 Download
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Tuyển tập các báo cáo nghiên cứu về hóa học được đăng trên tạp chí sinh học quốc tế đề tài : Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis
12p dauphong3 03-01-2012 90 4 Download
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Molecular characterization of a rice mutator-phenotype derived from an incompatible cross-pollination reveals transgenerational mobilization of multiple transposable elements and extensive epigenetic instability
12p panasonic06 25-12-2011 36 2 Download
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Department of Genome Sciences, Life Sciences Division, Lawrence Berkeley National Laboratory, One Cyclotron Rd, Berkeley, CA 94720, USA. †Department of Biology, University of Pennsylvania, 324 Leidy Laboratories, Philadelphia, PA 19104, USA. ‡Center for Integrative Genomics, Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA. §Current address: Department of Genetics, Washington University, 4566 Scott Ave, St. Louis, MO 63110, USA. Correspondence: Justin C Fay. E-mail: jfay@genetics.wustl.
0p thulanh21 15-11-2011 58 2 Download