Polimorfisme Gen Apolipoprotein E Pada Penderita Sindrom Down Trisomi 21 by Malinda Meinapuri

“…<br />Abstract<br />Backgrounds :Down syndrome is an abnormal chromosomal condition, characterized by the presence of all (trisomy 21) or part (such as due to translocations) of a third copy of chromosome 21. …”
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Spectral Quantitative Analysis Model with Combining Wavelength Selection and Topology Structure Optimization by Qian Wang, Boyan Cai, Yajie Yu, Hui Cao

“…For the proposed method, backpropagation neural network is adopted for building the component prediction model, and the simultaneousness optimization of the wavelength selection and the topology structure of neural network is realized by nonlinear adaptive evolutionary programming (NAEP). The hybrid chromosome in binary scheme of NAEP has three parts. …”
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Regulation of Expression of Oxacillin-Inducible Methionine Sulfoxide Reductases in Staphylococcus aureus by Kyle R. Baum, Zulfiqar Ahmad, Vineet K. Singh

“…To understand the regulation of this locus, reporter strains were constructed by integrating a DNA fragment consisting of the msrA1/msrB promoter in front of a promoterless lacZ gene in the chromosome of wild-type and MsrA1-, MsrB-, MsrA1/MsrB-, and SigB-deficient methicillin-sensitive S. aureus strain SH1000 and methicillin-resistant S. aureus strain COL. …”
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Mutation at the Human D1S80 Minisatellite Locus by Kuppareddi Balamurugan, Martin L. Tracey, Uwe Heine, George C. Maha, George T. Duncan

“…This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. …”
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Crop pangenomes by A. Yu. Pronozin, M. K. Bragina, E. A. Salina

“…Progress in genome sequencing, assembly and analysis allows for a deeper study of agricultural plants’ chromosome structures, gene identif ication and annotation. …”
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THE HETEROPLASMIC AND HOMOPLASMIC STATES OF MITOCHONDRIAL AND CHLOROPLAST DNA REGIONS IN THE PROGENIES OF WIDE HYBRIDS OF COMMON WHEAT OF DIFFERENT ORIGINS by N. V. Trubacheeva, L. A. Kravtsova, E. P. Devyatkina, T. T. Efremova, M. G. Sinyavskaya, V. K. Shumny, L. A. Pershina

“…It has been found that the transition of mt- and cpDNA heteroplasmy, barley homoplasmy of chloroplast regions to wheat homoplasmy is associated with complete fertility restoration and barley chromosome elimination from the newly developed nuclear genomes of alloplasmic lines.…”
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Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

“…Parental testing excluded the maternal uniparental disomy of chromosome 7, suggesting an epigenetic mechanism. The findings were consistent with a clinical diagnosis of SRS, and appropriate counseling and multidisciplinary management were initiated. …”
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Genome-Wide Association Study Identifies Candidate Loci Associated with Platelet Count in Koreans by Ji Hee Oh, Yun Kyoung Kim, Sanghoon Moon, Young Jin Kim, Bong-Jo Kim

“…We identified genetic associations between platelet count and common variants nearby chromosome 4p16.1 (p = 1.46 × 10-10, in the KIAA0232 gene), 6p21 (p = 1.36 × 10-7, in the BAK1 gene), and 12q24.12 (p = 1.11 × 10-15, in the SH2B3 gene). …”
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Spontaneous and environment induced genomic alterations in yeast model by Ke-Jing Li, Lei Qi, Ying-Xuan Zhu, Min He, Qian Xiang, Dao-Qiong Zheng

“…The budding yeast Saccharomyces cerevisiae serves as an exemplary model for investigating the mechanisms behind various genomic alterations, including point mutations, chromosomal rearrangements, and whole-chromosome aneuploidy. …”
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Adaptive genetic algorithm based deep feature selector for cancer detection in lung histopathological images by Avigyan Roy, Priyam Saha, Nandita Gautam, Friedhelm Schwenker, Ram Sarkar

“…Here, we calculate the fitness score of each chromosome (i.e., a candidate solution) using a filter method, instead of a classifier. …”
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Uncovering the genetic basis of milk production traits in Mexican Holstein cattle based on individual markers and genomic windows. by José G Cortes-Hernández, Adriana García-Ruiz, Francisco Peñagaricano, Hugo H Montaldo, Felipe J Ruiz-López

“…A total of 162 markers were significantly associated (p<0.01) with the phenotypic traits evaluated, and the SNP markers were distributed across chromosomes 1, 3, 5, 6, 10, 12, 14, 16, 18, 20, 22, and 29. …”
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Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene by Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

“…Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. …”
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Water Quality of Urban Streams: The Allium cepa Seeds/Seedlings Test as a Tool for Surface Water Monitoring by Camila Gonçalves Athanásio, Daniel Prá, Alexandre Rieger

“…All samples increased the frequency of chromosome aberrations (P<0.05). The sample from Pedras downstream site also caused a decrease in mitotic index (P<0.08) and increase in micronuclei (P<0.08) frequency, indicating potential cytotoxicity and mutagenicity. …”
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CUZD1 and Anti-CUZD1 Antibodies as Markers of Cancer and Inflammatory Bowel Diseases by Christos Liaskos, Eirini I. Rigopoulou, Timoklia Orfanidou, Dimitrios P. Bogdanos, Christos N. Papandreou

“…Human CUZD1 is mapped at chromosome 10q26.13 and the loss of this region is a frequent event in various malignant tumours. mRNA overexpression of CUZD1 has been noted in ovarian cancer and serum levels of CUZD1 are elevated in women with ovarian cancer and patients suffering from pancreatic cancer. …”
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NCK2 Is Significantly Associated with Opiates Addiction in African-Origin Men by Zhifa Liu, Xiaobo Guo, Yuan Jiang, Heping Zhang

“…By employing both SNP- and gene-based methods of analysis, we identified a strong (odds ratio = 13.87) and significant (P value = 1.33E−11) association of an SNP in the NCK2 gene on chromosome 2 with opiates addiction in African-origin men. …”
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Evaluation of Possible Genotoxic Activity of Dirithromycin in Cultured Human Lymphocytes by Ahmet Kayraldız, Lale Dönbak, Ayşe Yavuz Kocaman, Esra Köker, Şule Gökçe

“…In the present study, the possible genotoxicity of dirithromycin was evaluated in cultured human lymphocytes by using sister chromatid exchanges (SCEs), chromosome aberration (CA), and micronucleus (MN) tests and also cell proliferation kinetics such as mitotic index (MI), replication index (RI), and nuclear division index (NDI) were analyzed for cytotoxicity. …”
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Elevated Aminotransferase Activity as an Indication of Muscular Dystrophy: Case Reports and Review of the Literature by S Zamora, C Adams, JD Butzner, H Machida, Rb Scott

“…All five were later diagnosed with X chromosome-linked muscular dystrophy. The serum level of ALT, generally considered to be specific for hepatocellular injury, was increased two to 25 times above normal in all the reported cases. …”
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Effects of Single Nucleotide Polymorphism Marker Density on Haplotype Block Partition by Sun Ah Kim, Yun Joo Yoo

“…We used several experimental datasets obtained by sampling subsets of single nucleotide polymorphism (SNP) markers of chromosome 22 region in the 1000 Genomes Project data and also the HapMap phase 3 data to compare the results of haplotype block partitions by five methods. …”
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Microduplication of 3p26.3 Implicated in Cognitive Development by Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love

“…Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype.…”
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Screening and marker trait association for salinity tolerance in rice (Oryza sativa L.) by P. Hima Bindu1*, G. Shiva Prasad2, R.M. Sundaram3, K. Sumalini1 and C.H. Damodar Raju4

“…Nine of the 16 polymorphic markers RM3412, RM10843, RM562, RM10793, RM 10748, RM8094, RM10694, RM1287 and RM493 showed statistically significant marker-trait relationships, suggesting the presence of important putative genetic loci linked to chromosome 1 with ability to withstand salinity. The range of 1.0% to 24.9% for the percentage of total variance of phenotype explained by the relevant markers indicates the dependability of these genetic markers for enhancing breeding for salinity tolerance. …”
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