Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

“…ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. …”
Get full text

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. …”
Get full text

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. …”
Get full text

A single base pair substitution in zebrafish distinguishes between innate and acute startle behavior regulation. by Elelbin A Ortiz, Philip D Campbell, Jessica C Nelson, Michael Granato

“…Here, we identify a single base pair substitution on Chromosome 25 located within the coding sequence of the synaptotagmin 7a (syt7a) gene that is tightly linked to the escapist acoustic hypersensitivity phenotype. …”
Get full text

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. …”
Get full text

Pulmonary Talcosis in an Immunocompromised Patient by Thanh-Phuong Nguyen, Sowmya Nanjappa, Manjunath Muddaraju, John N. Greene

“…We report an 82-year-old man who is diagnosed with Philadelphia chromosome positive pre-B cell acute lymphoblastic leukemia (ALL) treated with palliative imatinib who presented with chronic hemoptysis and dyspnea shortly after his diagnosis. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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.…”
Get full text

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. …”
Get full text

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). …”
Get full text

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. …”
Get full text

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. …”
Get full text

Molecular markers and cytogenetics of Eleven O’Clock Portulaca umbraticola: a non-conventional edible ornamental crop by J. S. Souza, C. C. C. G. Nunes, M. M. Rêgo, A. M. S. Santos, C. A. P. S. Rodrigues, S. H. Unêda-Trevisoli, E. R. Rêgo

“…The species displayed considerable dissimilarity, with all 20 accessions showing 2n = 18 chromosomes, while P. oleracea had 2n = 52 chromosomes. …”
Get full text

Circular RNAs as a novel class of potential therapeutic and diagnostic biomarkers in reproductive biology/diseases by Wanyu Song, Xiuli Chen, Haiying Wu, Neda Rahimian

“…CircRNAs are integral pieces in multiple cellular functions, including moving substances within the nucleus, silencing one X chromosome, cell death, the ability of stem cells to differentiate into different cell types, and the process of gene expression inherited from parental genes. …”
Get full text

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. …”
Get full text

Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. by Qiao Fan, Xin Zhou, Chiea-Chuen Khor, Ching-Yu Cheng, Liang-Kee Goh, Xueling Sim, Wan-Ting Tay, Yi-Ju Li, Rick Twee-Hee Ong, Chen Suo, Belinda Cornes, Mohammad Kamran Ikram, Kee-Seng Chia, Mark Seielstad, Jianjun Liu, Eranga Vithana, Terri L Young, E-Shyong Tai, Tien-Yin Wong, Tin Aung, Yik-Ying Teo, Seang-Mei Saw

“…Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16-1.36), P(meta) = 7.87×10(-9)) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text