Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts by D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood, T. P. Slavin

“…The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. …”
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Archived Cytogenetic Cell Pellets Used to Detect a BCR::ABL1 Driver Mutation Eight Years before Disease Presentation by Ramakrishnan Sasi, Michelle Spruill, Peter L. Perrotta

“…Both karyotype and FISH analysis identified the t(9;22)(q34;q11.2) translocation resulting in the Philadelphia chromosome formation in 98.5% of cells analyzed. The patient responded to imatinib and achieved a sustained complete hematologic and cytogenetic remission. …”
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Novel candidate genes and genetic basis analysis of kernel starch content in tropical maize by Xiaoping Yang, Ranjan K. Shaw, Linzhuo Li, Fuyan Jiang, Xingming Fan

“…Combined GWAS and QTL analyses led to the identification of two candidate genes, Zm00001d012005 and Zm00001d012687 located on chromosome 8. Conclusions The candidate gene Zm00001d012005 encodes histidine kinase, which is known to play a role in starch accumulation in rice spikes. …”
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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

“…The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. …”
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Trajectory of human migration: insights from autosomal and non-autosomal variant clustering patterns by Samayeta Sarkar Tuli, Joyatry Sarker, Mrinmoy Saha Roddur, Anik Biswas, Reefa Nawar, Tahmina Akter, Md. Wahid Murad, Abu Ashfaqur Sajib

“…Moreover, the genetic markers on the Y chromosome constitute only a minor fraction of the entire human genome. …”
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Genome-Wide Identification and Expression Analysis of the <i>ALDH</i> Gene Family in <i>Sinonovacula constricta</i> Bivalve in Response to Acute Hypersaline Stress by Jianing Yu, Biao Wu, Yinghui Dong, Zhihua Lin, Hanhan Yao

“…These genes are located on eight chromosomes, with tandem duplications observed on chromosome 10; they encode mostly acidic and hydrophilic proteins. …”
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Congenital Chylothorax: Case Report by Egemen Tolunay, Bulut Varlı, Fırat Tülek, Emre Pabuçcu, Şerife Esra Çetinkaya, Korhan Kahraman, Acar Koç

“…Fetal thoracentesis revealed lymphocyte predominance and chylothorax was diagnosed. Chromosome analysis, metabolic screening and TORCH screening were normal. …”
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Localization of the quantitative trait loci related to lodging resistance in spring bread wheat (<i>Triticum aestivum</i> L.) by I. N. Leonova, E. V. Ageeva

“…No chromosome regions colocalized with the QTLs associated with lodging resistance or upper internode diameter were found. …”
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Enhancers and genome conformation provide complex transcriptional control of a herpesviral gene by David W Morgens, Leah Gulyas, Xiaowen Mao, Alejandro Rivera-Madera, Annabelle S Souza, Britt A Glaunsinger

“…Here, we illustrate this by combining high-density functional genomics, expression profiling, and viral-specific chromosome conformation capture to define with unprecedented detail the transcriptional regulation of a single gene from Kaposi’s sarcoma-associated herpesvirus (KSHV). …”
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Molecular cloning of EZH2 oncogene in chronic myeloid leukemia and therapeutic prospects by Juliana Costa Gaspar, Lucas Santos de Santana, Camila Menezes Freire de Souza, Marcos Montani Caseiro, Rosane Rezende de Souza Giuliani, Cleide Barbieri de Souza

“…Chronic myeloid leukemia (CML) is a myeloproliferative neoplasia, caused in 95 % of the cases by a cytogenetic abnormality characterized by the reciprocal translocation between chromosomes 9 and 22 t(9; 22) (q34; q11), resulting in Philadelphia chromosome (Ph).Considering that CML cure is only possible with a successful bone marrow transplantation and that there are resistance cases to the tyrosine kinase inhibitor Imatinib Mesylate, prescribed in first line drug treatment; it is important to know in detail the genes and proteins that are possibly altered in CML, favoring effective therapeutic strategies, optimized diagnosis and minimal residual disease detection. …”
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Exploring proteins within the coccolith matrix by Craig J. Dedman, Nishant Chauhan, Alba González-Lanchas, Chloë Baldreki, Adam A. Dowle, Tony R. Larson, Renee B. Y. Lee, Rosalind E. M. Rickaby

“…Notably, several protein features were consistently seen across the examined coccolithophore species, including the cell signalling 14-3-3 domain, chromosome segregation SMC ATPase domain, as well as proteins involved in protein processing and protease inhibition. …”
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The role of aTp-dependent chromatin remodeling factors in chromatin assembly in vivo by Iu. A. Il’ina, A. Yu. Konev

“…Chromatin assembly is a fundamental process essential for chromosome duplication subsequent to DNA replication. …”
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Variability of morphological features and nuclear DNA content in haploids and doubled haploids of androgenic callus lines of rice (<I>Oryza sativa</I> L.) by M. V. Ilyushko, M. V. Skaptsov, M. V. Romashova

“…Aneuhaploid evolution explains the intraspecific variability of chromosome numbers among plant species with low ploidy. …”
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The study of genetic factors that determine the awned glume trait in bread wheat by O. B. Dobrovolskaya, A. E. Dresvyannikova, E. D. Badaeva, K. I. Popova, M. Trávníčková, P. Martinek

“…The gene for the awned glume trait of CD 1167-8 was mapped in the long arm of chromosome 5A, using the Illumina Infinium 15K Wheat Array (TraitGenetics GmbH), containing 15,000 SNPs associated with wheat genes. …”
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Haploid biotechnology as a tool for creating a selection material for sugar beets by E. O. Kolesnikova, E. I. Donskikh, R. V. Berdnikov

“…There are several methods for obtaining forms with a single set of chromosomes. For sugar beets, the use of gynogenesis turned out to be expedient, since in this case the other methods turned out to be ineffective in the mass production of haploids. …”
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Exploring genetic structures and shared sites between alcohol, cheese intake, and inflammatory bowel disease by Zhifang Huang, Weichao Yuan

“…In the local genetic analysis, chromosome 16 emerged as a key region implicated in the relationship between alcohol and cheese intake and IBD (including both CD and UC). …”
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New genetic resources in wheat breeding for an increased grain protein content by O. P. Mitrofanova, A. G. Khakimova

“…Moreover, Gpc-A1, Gpc-D1, and Gpc-2 wheat genes have been found in chromosomes 6A, 6D and homeologous group 2, respectively. …”
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Effects of limited introgressions from Triticum timopheevii Tausch. into the genome of bread wheat (Triticum aestivum L.) on physiological and biochemical traits under normal water... by T. A. Pshenichnikova, A. V. Permyakov, S. V. Osipova, M. D. Permyakova, E. G. Rudikovskaya, V. V. Verchoturov

“…Line 821 was developed on the genetic background of cultivar Saratovskaya 29 (S29), which is drought-resistant but is very susceptible to diseases and carries big introgressions in 2A and 2B chromosomes and a small introgression in the subtelomeric region of 5A chromosome. …”
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Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome) by V.S. Berezenko, Yu.I. Proshchenko, Kh.Z. Mykhayluk, M.B. Dyba, O.M. Tkalik, Yu.O. Savenko

“…The diagnosis is made in the presence of a characteristic combination of exocrine pancreatic function disorders, hematologic manifestations (neutropenia, thrombocytopenia, anemia), skeletal abnormalities and is confirmed by molecular genetic testing (mutation in the SBDS gene, which is localized on 7q or 11 and inversion of the 9th chromosome pair). Early diagnosis and timely treatment prevent the onset of adverse symptoms and disability. …”
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Computer modeling of the peculiarities in the interaction of IL-1 with its receptors in schizophrenia by N. Yu. Chasovskikh, A. A. Bobrysheva, E. E. Chizhik

“…The NCBI Protein service was employed to search for and analyze the position of the identified polymorphisms on the chromosome. Structures for modeling were extracted from the Protein Data Bank database. …”
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