Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism by Deborah Chiabrando, Emanuela Tolosano

“…Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. …”
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Genome-Wide Association Study of Coronary Artery Disease by Naomi Ogawa, Yasushi Imai, Hiroyuki Morita, Ryozo Nagai

“…In 2007, three chip-based GWAS simultaneously revealed the significant association between common variants on chromosome 9p21 and CAD. This association was replicated among other ethnic groups and also in a meta-analysis. …”
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Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment by Anh Khoi Vo, Hilde Kollsete Gjelberg, Randi Hovland, Marte Karen Lindstad Brattås, Øystein Bruserud, Håkon Reikvam

“…We describe a 77-year-old male with primary, idiopathic PRCA and a deletion of chromosome 20q, del(20q), in the bone marrow cells. …”
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A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1 by Yoko Yamamoto, Ken Kodama, Shigekazu Yokoyama, Masashi Takeda, Shintaro Michishita

“…Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2). Loss of the gene function, due to a point mutation, leads to an increase in cell proliferation and the development of several tumors. …”
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A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression by Li Zhang, Zhen-Xia Wan, Jin-Yi Zhu, Hui-Juan Liu, Jin Sun, Xiao-Hui Zou, Ting Zhang, Yan Li

“…It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. …”
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A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations by Anita Sri, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali, Inga Voges

“…We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. …”
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Histone Deacetylases Inhibitors in the Treatment of Retinal Degenerative Diseases: Overview and Perspectives by Hua Zhang, Xufeng Dai, Yan Qi, Ying He, Wei Du, Ji-jing Pang

“…Histone acetylation and deacetylation can regulate chromosome assembly, gene transcription, and posttranslational modification, which are regulated by histone acetyltransferases (HATs) and histone deacetylases (HDACs), respectively. …”
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Disseminated Exfoliative Dermatitis Associated with All-Transretinoic Acid in the Treatment of Acute Promyelocytic Leukemia by Yonal Ipek, Dogru Hulya, Aktan Melih

“…Acute promyelocytic leukemia (APL) is a biologically and clinically separate type of acute myeloid leukemia characterized by a translocation involving the retinoic acid receptor-alpha (RARa) locus on chromosome 17, the great majority of which is t(15; 17)(q24.1; q21.1) (Collins (1998), Melnick and Licht (1999), and Grimwade (1999)). …”
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Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

“…In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.…”
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Minisatellite Isolation and Minisatellite Molecular Marker Development in <i>Citrus limon</i> (L.) Osbeck by Oleg S. Alexandrov, Dmitry V. Romanov

“…The obtained dataset includes sequences of extracted minisatellites and their characteristics (start and end nucleotide positions on the chromosome, length of monomer, number of repetitions and length of array), as well as sequences of developed primers, expected lengths of amplicons, and e-PCR results. …”
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Research on Loading and Unloading Resource Scheduling and Optimization of Rail–Road Transportation in Container Terminal Based on “Internet +” —for Ghana Container Port Development... by Qi Zhang, Adjei Courage Kwabla, Yanhui Zhuang, Mingjun Ling, Yuguang Wei, Hao Yang

“…In order to solve the model, a multi-layer coding genetic algorithm with chromosome feasibility is designed to obtain the optimal scheduled time for the truck, and the optimal operation sequence of the gantry crane. …”
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Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

“…Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. …”
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Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child by Inês Sobreira, Cátia Sousa, Ana Raposo, M. Rita Soares, Ana Soudo, Ana Isabel Dias

“…Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. …”
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An Integrated Metaheuristic Routing Method for Multiple-Block Warehouses with Ultranarrow Aisles and Access Restriction by Fangyu Chen, Gangyan Xu, Yongchang Wei

“…The ant colony optimization is mainly responsible for generating the initial chromosomes for the genetic algorithm, which then searches the near-optimal solutions of picker-routing with our novel chromosome design by recording the detailed information of access modes and subaisles. …”
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Optimized coverage algorithm of wireless video sensor network based on quantum genetic algorithm by Fu-you FAN, Guo-wu YANG, Qian-qi LE, Feng-mao LV, Chao ZHAO

“…According to the construction needs of the smart city wireless video sensor network,an optimized network coverage algorithm based on quantum genetic algorithm is proposed.The algorithm fits in with complicated monitoring scene which has some different obstacles and different degree of importance.The monitoring region is depicted by two-dimensional discrete grid model,and the discrete grid model is represented by a code description matrix.The directional wireless video sensor is described by a seven-tuples.The mathematical programming model of the coverage problem is obtained by strict mathematical derivation.The optimized coverage algorithm is comprised by IntialDeployment and OptimizedDeployment algorithms,which takes the maximum coverage rate network deployment scheme as the solving goal.The quantum genetic algorithm with reasonable chromosome coding and optimized quantum rotation gate parameter is used to search the solution space,which has a good convergence rate and a fast computation speed.Two limit values of ideal coverage rate and ideal weighted coverage rate are introduced to evaluate the algorithm by the way of relative comparison.The result of simulation experiments and data analyses show that the solutions worked out by the algorithm can well approximate the ideal limit value.When the number of sensor nodes is given,the algorithm can obtain the maximum effective coverage rate.…”
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Biochemical and Clinical Features of Insulinoma in a Patient with Turner Syndrome by Darius A. Schneider, M. Zare, F. Behnia, M. Matesan, T. Tylee

“…., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. …”
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Comprehensive genome annotation of Trilocha varians, a new model species of Lepidopteran insects by Jung Lee, Toshiaki Fujimoto, Katsushi Yamaguchi, Shuji Shigenobu, Ken Sahara, Toru Shimada

“…To facilitate further use of T. varians, we developed genome annotation information on the chromosome-scale assembly of T. varians previously published by our group. 9 RNA-seq datasets and 2 Iso-seq datasets were submitted for transcriptome-based gene prediction. …”
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From Abnormal Hippocampal Synaptic Plasticity in Down Syndrome Mouse Models to Cognitive Disability in Down Syndrome by Nathan Cramer, Zygmunt Galdzicki

“…Down syndrome (DS) is caused by the overexpression of genes on triplicated regions of human chromosome 21 (Hsa21). While the resulting physiological and behavioral phenotypes vary in their penetrance and severity, all individuals with DS have variable but significant levels of cognitive disability. …”
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Exploring effector protein dynamics and natural fungicidal potential in rice blast pathogen Magnaporthe oryzae. by Jannatul Ferdousy, Tanjin Barketullah Robin, Mst Sanjida Nasrin, Istiak Ahmed, Tawsif Hossain, Md Mehedi Hasan, Mehrab Hassan Soaeb, Md Ahsanul Tamim, Nusrat Jahan Yeasmin, Ummay Habiba, Nadim Ahmed, Nurul Amin Rani, Md Shishir Bhuyian, Suvarna N Vakare, Abu Tayab Moin, Rajesh B Patil, Mohammad Shahadat Hossain

“…These effector proteins interact with specific alleles of the Pik gene family on rice chromosome 11, modulating the host's immune response. …”
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Recent Insights into Antibiotic Resistance in Helicobacter pylori Eradication by Wenming Wu, Yunsheng Yang, Gang Sun

“…Many factors have been implicated as causes of treatment failure, but the main antibiotic resistance mechanisms described to date are due to point mutations on the bacterial chromosome, a consequence of a significantly phenotypic variation in H. pylori. …”
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