Dermatoses na síndrome de down by Beatriz Elizabeth Bagatin Veleda Bermudez, Charles da Silva Gomes, Iolanda Maria Novadzki, Susana Girald

“…Down syndrome is the most common chromosomal disorder, affecting 1 in 700 live births. …”
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Exploratory analysis of molecular traits of the mitochondrial DNA of leafcutting ants to infer taxonomic characters towards an integrative taxonomy by Perpetua Ndubuisi Onyinyechi, Natália Martins Travenzoli, Maykon Passos Cristiano, Danon Clemes Cardoso

“…The molecular features of the mitogenome segments, along with other traits such as chromosome number, karyotype features, molecular phylogeny, and morphological data can be used in an integrative framework to access biodiversity and purpose taxonomic hypothesis.…”
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Joint optimization of dispersion matrix and 3D constellation for STSK system based on improved genetic algorithm by Xiaoping JIN, Jiayu LIU, Chen JIANG, Qiang GUO

“…Space-time shift keying (STSK) is a modulation scheme used in multi-input multi-output (MIMO) communication systems.It uses a pre-designed dispersion matrix set (DMS) to realize the flexible design of the system between multiplexing and diversity.An improved genetic algorithm (GA) was proposed to assist the joint optimization of DMS and 3D constellations, that is, the DMS and 3D constellations were jointly coded as the chromosome of GA , and the coding gain corresponding to the rank and determinant criterion was adopted as the overall fitness value.Through efficient selection and improved mutation and crossover strategies, DMS and 3D constellations with low bit error rate (BER) can be obtained.At the same time, the symmetry of the 3D constellation was used to greatly reduce the computational complexity of according to the fitness value the coding gain.The theoretical average paired error probability (ABEP) of the 3D STSK scheme was deducted.The simulation results show that, compared with the traditional GA and random search schemes, the improved GA proposed can significantly reduce the complexity of system implementation while ensuring BER performance.…”
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Adropin: a key player in immune cell homeostasis and regulation of inflammation in several diseases by Junmin Wang, Ning Ding, Chong Chen, Simin Gu, Jing Liu, Yanping Wang, Liubing Lin, Yiyuan Zheng, Yong Li

“…Adropin is a secreted peptide encoded by the energy homeostasis-associated gene (ENHO), located chromosome 9p13.3, with a conserved amino acid sequence across humans and mice. …”
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Trichoscopy in Unveiling the Triad of Netherton Syndrome by H Bangaru, D Ashwini

“…Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. Here, we present a case of a 16-year-old female born to second-degree consanguineous marriage who presented with a history of atopy, generalized xerosis, plaques with serpiginous borders, and double-edged scales over the trunk, upper and lower limbs, lichenification in flexures, sparse eyelashes, and eyebrows predominantly over lateral half was noted. …”
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Cloning a Chloroplast Genome in Saccharomyces cerevisiae and Escherichia coli by Emma Walker, Bogumil Karas

“…Prior to our work, the chloroplast genomes of Chlamydomonas reinhardtii (204 kb) and Zea mays (140 kb) had been cloned using bacterial and yeast artificial chromosome (BAC/YAC) libraries, respectively. These methods lack design flexibility as they are reliant upon the random capture of genomic fragments during BAC/YAC library creation; additionally, both demonstrated a low efficiency (≤ 10%) for correct assembly of the genome in yeast. …”
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Some Effective Tight-Binding Models for Electrons in DNA Conduction: A Review by Hiroaki Yamada, Kazumoto Iguchi

“…In addition, we investigated the localization properties of electronic states in several actual DNA sequences such as bacteriophages of Escherichia coli, human-chromosome 22, compared with those of the artificial disordered sequences with correlation. …”
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Iron-regulatory liver hormone hepcidin and its place in the system of congenital immunity by O. A. Smirnov

“…Hepcidin is coded by HAMP gene (Hepcidin Antimicrobial Peptide) in chromosome 19. Expression peptide mRNA in hepatocytes is induced by proinflammatory cytokines (IL-1α, IL-6 and TNF-α) similar to acute phase proteins of inflammation, and also by liver iron overload. …”
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Clinicopathological Features of Inflammatory Myofibroblastic Tumor in the Breast by Shifei Liu, Rui Yuan, Yulan Jin, Chunyan He, Xingzheng Zheng, Yang Zhan

“…The FISH test demonstrated ALK (2p23) chromosomal translocation (ALK positive). The final diagnosis of breast IMT was rendered with nonclassical morphology. …”
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Competence induction of homologous recombination genes protects pneumococcal cells from genotoxic stress by David De Lemos, Anne-Lise Soulet, Violette Morales, Mathieu Berge, Patrice Polard, Calum Johnston

“…Transformation involves the capture and internalization of exogenous DNA in the form of single strands, followed by HR-mediated chromosomal integration. In the human pathogen Streptococcus pneumoniae, transformation occurs during a transient, stress-induced differentiation state called competence. …”
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Diversity and Complexity of CTXΦ and Pre-CTXΦ Families in <em>Vibrio cholerae</em> from Seventh Pandemic by Xiaorui Li, Yu Han, Wenxuan Zhao, Yue Xiao, Siyu Huang, Zhenpeng Li, Fenxia Fan, Weili Liang, Biao Kan

“…We identified two CTXΦ members and six pre-CTXΦ members with distinct <i>rstR</i> alleles, revealing complex chromosomal DNA integration patterns and arrangements of different prophages in these strains. …”
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Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. by Rafael Pila Pérez, Víctor Adolfo Holguín Prieto, Leandro Segura Pujol

“…Approximately 60% of patients who suffer from it carry chromosome 17 duplication, which is why it has been considered very appropriate to convey the experience of this case.…”
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Oxidative stress induced protein aggregation via GGCT produced pyroglutamic acid in drug resistant glioblastoma by Deanna Tiek, Xiao Song, Xiaozhou Yu, Runxin Wu, Rebeca Iglesia, Alicia Catezone, Katy McCortney, Jordain Walshon, Craig Horbinski, Pouya Jamshidi, Rudolph Castellani, Robert Vassar, Jason Miska, Bo Hu, Shi-Yuan Cheng

“…Gamma (γ)-glutamylcyclotranserase (GGCT), an enzyme in the γ-glutamyl cycle for glutathione production, located on chromosome 7 which is commonly amplified in GBM is also increased upon resistance. …”
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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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Impact of HIV on HPV-related cancers in men who have sex with men: a review by Zixuan Zhang, Zixuan Zhang, Yuying Xing, Yuying Xing, Tingdan Gong, Wanlin Li, Siwei Zhang, Lanlan Wei

“…HIV-induced immune suppression may affect chromosomal stability, gene expression, protein function and other molecular components in MSM with HPV-related cancers. …”
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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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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes by Jesper Just, Lukas Ochsner Reynaud Ridder, Emma Bruun Johannsen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Helene Viborg Christensen, Kenneth Kjærgaard, Jacob Redder, Simon Chang, Kirstine Stochholm, Anne Skakkebæk, Claus Højbjerg Gravholt

“…All TS individuals lacked the X chromosome p-arm, and XIST expression from the q-arm did not affect the autosomal transcriptome or methylome, highlighting the critical role of the missing p-arm with its pseudoautosomal region 1. …”
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Toxin-antitoxin genes are differentially expressed in Escherichia coli relA and spoT mutans cultured under nitrogen, fatty acid, or carbon starvation conditions by Monika Maciąg-Dorszyńska, Paweł Olszewski, Monika Karczewska, Lidia Boss

“…., ghoST, ryeA), our data indicates that the general pattern of chromosomally encoded TA gene expression in E. coli differs depending on the nutrient distribution in the environment, regardless of the alarmone accumulation.…”
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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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Acromegaloid Facial Appearance: Case Report and Literature Review by Adline Ghazi, Shikha Khosla, Kenneth Becker

“…Her endocrine laboratory evaluation and chromosomal analyses were normal. AFA needs to be considered when evaluating any patient with pseudoacromegaly. …”
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