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https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#1
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28547909/identification-and-expression-of-conserved-and-novel-rna-variants-of-medaka-pax6b-gene
#2
Tiansheng Chen, Benzion Cavari, Manfred Schartl, Yunhan Hong
Gene duplication is a major driving force of evolution. How gene duplicates have evolved remains a mystery. A highly conserved gene such as Pax6 is an ideal model to study functional conservation and divergence via comparisons among diverse organisms. One pax6 gene has been characterized in the Japanese medaka (Oryzias latipes), which is annotated as pax6b on chromosome 3. Here, we report that Medaka pax6b is homolog to Pax6 of mammals in sequence, chromosomal synteny, and genomic organization. Cloning and sequencing led to the identification of up to 43 pax6b RNA variants predicting six protein isoforms, 22 of which are similar to those reported in other organisms and 21 represent novel RNA variants...
May 26, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28547583/genome-wide-identification-and-characterization-of-phospholipase-c-gene-family-in-cotton-gossypium-spp
#3
Bing Zhang, Yanmei Wang, Jin-Yuan Liu
Phospholipase C (PLC) are important regulatory enzymes involved in several lipid and Ca(2+)-dependent signaling pathways. Previous studies have elucidated the versatile roles of PLC genes in growth, development and stress responses of many plants, however, the systematic analyses of PLC genes in the important fiber-producing plant, cotton, are still deficient. In this study, through genome-wide survey, we identified twelve phosphatidylinositol-specific PLC (PI-PLC) and nine non-specific PLC (NPC) genes in the allotetraploid upland cotton Gossypium hirsutum and nine PI-PLC and six NPC genes in two diploid cotton G...
May 19, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28547520/small-scale-intraspecific-patterns-of-adaptive-immunogenetic-polymorphisms-and-neutral-variation-in-lake-superior-lake-trout
#4
Shauna M Baillie, Riley R Hemstock, Andrew M Muir, Charles C Krueger, Paul Bentzen
Many fishes express high levels of intraspecific variability, often linked to resource partitioning. Several studies show that a species' evolutionary trajectory of adaptive divergence can undergo reversals caused by changes in its environment. Such a reversal in neutral genetic and morphological variation among lake trout Salvelinus namaycush ecomorphs appears to be underway in Lake Superior. However, a water depth gradient in neutral genetic divergence was found to be associated with intraspecific diversity in the lake...
May 25, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28546883/how-much-do-we-know-about-adult-onset-primary-tics-prevalence-epidemiology-and-clinical-features
#5
REVIEW
Daphne Robakis
BACKGROUND: Tic disorders are generally considered to be of pediatric onset; however, reports of adult-onset tics exist in the literature. Tics can be categorized as either primary or secondary, with the latter being the larger group in adults. Primary or idiopathic tics that arise in adulthood make up a subset of tic disorders whose epidemiologic and clinical features have not been well delineated. METHODS: Articles to be included in this review were identified by searching PubMed, SCOPUS, and Web of Science using the terms adult- and late-onset tics, which resulted in 120 unique articles...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28546726/internal-jugular-vein-duplication-review-and-classification
#6
Sandeep P Nayak, Mohammed Ashraf, Aniruddha Dam, Jaydip Biswas
Internal jugular vein duplication (IJVD) is a rare phenomenon. Twenty-one such instances in 18 individuals have been reported to date. We report an intra-operative case of unilateral IJVD in a 32-year-old male, who was operated for cancer of gingivobuccal sulcus. We have reviewed the published literature and have proposed a classification scheme in order to make future reporting systematic. The condition has been classified into type A, B and C based on their morphology. About 75 % of the reported cases are of Type A...
June 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28546680/the-impact-of-the-yogic-lifestyle-on-cancer-prognosis-and-survival-can-we-target-cancer-stem-cells-with-yoga
#7
Kavita Beri
Cancer has recently been known to originate from stem cell-like cells, called cancer stem cells (CSCs). Their unique properties of self-duplication, multiplication, as well as migration give the CSC resistance over conventional cancer therapies. Newer therapies are in developmental stage to target these stem cell-like populations and become the vanguard of future treatments. Several complementary and alternative treatments have been used in cancer management as an adjunct to conventional therapy to improve the overall quality of life and reduce recurrence...
May 2017: International Journal of Yoga
https://www.readbyqxmd.com/read/28546386/assessment-of-gene-flow-between-gossypium-hirsutum-and-gossypium-herbaceum-evidence-of-unreduced-gametes-in-the-diploid-progenitor
#8
E Montes, O Coriton, F Eber, V Huteau, J M Lacape, C Reinhardt, D Marais, J L Hofs, A M Chèvre, C Pannetier
In the framework of a gene flow assessment, we investigated the natural hybridization rate between Gossypium hirsutum (AADD genome) and G. herbaceum (AA genome). The latter species, a diploid progenitor of G. hirsutum, is spontaneously present in South Africa. Reciprocal crosses were performed without emasculation between G. herbaceum and G. hirsutum Neither examination of the morphological characteristics nor flow cytometry analysis of the 335 plants resulting from the G. hirsutum x G. herbaceum cross showed any hybrid features...
May 25, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28546004/a-transfer-rna-gene-rearrangement-in-the-lepidopteran-mitochondrial-genome
#9
Qiu-Ning Liu, Zhao-Zhe Xin, Xiao-Yu Zhu, Xin-Yue Chai, Xiao-Ming Zhao, Chun-Lin Zhou, Bo-Ping Tang
Gene arrangements in the mitochondrial genomes (mitogenomes) of insects are conserved across the major lineages, but can be rearranged within derived groups and may provide valuable phylogenetic characters. In this study, we sequenced the entire mitogenome of Parasa consocia, a moth of the family Limacodidae (Lepidoptera: Zygaenoidea). Compared with other lepidopterans and ancestral insects, the P. consocia mitogenome features a transfer RNA gene arrangement novel among lepidopterans between the ND3 and ND5 genes: RANSEF (the underline signifies an inverted gene), which differs from the ARNSEF arrangement of ancestral insects...
May 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28545255/frozen-accident-pushing-50-stereochemistry-expansion-and-chance-in-the-evolution-of-the-genetic-code
#10
Eugene V Koonin
Nearly 50 years ago, Francis Crick propounded the frozen accident scenario for the evolution of the genetic code along with the hypothesis that the early translation system consisted primarily of RNA. Under the frozen accident perspective, the code is universal among modern life forms because any change in codon assignment would be highly deleterious. The frozen accident can be considered the default theory of code evolution because it does not imply any specific interactions between amino acids and the cognate codons or anticodons, or any particular properties of the code...
May 23, 2017: Life
https://www.readbyqxmd.com/read/28545147/chromosome-divergence-during-evolution-of-the-tetraploid-clawed-frogs-xenopus-mellotropicalis-and-xenopus-epitropicalis-as-revealed-by-zoo-fish
#11
Martin Knytl, Ondřej Smolík, Svatava Kubíčková, Tereza Tlapáková, Ben J Evans, Vladimír Krylov
Whole genome duplication (WGD) generates new species and genomic redundancy. In African clawed frogs of the genus Xenopus, this phenomenon has been especially important in that (i) all but one extant species are polyploid and (ii) whole genome sequences of some species provide an evidence for genomic rearrangements prior to or after WGD. Within Xenopus in the subgenus Silurana, at least one allotetraploidization event gave rise to three extant tetraploid (2n = 4x = 40) species-Xenopus mellotropicalis, X. epitropicalis, and X...
2017: PloS One
https://www.readbyqxmd.com/read/28544882/inference-and-evolutionary-analysis-of-genome-scale-regulatory-networks-in-large-phylogenies
#12
Christopher Koch, Jay Konieczka, Toni Delorey, Ana Lyons, Amanda Socha, Kathleen Davis, Sara A Knaack, Dawn Thompson, Erin K O'Shea, Aviv Regev, Sushmita Roy
Changes in transcriptional regulatory networks can significantly contribute to species evolution and adaptation. However, identification of genome-scale regulatory networks is an open challenge, especially in non-model organisms. Here, we introduce multi-species regulatory network learning (MRTLE), a computational approach that uses phylogenetic structure, sequence-specific motifs, and transcriptomic data, to infer the regulatory networks in different species. Using simulated data from known networks and transcriptomic data from six divergent yeasts, we demonstrate that MRTLE predicts networks with greater accuracy than existing methods because it incorporates phylogenetic information...
May 24, 2017: Cell Systems
https://www.readbyqxmd.com/read/28544834/in-vitro-pulsatile-flow-measurement-in-prosthetic-heart-valves-an-inter-laboratory-comparison
#13
Stephen M Retta, Jeff Kepner, Salvador Marquez, Bruce A Herman, Mark C S Shu, Laurence W Grossman
BACKGROUND AND AIM OF STUDY: One of the first steps in qualifying a new prosthetic valve for eventual clinical use is preclinical flow performance testing in vitro. Such testing is typically performed in an in-vitro test system that simulates the pumping mechanics of the left ventricle of the heart, generally referred to as a pulse duplicator or duplicator. Historically, test results in these systems have varied from duplicator to duplicator. This collaborative effort between heart valve manufacturers and the Food and Drug Administration (FDA) was designed to evaluate the variability of the pulse duplicator test technology for pulsatile flow performance measurement in an interlaboratory round robin...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28544683/comprehensive-genetic-study-of-cystic-fibrosis-in-slovak-patients-in-25-years-of-genetic-diagnostics
#14
Andrea Soltysova, Eva Tothova Tarova, Andrej Ficek, Marian Baldovic, Helena Polakova, Hana Kayserova, Ludevit Kadasi
INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study presents comprehensive mutation screening of the CFTR gene; with 275 unrelated, clinically confirmed and treated cystic fibrosis (CF) patients diagnosed in 25 years genetic testing in Slovakia...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28544607/spotted-gar-and-the-evolution-of-innate-immune-receptors
#15
Dustin J Wcisel, Tatsuya Ota, Gary W Litman, Jeffrey A Yoder
The resolution of the gar genome affords an opportunity to examine the diversification and functional specialization of immune effector molecules at a distant and potentially informative point in phylogenetic development. Although innate immunity is effected by a particularly large number of different families of molecules, the focus here is to provide detailed characterization of several families of innate receptors that are encoded in large multigene families, for which orthologous forms can be identified in other species of bony fish but not in other vertebrate groups as well as those for which orthologs are present in other vertebrate species...
May 24, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28544363/expression-patterns-of-sterol-transporters-npc1-and-npc2-in-the-cnidarian-dinoflagellate-symbiosis
#16
Vincent Dani, Fabrice Priouzeau, Marjolijn Mertz, Magali Mondin, Sophie Pagnotta, Sandra Lacas-Gervais, Simon K Davy, Cécile Sabourault
The symbiotic interaction between cnidarians (e.g. corals and sea anemones) and photosynthetic dinoflagellates of the genus Symbiodinium is triggered by both host-symbiont recognition processes and metabolic exchange between the two partners. The molecular communication is crucial for homeostatic regulation of the symbiosis, both under normal conditions and during stresses that further lead to symbiosis collapse. It is therefore important to identify and fully characterize the key players of this intimate interaction at the symbiotic interface...
May 22, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#17
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28542513/structural-features-of-phox-one-of-the-phosphate-binding-proteins-from-pho-regulon-of-xanthomonas-citri
#18
Vanessa R Pegos, Rodrigo M L Santos, Francisco J Medrano, Andrea Balan
In Escherichia coli, the ATP-Binding Cassette transporter for phosphate is encoded by the pstSCAB operon. PstS is the periplasmic component responsible for affinity and specificity of the system and has also been related to a regulatory role and chemotaxis during depletion of phosphate. Xanthomonas citri has two phosphate-binding proteins: PstS and PhoX, which are differentially expressed under phosphate limitation. In this work, we focused on PhoX characterization and comparison with PstS. The PhoX three-dimensional structure was solved in a closed conformation with a phosphate engulfed in the binding site pocket between two domains...
2017: PloS One
https://www.readbyqxmd.com/read/28542282/expression-patterns-of-members-of-the-ethylene-signaling-related-gene-families-in-response-to-dehydration-stresses-in-cassava
#19
Meng Yun Ren, Ren Jun Feng, Hou Rui Shi, Li Fang Lu, Tian Yan Yun, Ming Peng, Xiao Guan, Heng Zhang, Jing Yi Wang, Xi Yan Zhang, Cheng Liang Li, Yan Jun Chen, Peng He, Yin Dong Zhang, Jiang Hui Xie
Drought is the one of the most important environment stresses that restricts crop yield worldwide. Cassava (Manihot esculenta Crantz) is an important food and energy crop that has many desirable traits such as drought, heat and low nutrients tolerance. However, the mechanisms underlying drought tolerance in cassava are unclear. Ethylene signaling pathway, from the upstream receptors to the downstream transcription factors, plays important roles in environmental stress responses during plant growth and development...
2017: PloS One
https://www.readbyqxmd.com/read/28541905/inferring-gene-species-assignments-in-the-presence-of-horizontal-gene-transfer
#20
Agnieszka Mykowiecka, Pawel Szczesny, Pawel Gorecki
BACKGROUND: Microbial communities from environmental samples show great diversity as bacteria quickly response to changes in their ecosystems. To assess the scenario of the actual changes, metagenomics experiments aimed at sequencing genomic DNA from such samples are performed. These new obtained sequences together with already known are used to infer phylogenetic trees assessing the taxonomic groups the species with these genes belong to. Here we propose the first approach to the gene-species assignment problem by using reconciliation with horizontal gene transfer...
May 24, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
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