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https://www.readbyqxmd.com/read/29155751/dissection-and-immunofluorescent-staining-of-mushroom-body-and-photoreceptor-neurons-in-adult-drosophila-melanogaster-brains
#1
Seth M Kelly, Alexandra Elchert, Michael Kahl
Nervous system development involves a sequential series of events that are coordinated by several signaling pathways and regulatory networks. Many of the proteins involved in these pathways are evolutionarily conserved between mammals and other eukaryotes, such as the fruit fly Drosophila melanogaster, suggesting that similar organizing principles exist during the development of these organisms. Importantly, Drosophila has been used extensively to identify cellular and molecular mechanisms regulating processes that are required in mammals including neurogenesis, differentiation, axonal guidance, and synaptogenesis...
November 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155047/novel-mosaic-variants-in-two-patients-with-cornelia-de-lange-syndrome
#2
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, Sara Ruiz Gil, Erwan Watrin, Kerstin S Wendt, Ralf Werner, Tim M Strom, Gabriele Gillessen-Kaesbach, Frank J Kaiser
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Here we discuss the role of somatic mosaicism in CdLS and describe two additional patients with NIPBL mosaicism detected by targeted gene panel or exome sequencing...
November 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29153066/-age-related-prevalence-of-toxoplasmosis-among-pregnant-women-in-hatay-estimation-depending-on-model
#3
Meryem Çetin, Şirin Çetin
Toxoplasmosis, caused by the obligate intracellular protozoan Toxoplasma gondii, is a common parasitic infection affecting approximately one-third of the world population. T.gondii infections are usually acquired by ingesting raw or insufficiently cooked meat and from unwashed fruits and vegetables contaminated with soil or water with cat feces. Primary infection acquired during pregnancy can cause severe congenital abnormalities in the fetus such as neurologic and ocular malformations, abortion, or stillbirth according to the degree of infection...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29151316/frequencies-and-distributions-of-sex-chromosome-abnormalities-in-females-with-the-turner-phenotype-a-long-term-retrospective-study-in-the-southern-region-of-turkey
#4
Nilgün Tanrıverdi, Osman Demirhan, Dilara Süleymanova, Ayfer Pazarbaşı
Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85...
November 13, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29149746/habitat-mosaics-and-path-analysis-can-improve-biological-conservation-of-aquatic-biodiversity-in-ecosystems-with-low-head-dams
#5
Sean M Hitchman, Martha E Mather, Joseph M Smith, Jane S Fencl
Conserving native biodiversity depends on restoring functional habitats in the face of human-induced disturbances. Low-head dams are a ubiquitous human impact that degrades aquatic ecosystems worldwide. To improve our understanding of how low-head dams impact habitat and associated biodiversity, our research examined complex interactions among three spheres of the total environment. i.e., how low-head dams (anthroposphere) affect aquatic habitat (hydrosphere), and native biodiversity (biosphere) in streams and rivers...
November 14, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29147823/primary-peri-implant-oral-intra-epithelial-neoplasia-carcinoma-in-situ-a-case-report-considering-risk-factors-for-carcinogenesis
#6
Makoto Noguchi, Hiroaki Tsuno, Risa Ishizaka, Kumiko Fujiwara, Shuichi Imaue, Kei Tomihara, Takashi Minamisaka
BACKGROUND: Major risk factors for oral squamous cell carcinoma (SCC) are tobacco smoking, a betel quid chewing habit, and heavy alcohol consumption. However, around 15% of oral SCCs cannot be explained by these risk factors. Although oral SCC associated with dental implants is quite rare, there has been a recent gradual accumulation of reports about it. Here, we report a case of primary peri-implant oral intra-epithelial neoplasia/carcinoma in situ (OIN/CIS) in a woman without the major risk factors for oral SCC...
November 16, 2017: International Journal of Implant Dentistry
https://www.readbyqxmd.com/read/29147791/completed-sequence-and-corrected-annotation-of-the-genome-of-maize-iranian-mosaic-virus
#7
Abozar Ghorbani, Keramatollah Izadpanah, Ralf G Dietzgen
Maize Iranian mosaic virus (MIMV) is a negative-sense single-stranded RNA virus that is classified in the genus Nucleorhabdovirus, family Rhabdoviridae. The MIMV genome contains six open reading frames (ORFs) that encode in 3΄ to 5΄ order the nucleocapsid protein (N), phosphoprotein (P), putative movement protein (P3), matrix protein (M), glycoprotein (G) and RNA-dependent RNA polymerase (L). In this study, we determined the first complete genome sequence of MIMV using Illumina RNA-Seq and 3'/5' RACE. MIMV genome ('Fars' isolate) is 12,426 nucleotides in length...
November 16, 2017: Archives of Virology
https://www.readbyqxmd.com/read/29145576/different-filling-patterns-of-the-choriocapillaris-in-fluorescein-and-indocyanine-green-angiography-in-primate-eyes-under-elevated-intraocular-pressure
#8
Naoto Hanyuda, Hideo Akiyama, Yukitoshi Shimoda, Ryo Mukai, Morihiko Sano, Yoichiro Shinohara, Shoji Kishi
Purpose: To investigate the hemodynamics of the choriocapillaris in primate eyes under elevated intraocular pressure. Methods: Indocyanine green angiography (ICGA) and fluorescein angiography (FA) were performed in two monkeys after elevation of the intraocular pressure (IOP) to 35 and 60 mm Hg. Results: ICGA and FA showed no perfusion delays in the choriocapillaris at 35 mm Hg. The slow dye filling at 60 mm Hg made it possible to observe the early phase angiography sequence...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29142820/excessive-by-product-formation-a-key-contributor-to-low-isobutanol-yields-of-engineered-saccharomyces-cerevisiae-strains
#9
N Milne, S A Wahl, A J A van Maris, J T Pronk, J M Daran
It is theoretically possible to engineer Saccharomyces cerevisiae strains in which isobutanol is the predominant catabolic product and high-yielding isobutanol-producing strains are already reported by industry. Conversely, isobutanol yields of engineered S. cerevisiae strains reported in the scientific literature typically remain far below 10% of the theoretical maximum. This study explores possible reasons for these suboptimal yields by a mass-balancing approach. A cytosolically located, cofactor-balanced isobutanol pathway, consisting of a mosaic of bacterial enzymes whose in vivo functionality was confirmed by complementation of null mutations in branched-chain amino acid metabolism, was expressed in S...
December 2016: Metabolic Engineering Communications
https://www.readbyqxmd.com/read/29142202/genomic-mosaicism-in-paternal-sperm-and-multiple-parental-tissues-in-a-dravet-syndrome-cohort
#10
Xiaoxu Yang, Aijie Liu, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of DS in 112 families. Ten of the 56 paternal sperm samples were found to exhibit mosaicism of the proband's mutations, with mutant allelic fractions (MAFs) ranging from 0...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142194/transient-cardiomyocyte-fusion-regulates-cardiac-development-in-zebrafish
#11
Suphansa Sawamiphak, Zacharias Kontarakis, Alessandro Filosa, Sven Reischauer, Didier Y R Stainier
Cells can sacrifice their individuality by fusing, but the prevalence and significance of this process are poorly understood. To approach these questions, here we generate transgenic reporter lines in zebrafish to label and specifically ablate fused cells. In addition to skeletal muscle cells, the reporters label cardiomyocytes starting at an early developmental stage. Genetic mosaics generated by cell transplantation show cardiomyocytes expressing both donor- and host-derived transgenes, confirming the occurrence of fusion in larval hearts...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141686/anisotropic-m%C3%A3-ller-glial-scaffolding-supports-a-multiplex-lattice-mosaic-of-photoreceptors-in-zebrafish-retina
#12
Mikiko Nagashima, Jeremy Hadidjojo, Linda K Barthel, David K Lubensky, Pamela A Raymond
BACKGROUND: The multiplex, lattice mosaic of cone photoreceptors in the adult fish retina is a compelling example of a highly ordered epithelial cell pattern, with single cell width rows and columns of cones and precisely defined neighbor relationships among different cone types. Cellular mechanisms patterning this multiplex mosaic are not understood. Physical models can provide new insights into fundamental mechanisms of biological patterning. In earlier work, we developed a mathematical model of photoreceptor cell packing in the zebrafish retina, which predicted that anisotropic mechanical tension in the retinal epithelium orients planar polarized adhesive interfaces to align the columns as cone photoreceptors are generated at the retinal margin during post-embryonic growth...
November 15, 2017: Neural Development
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#13
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#14
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29140480/the-intrinsically-disordered-n-terminal-arm-of-the-brome-mosaic-virus-coat-protein-specifically-recognizes-the-rna-motif-that-directs-the-initiation-of-viral-rna-replication
#15
Alexander Jacobs, Haley Hoover, Edward Smith, David E Clemmer, Chul-Hyun Kim, C Cheng Kao
In the brome mosaic virus (BMV) virion, the coat protein (CP) selectively contacts the RNA motifs that regulate translation and RNA replication (Hoover et al., 2016. J. Virol. 90, 7748). We hypothesize that the unstructured N-terminal arm (NTA) of the BMV CP can specifically recognize RNA motifs. Using ion mobility spectrometry-mass spectrometry, we demonstrate that peptides containing the NTA of the CP were found to preferentially bind to an RNA hairpin motif that directs the initiation of BMV RNA synthesis...
November 11, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29140443/dc-sign-polymorphisms-associated-with-risk-of-hepatitis-c-virus-infection-among-men-who-have-sex-with-men-but-not-among-injecting-drug-users
#16
Gaby S Steba, Sylvie M Koekkoek, Joost W Vanhommerig, Kees Brinkman, David Kwa, Jan T M Van Der Meer, Maria Prins, Ben Berkhout, Michael Tanck, William A Paxton, Richard Molenkamp, Janke Schinkel
We aimed to identify whether genetic polymorphisms within L-SIGN or DC-SIGN correlate with HCV susceptibility. An MSM and an IDU cohort of HCV cases and multiple-exposed uninfected controls were genotyped for numerous L-SIGN and DC-SIGN polymorphisms. DC-SIGN SNPs -139, -871 and -939 correlate with HCV acquisition in the MSM cohort only. When the same SNPs were introduced into a transcription activity assay they demonstrated a reduction in expression with predicted alteration in binding of transcription factors...
November 13, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29140168/revisiting-the-roles-of-tobamovirus-replicase-complex-proteins-in-viral-replication-and-silencing-suppression
#17
Nachelli Malpica-López, Rajendran Rajeswaran, Daria Beknazariants, Jonathan Seguin, Victor Golyaev, Laurent Farinelli, Mikhail M Pooggin
Tobamoviral replicase possesses an RNA-dependent RNA polymerase (RDR) domain and is translated from genomic (g)RNA via a stop codon readthrough mechanism at a one-to-ten ratio relative to a shorter protein lacking the RDR domain. The two proteins share methyltransferase and helicase domains and form a heterodimer implicated in gRNA replication. The shorter protein is also implicated in suppressing RNA silencing-based antiviral defenses. Using a stop codon mutant of Oilseed rape mosaic tobamovirus (ORMV), we demonstrate that the readthrough replicase (p182) is sufficient for gRNA replication and for subgenomic RNA transcription during systemic infection in Nicotiana benthamiana and Arabidopsis thaliana...
November 15, 2017: Molecular Plant-microbe Interactions: MPMI
https://www.readbyqxmd.com/read/29138785/microstructural-metrology-of-tobacco-mosaic-virus-nanorods-during-radial-compression-and-heating
#18
C Riekel, M Burghammer, I Snigirev, M Rosenthal
We determined stress-induced deformations and the thermal stability of nanorod-shaped tobacco mosaic virus (TMV) capsids in coffee-ring structures by X-ray nanodiffraction. The hexagonal capsids lattice transforms under compression in the outer boundary zone of the coffee-ring into a tetragonal lattice. The helical pitch of the nanorods increases by about 2.5% across the outer boundary zone while the lateral distance between nanorods decreases continuously across the whole coffee-ring structure by about 2% due to compressive forces...
November 15, 2017: Soft Matter
https://www.readbyqxmd.com/read/29137657/p53-aberrations-in-low-grade-endometrioid-carcinoma-of-the-endometrium-with-nodal-metastases-possible-insights-on-pathogenesis-discerned-from-immunohistochemistry
#19
Oluwole Fadare, Vinita Parkash
BACKGROUND: TP53 mutations are rarely identified in low grade endometrioid carcinoma of the endometrium, and their pathogenic significance in such tumors is evidenced by the fact that TP53 aberrations have been associated with reduced recurrence-free survival in this subset of tumors. However, TP53 aberrations may not always represent a driving molecular event in a given endometrial cancer with a mutation. In this case study, the immunophenotype of a distinctive low grade endometrioid adenocarcinoma with an unusual pattern of lymph node metastases is used to explore the possible roles for underlying TP53-related molecular events in its pathogenesis...
November 14, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29137277/ningnanmycin-inhibits-tobacco-mosaic-virus-virulence-by-binding-directly-to-its-coat-protein-discs
#20
Xiangyang Li, Gefei Hao, Qingmin Wang, Zhuo Chen, Yan Ding, Lu Yu, Deyu Hu, Baoan Song
Tobacco mosaic virus (TMV) causes severe plant diseases worldwide; however, effective antiviral agents for controlling TMV infections are not available. This lack of effective antiviral agents is mainly due to the poor understanding of potential targets associated with TMV infections. During infection, the coat protein (CP), which is delivered by viral particles into susceptible host cells, provides protection for viral RNA. Here, we found that Ningnanmycin (NNM), a commercially used plant antibacterial agent, inhibits the assembly of the CP by directly binding several residues...
October 10, 2017: Oncotarget
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