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https://www.readbyqxmd.com/read/28544751/constitutional-abnormalities-of-idh1-combined-with-secondary-mutations-predispose-a-patient-with-maffucci-syndrome-to-acute-lymphoblastic-leukemia
#1
Shinsuke Hirabayashi, Masafumi Seki, Daisuke Hasegawa, Motohiro Kato, Nobuyuki Hyakuna, Takuya Shuo, Shunsuke Kimura, Kenichi Yoshida, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Nobutaka Kiyokawa, Satoru Miyano, Seishi Ogawa, Junko Takita, Atsushi Manabe
Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells...
May 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28544249/37th-annual-david-w-smith-workshop-on-malformations-and-morphogenesis-abstracts-of-the-2016-annual-meeting
#2
Kim M Keppler-Noreuil, Julian A Martinez-Agosto, Louanne Hudgins, John C Carey
The 37th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on September 9th-14th, 2016 at the University of California-Los Angeles Conference Center in Lake Arrowhead, CA. The Workshop, which honors the legacy of David W. Smith, brought together clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis. The Workshop highlighted five themes besides mechanisms of morphogenesis and New Syndromes: Neural Crestopathies, Mosaicism, Disorders of Skin Pigmentation, Therapies, and Ear Malformations and Hearing Loss...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28542624/pathogenic-seedborne-viruses-are-rare-but-phaseolus-vulgaris-endornaviruses-are-common-in-bean-varieties-grown-in-nicaragua-and-tanzania
#3
Noora Nordenstedt, Delfia Marcenaro, Daudi Chilagane, Beatrice Mwaipopo, Minna-Liisa Rajamäki, Susan Nchimbi-Msolla, Paul J R Njau, Deusdedith R Mbanzibwa, Jari P T Valkonen
Common bean (Phaseolus vulgaris) is an annual grain legume that was domesticated in Mesoamerica (Central America) and the Andes. It is currently grown widely also on other continents including Africa. We surveyed seedborne viruses in new common bean varieties introduced to Nicaragua (Central America) and in landraces and improved varieties grown in Tanzania (eastern Africa). Bean seeds, harvested from Nicaragua and Tanzania, were grown in insect-controlled greenhouse or screenhouse, respectively, to obtain leaf material for virus testing...
2017: PloS One
https://www.readbyqxmd.com/read/28542161/land-use-history-and-population-dynamics-of-free-standing-figs-in-a-maturing-forest
#4
Larissa Albrecht, Robert F Stallard, Elisabeth K V Kalko
Figs (Ficus sp.) are often considered as keystone resources which strongly influence tropical forest ecosystems. We used long-term tree-census data to track the population dynamics of two abundant free-standing fig species, Ficus insipida and F. yoponensis, on Barro Colorado Island (BCI), a 15.6-km2 island in Lake Gatún, Panama. Vegetation cover on BCI consists of a mosaic of old growth (>400 years) and maturing (about 90-150 year old) secondary rainforest. Locations and conditions of fig trees have been mapped and monitored on BCI for more than 35 years (1973-2011), with a focus on the Lutz Catchment area (25 ha)...
2017: PloS One
https://www.readbyqxmd.com/read/28541405/reduction-of-rna-dependent-rna-polymerase-6-in-nicotiana-benthamiana-enhances-gene-silencing-induced-by-foxtail-mosaic-virus
#5
Faguang Chang, Zhouhang Gu, Pin Zhu, Ran Lu, Zhiyou Du, Qiansheng Liao
No abstract text is available yet for this article.
May 24, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/28537463/plant-bax-inhibitor-1-interacts-with-atg6-to-regulate-autophagy-and-programmed-cell-death
#6
Guoyong Xu, Shanshan Wang, Shaojie Han, Ke Xie, Yan Wang, Jinlin Li, Yule Liu
Autophagy is an evolutionarily conserved catabolic process and is involved in the regulation of programmed cell death during the plant immune response. However, mechanisms regulating autophagy and cell death are incompletely understood. Here, we demonstrate that plant Bax inhibitor-1 (BI-1), a highly conserved cell death regulator, interacts with ATG6, a core autophagy-related protein. Silencing of BI-1 reduced the autophagic activity induced by both N gene-mediated resistance to Tobacco mosaic virus (TMV) and methyl viologen (MV), and enhanced N gene-mediated cell death...
May 24, 2017: Autophagy
https://www.readbyqxmd.com/read/28536532/phase-partitioning-of-gm1-and-its-bodipy-labeled-analog-determine-their-different-binding-to-cholera-toxin
#7
Sami Rissanen, Michal Grzybek, Adam Orłowski, Tomasz Róg, Oana Cramariuc, Ilya Levental, Christian Eggeling, Erdinc Sezgin, Ilpo Vattulainen
Driven by interactions between lipids and proteins, biological membranes display lateral heterogeneity that manifests itself in a mosaic of liquid-ordered (Lo) or raft, and liquid-disordered (Ld) or non-raft domains with a wide range of different properties and compositions. In giant plasma membrane vesicles and giant unilamellar vesicles, specific binding of Cholera Toxin (CTxB) to GM1 glycolipids is a commonly used strategy to label raft domains or Lo membrane environments. However, these studies often use acyl-chain labeled bodipy-GM1 (bdGM1), whose headgroup accessibility and membrane order or phase partitioning may differ from those of GM1, rendering the interpretation of CTxB binding data quite problematic...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28536289/modulation-of-aneuploidy-in-leishmania-donovani-during-adaptation-to-different-in-vitro-and-in-vivo-environments-and-its-impact-on-gene-expression
#8
F Dumetz, H Imamura, M Sanders, V Seblova, J Myskova, P Pescher, M Vanaerschot, C J Meehan, B Cuypers, G De Muylder, G F Späth, G Bussotti, J R Vermeesch, M Berriman, J A Cotton, P Volf, J C Dujardin, M A Domagalska
Aneuploidy is usually deleterious in multicellular organisms but appears to be tolerated and potentially beneficial in unicellular organisms, including pathogens. Leishmania, a major protozoan parasite, is emerging as a new model for aneuploidy, since in vitro-cultivated strains are highly aneuploid, with interstrain diversity and intrastrain mosaicism. The alternation of two life stages in different environments (extracellular promastigotes and intracellular amastigotes) offers a unique opportunity to study the impact of environment on aneuploidy and gene expression...
May 23, 2017: MBio
https://www.readbyqxmd.com/read/28536000/an-analysis-of-myod-dependent-transcription-using-crispr-cas9-gene-targeting-in-xenopus-tropicalis-embryos
#9
Caitlin McQueen, Mary Elizabeth Pownall
Myogenic regulatory factors (MRFs) are known to have essential roles in both the establishment and differentiation of the skeletal muscle cell lineage. MyoD is expressed early in the Xenopus mesoderm where it is present and active several hours before the activation of muscle differentiation genes. Previous studies in cultured cells and in Xenopus laevis have identified sets of genes that require MyoD prior to differentiation of skeletal muscle. Here we report results from experiments using CRISPR/Cas9 to target the MyoD gene in the diploid frog Xenopus tropicalis, that are analysed by RNA-seq at gastrula stages...
May 20, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28535127/modelling-virus-coinfection-to-inform-management-of-maize-lethal-necrosis-in-kenya
#10
Frank Hilker, Linda Allen, Vrushali Bokil, Cheryl Briggs, Zhilan Feng, Karen A Garrett, Louis Gross, Frédéric Hamelin, Michael J Jeger, Carrie Manore, Alison Power, Margaret Redinbaugh, Megan Rúa, Nik J Cunniffe
Maize lethal necrosis (MLN) has emerged as a serious threat to food security in sub-Saharan Africa. MLN is caused by coinfection with two viruses, maize chlorotic mottle virus (MCMV) and a potyvirus, often sugarcane mosaic virus (SCMV). To better understand dynamics of MLN and to provide insight into disease management, we model the spread of the viruses causing MLN within and between growing seasons. The model allows for transmission via vectors, soil and seeds, as well as exogenous sources of infection. Following model parameterisation, we predict how management affects disease prevalence and crop performance over multiple seasons...
May 23, 2017: Phytopathology
https://www.readbyqxmd.com/read/28535039/deposition-of-gold-nanotriangles-in-large-scale-close-packed-monolayers-for-x-ray-based-temperature-calibration-and-sers-monitoring-of-plasmon-driven-catalytic-reactions
#11
Ferenc Liebig, Radwan M Sarhan, Mathias Sander, Wouter A Koopman, Roman Schuetz, Matias Bargheer, Joachim Koetz
Anisotropic plasmonic particles such as gold nanotriangles have extraordinary structural, optical and physico-chemical properties. For many applications in different fields it is essential to prepare them in a chemically and physically stable, structurally well-defined manner, e.g., as large and uniform coverage on a substrate. We present a direct method for the large scale close-packed monolayer formation of edge-to-edge ordered, ultrathin crystalline gold nanotriangles on Si-wafers or quartz glass via the transfer of these asymmetric particles to the air-liquid interface after adding ethanol-toluene mixtures without any subsequent surface functionalization...
May 23, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#12
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533817/mosaicism-for-structural-non-centromeric-autosomal-rearrangements-in-disease-defined-carriers-sex-differences-in-the-rearrangements-profile-and-maternal-age-distributions
#13
REVIEW
Natalia V Kovaleva, Philip D Cotter
BACKGROUND: Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of this kind of mosaicism, such as population rate, cytogenetic profile of Reas involved, maternal age distribution, and sex (male to female) ratio among Rea carriers. The objectives of the present study were: (i) determination of the Rea profile in clinically affected individuals, (ii) comparative analysis of the cytogenetic profile and involvement of single chromosomes to rearrangements in affected and previously reported asymptomatic carriers, (iii) analysis of the male/female ratio in carriers of various types of Rea, and, (iv) examination of parental ages distributions according to carriers' sex...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28532675/a-child-with-epidermolytic-ichthyosis-from-a-parent-with-epidermolytic-nevus-risk-evaluation-of-transmission-from-mosaic-to-germline
#14
Michihiro Kono, Yasushi Suga, Tomohiro Akashi, Yasutomo Ito, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama
No abstract text is available yet for this article.
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#15
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
May 22, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28529477/prox1-is-a-marker-for-aii-amacrine-cells-in-the-mouse-retina
#16
Luis Pérez de Sevilla Müller, Shaghauyegh S Azar, Janira de Los Santos, Nicholas C Brecha
The transcription factor Prox1 is expressed in multiple cells in the retina during eye development. This study has focused on neuronal Prox1 expression in the inner nuclear layer (INL) of the adult mouse retina. Prox1 immunostaining was evaluated in vertical retinal sections and whole mount preparations using a specific antibody directed to the C-terminus of Prox1. Strong immunostaining was observed in numerous amacrine cell bodies and in all horizontal cell bodies in the proximal and distal INL, respectively...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28526937/molecular-confirmation-of-intraspecific-tomato-solanum-lycopersicum-hybrids-and-their-evaluation-against-late-blight-and-cucumber-mosaic-virus
#17
Amjad Hameed, Muhammad Yussouf Saleem, Khalid Pervaiz Akhtar, Muhammad Shoaib, Qumer Iqbal, Muhammad Asghar
Tomato is one of the most consumed vegetables in the world. Diseases are the number one concern in the development of high-yield and disease-resistant tomato hybrids which is the foremost priority of breeders. Present study was conducted (1) to develop DNA-based markers for genetic confirmation of tomato F1 hybrids, (2) to utilize sequenced characterized amplified region (SCAR) marker linked to the Ph-3 gene for Phytophthora infestans resistance in tomato and (3) to evaluate male and female parental genotypes and their F1 hybrids against late blight (LB) and cucumber mosaic virus (CMV)...
May 19, 2017: Molecular Biotechnology
https://www.readbyqxmd.com/read/28526129/electrostatics-of-patchy-surfaces
#18
REVIEW
Ram M Adar, David Andelman, Haim Diamant
In the study of colloidal, biological and electrochemical systems, it is customary to treat surfaces, macromolecules and electrodes as homogeneously charged. This simplified approach is proven successful in most cases, but fails to describe a wide range of heterogeneously charged surfaces commonly used in experiments. For example, recent experiments have revealed a long-range attraction between overall neutral surfaces, locally charged in a mosaic-like structure of positively and negatively charged domains ("patches")...
April 7, 2017: Advances in Colloid and Interface Science
https://www.readbyqxmd.com/read/28525374/the-effect-of-rapamycin-nvp-bez235-aspirin-and-metformin-on-pi3k-akt-mtor-signaling-pathway-of-pik3ca-related-overgrowth-spectrum-pros
#19
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28524652/optical-characteristics-and-tumor-imaging-capabilities-of-near-infrared-dyes-in-free-and-nano-encapsulated-formulations-comprised-of-viral-capsids
#20
Yadir Guerrero, Sheela Singh, Turong Mai, Ravoori Murali, Leela Tanikella, Atta Zahedi, Vikas Kundra, Bahman Anvari
Near infrared (NIR) fluorescent molecules and nano-sized structures can serve as potential optical probes for image-guided removal of small tumor nodules (≈ < 1 mm diameter). While indocyanine green (ICG) remains as the only FDA-approved NIR dye, other organic dyes are under extensive development for enhanced imaging capabilities. One such dye is BrCy106-NHS where bromine is substituted for aromatic structures in cyanine dyes. Herein, we investigate the absorption and fluorescence characteristics of ICG and BrCy106-NHS, and quantitatively assess their tumor imaging capabilities in free (non-encapsulated) and a nano-encapsulated form that utilizes the capsid protein (CP) from genome-depleted plant-infecting brome mosaic virus as the encapsulating shell...
May 19, 2017: ACS Applied Materials & Interfaces
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