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https://www.readbyqxmd.com/read/27914059/evolution-inspired-computational-design-of-symmetric-proteins
#1
Arnout R D Voet, David Simoncini, Jeremy R H Tame, Kam Y J Zhang
Monomeric proteins with a number of identical repeats creating symmetrical structures are potentially very valuable building blocks with a variety of bionanotechnological applications. As such proteins do not occur naturally, the emerging field of computational protein design serves as an excellent tool to create them from nonsymmetrical templates. Existing pseudo-symmetrical proteins are believed to have evolved from oligomeric precursors by duplication and fusion of identical repeats. Here we describe a computational workflow to reverse-engineer this evolutionary process in order to create stable proteins consisting of identical sequence repeats...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#2
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913274/two-grass-carp-ctenopharyngodon-idella-insulin-like-growth-factor-binding-protein-5-genes-exhibit-different-yet-conserved-functions-in-development-and-growth
#3
Guo-Dong Zheng, Chun-Xue Zhou, Si-Tong Lin, Jie Chen, Xia-Yun Jiang, Shu-Ming Zou
Insulin-like growth factor binding-protein 5 (igfbp5), the most conserved member of the IGFBP family in vertebrates, plays a critical role in controlling cell survival, growth, differentiation, and apoptosis. Here, we characterized the expression patterns of igfbp5a and igfbp5b in grass carp (Ctenopharyngodon idella), which are retained in many fish species, likely from the teleost-specific whole-genome duplication. Both igfbp5a and igfbp5b encode 268- and 263-aa peptides, respectively, which share a sequence identity of 71%...
November 29, 2016: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27912972/fate-of-males-with-urethral-y-duplication-40-year-long-follow-up-in-8-patients
#4
Mario Lima, Francesca Destro, Neil Di Salvo, Tommaso Gargano, Giovanni Ruggeri
PURPOSE: The spectrum of male urethral duplication is heterogeneous and it includes the Y-duplication. The malformation is rare and there is only a few case series reported in the literature. The management of Y-forms remains challenging for the surgeon and the long-term follow-up is still scarcely investigated. We report our 40-year experience in the management of patients with Y-duplication. MATERIALS AND METHODS: We conducted a restrospective analysis collecting information of patients with urethral Y-duplication treated at our department from April 1975 to April 2015...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27911821/myth4-ferm-myosins-have-an-ancient-and-conserved-role-in-filopod-formation
#5
Karl J Petersen, Holly V Goodson, Ashley L Arthur, G W Gant Luxton, Anne Houdusse, Margaret A Titus
The formation of filopodia in Metazoa and Amoebozoa requires the activity of myosin 10 (Myo10) in mammalian cells and of Dictyostelium unconventional myosin 7 (DdMyo7) in the social amoeba Dictyostelium However, the exact roles of these MyTH4-FERM myosins (myosin tail homology 4-band 4.1, ezrin, radixin, moesin; MF) in the initiation and elongation of filopodia are not well defined and may reflect conserved functions among phylogenetically diverse MF myosins. Phylogenetic analysis of MF myosin domains suggests that a single ancestral MF myosin existed with a structure similar to DdMyo7, which has two MF domains, and that subsequent duplications in the metazoan lineage produced its functional homolog Myo10...
November 23, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911792/transcriptomics-and-neuroanatomy-of-the-clonal-raider-ant-implicate-an-expanded-clade-of-odorant-receptors-in-chemical-communication
#6
Sean K McKenzie, Ingrid Fetter-Pruneda, Vanessa Ruta, Daniel J C Kronauer
A major aim of sociogenomic research is to uncover common principles in the molecular evolution of sociality. This endeavor has been hampered by the small number of specific genes currently known to function in social behavior. Here we provide several lines of evidence suggesting that ants have evolved a large and novel clade of odorant receptor (OR) genes to perceive hydrocarbon-based pheromones, arguably the most important signals in ant communication. This genomic expansion is also mirrored in the ant brain via a corresponding expansion of a specific cluster of glomeruli in the antennal lobe...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911707/the-plk4-stil-sas-6-module-at-the-core-of-centriole-duplication
#7
REVIEW
Christian Arquint, Erich A Nigg
Centrioles are microtubule-based core components of centrosomes and cilia. They are duplicated exactly once during S-phase progression. Central to formation of each new (daughter) centriole is the formation of a nine-fold symmetrical cartwheel structure onto which microtubule triplets are deposited. In recent years, a module comprising the protein kinase polo-like kinase 4 (PLK4) and the two proteins STIL and SAS-6 have been shown to stay at the core of centriole duplication. Depletion of any one of these three proteins blocks centriole duplication and, conversely, overexpression causes centriole amplification...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27910970/exploration-of-hydrogen-bond-networks-and-potential-energy-surfaces-of-methanol-clusters-using-a-two-stage-clustering-algorithm
#8
Po-Jen Hsu, Kun-Lin Ho, Sheng-Hsien Lin, Jer-Lai Kuo
The potential energy surface (PES), structures and thermal properties of methanol clusters (MeOH)n with n = 8-15 were explored by replica-exchange molecular dynamics (REMD) simulations with an empirical model and refined using density functional theory (DFT) methods. For a given size, local minima structures were sampled from REMD trajectories and archived by a newly developed molecular database via a two-stage clustering algorithm (TSCA). Our TSCA utilizes both the topology of O-HO hydrogen bonding networks and the similarity of the shapes to filter out duplicates...
December 2, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27910910/genome-wide-characterisation-and-expression-profile-of-the-grapevine-atl-ubiquitin-ligase-family-reveal-biotic-and-abiotic-stress-responsive-and-development-related-members
#9
Pietro Ariani, Alice Regaiolo, Arianna Lovato, Alejandro Giorgetti, Andrea Porceddu, Salvatore Camiolo, Darren Wong, Simone Castellarin, Elodie Vandelle, Annalisa Polverari
The Arabidopsis Tóxicos en Levadura (ATL) protein family is a class of E3 ubiquitin ligases with a characteristic RING-H2 Zn-finger structure that mediates diverse physiological processes and stress responses in plants. We carried out a genome-wide survey of grapevine (Vitis vinifera L.) ATL genes and retrieved 96 sequences containing the canonical ATL RING-H2 domain. We analysed their genomic organisation, gene structure and evolution, protein domains and phylogenetic relationships. Clustering revealed several clades, as already reported in Arabidopsis thaliana and rice (Oryza sativa), with an expanded subgroup of grapevine-specific genes...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910763/il10-a-tale-of-an-evolutionarily-conserved-cytokine-across-vertebrates
#10
M Carla Piazzon, George Lutfalla, Maria Forlenza
IL10 was discovered in 1989, and since then it has been the subject of intense investigation, which has revealed its potent anti-inflammatory and regulatory activities in most immune processes during infection and disease. In 2003, the first non-mammalian IL10 sequence was identified in teleost fish, followed in 2004 by the chicken IL10 sequence. In this review, we summarize the work performed in non-mammalian vertebrates in which the IL10, IL10 receptors (IL10Rs), and their signaling components have been identified...
2016: Critical Reviews in Immunology
https://www.readbyqxmd.com/read/27910582/experimentally-determining-the-relative-efficiency-of-spherically-bent-germanium-and-quartz-crystals
#11
G V Brown, P Beiersdorfer, N Hell, E Magee
We have used the EBIT-I electron beam ion trap at the Lawrence Livermore National Laboratory and a duplicate Orion High Resolution X-ray Spectrometer (OHREX) to measure the relative efficiency of a spherically bent quartz (101̄1) crystal (2d = 6.687 Å) and a spherically bent germanium (111) crystal (2d = 6.532 Å). L-shell X-ray photons from highly charged molybdenum ions generated in EBIT-I were simultaneously focussed and Bragg reflected by each crystal, both housed in a single spectrometer, onto a single CCD X-ray detector...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27909860/tibial-hemimelia-new-classification-and-reconstructive-options
#12
REVIEW
Dror Paley
Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme...
December 1, 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27909837/simultaneous-intracochlear-pressure-measurements-from-two-cochlear-locations-propagation-of-distortion-products-in-gerbil
#13
Wei Dong
Sound energy propagates in the cochlea through a forward-traveling or slow wave supported by the cochlear partition and fluid inertia. Additionally, cochlear models support traveling wave propagation in the reverse direction as the expected mechanism for conveying otoacoustic emissions out of the cochlea. Recently, however, this hypothesis has been questioned, casting doubt on the process by which otoacoustic emissions travel back out through the cochlea. The proposed alternative reverse travel path for emissions is directly through the fluids of the cochlea as a compression pressure in the form of a fast wave...
December 1, 2016: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/27909564/seasons-in-the-sun-the-impact-on-ivf-results-one-month-later
#14
F Vandekerckhove, H Van der Veken, K Tilleman, I De Croo, E Van den Abbeel, J Gerris, P De Sutter
BACKGROUND: Several retrospective studies have evaluated seasonal variations in the outcome of IVF treatment. Some also included weather conditions, mostly temperature and hours of daylight. The results were conflicting. METHODS: In a retrospective study we analysed all fresh cycles (N = 9865) that were started between January 1, 2007 and December 31, 2012. Because some patients were included more than once, correction for duplicate patients was performed. We focused on individual variables provided as monthly results by our national meteorological institute...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27909301/genetic-architecture-and-evolution-of-the-s-locus-supergene-in-primula-vulgaris
#15
Jinhong Li, Jonathan M Cocker, Jonathan Wright, Margaret A Webster, Mark McMullan, Sarah Dyer, David Swarbreck, Mario Caccamo, Cock van Oosterhout, Philip M Gilmartin
Darwin's studies on heterostyly in Primula described two floral morphs, pin and thrum, with reciprocal anther and stigma heights that promote insect-mediated cross-pollination. This key innovation evolved independently in several angiosperm families. Subsequent studies on heterostyly in Primula contributed to the foundation of modern genetic theory and the neo-Darwinian synthesis. The established genetic model for Primula heterostyly involves a diallelic S locus comprising several genes, with rare recombination events that result in self-fertile homostyle flowers with anthers and stigma at the same height...
December 2, 2016: Nature Plants
https://www.readbyqxmd.com/read/27908881/pre-clinical-studies-of-gilteritinib-a-next-generation-flt3-inhibitor
#16
Lauren Y Lee, Daniela Hernandez, Trivikram Rajkhowa, Samuel C Smith, Jayant Ranganathan Raman, Bao Nguyen, Donald Small, Mark Levis
Activating mutations in the receptor tyrosine kinase FLT3 comprise approximately one-third of genetic lesions in acute myeloid leukemia (AML) and are associated with a poor prognosis. Internal tandem duplication (FLT3-ITD) mutations in particular are associated with a high relapse rate. Although FLT3 tyrosine kinase inhibitors (TKIs) appear to improve clinical outcomes for patients with FLT3-ITD AML, the development of early-generation FLT3 TKIs has been impeded by several obstacles such as low potency and selectivity, myelosuppression, and the emergence of resistance-conferring point mutations...
December 1, 2016: Blood
https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#17
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27907894/interventions-for-orthodontically-induced-white-spot-lesions-a-systematic-review-and-meta-analysis
#18
REVIEW
Damian Höchli, Monika Hersberger-Zurfluh, Spyridon N Papageorgiou, Theodore Eliades
BACKGROUND: Although orthodontic white spot lesions (WSLs) are one of the most often and most evident adverse effects of comprehensive fixed appliance treatment, the efficacy of interventions for WSLs has not yet been adequately assessed in an evidence-based manner. OBJECTIVE: Aim of this systematic review was to assess the therapeutic and adverse effects of interventions to treat post-orthodontic WSLs from randomized trials in human patients. SEARCH METHODS: An unrestricted electronic search of eight databases from inception to May 2016...
October 17, 2016: European Journal of Orthodontics
https://www.readbyqxmd.com/read/27906638/gene-duplications-and-losses-among-vertebrate-deoxyribonucleoside-kinases-of-the-non-tk1-family
#19
Zeeshan Mutahir, Louise Slot Christiansen, Anders R Clausen, Martin W Berchtold, Zoran Gojkovic, Birgitte Munch-Petersen, Wolfgang Knecht, Jure Piškur
Deoxyribonucleoside kinases (dNKs) salvage deoxyribonucleosides (dNs) and catalyze the rate limiting step of this salvage pathway by converting dNs into corresponding monophosphate forms. These enzymes serve as an excellent model to study duplicated genes and their evolutionary history. So far, among vertebrates only four mammalian dNKs have been studied for their substrate specificity and kinetic properties. However, some vertebrates, such as fish, frogs, and birds, apparently possess a duplicated homolog of deoxycytidine kinase (dCK)...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27906430/recurrent-acute-pancreatitis-in-bowel-malrotation
#20
G Alessandri, A Amodio, L Landoni, N De' Liguori Carino, C Bassi
OBJECTIVE: Recurrent acute pancreatitis is an uncommon diagnosis in teenagers. Excluded alcohol and biliary stones, more prevalent aetiologies in these group of patients are genetic pancreatitis, pancreatic duct system abnormalities, neoplasia, traumas and congenital abnormalities of the duodenum such as duodenal duplication or diverticulum. Two reported cases of recurrent pancreatitis associated to midgut malrotation were described in English literature. Bowel malrotation is a difficult diagnosis in a teenager or a young adult and a common delay is documented...
November 2016: European Review for Medical and Pharmacological Sciences
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