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Nature Genetics

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https://www.readbyqxmd.com/read/29786923/biodiversity-of-the-human-oral-mycobiome-in-health-and-disease
#1
H M H N Bandara, C P Panduwawala, L P Samaranayake
The organisms that colonize the human body over a lifetime are diverse, extensive and gargantuan. A fair proportion of the microbiota that constitutes this human microbiome live within our oral cavities mostly as harmonious associates causing only sporadic disease. An important core constituent of the microbiome is the mycobiome, representing various fungal genera. Up until recently, only a few species of fungi, mainly Candida species, were thought to constitute the human oral mycobiome. The reasons for this are manifold, although the uncultivable nature of many fungi in conventional laboratory media, and their complex genetic composition seem to be the major factors which eluded their detection over the years...
May 22, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29786902/engineered-metalloenzymes-with-non-canonical-coordination-environments
#2
Takahiro Hayashi, Donald Hilvert, Anthony P Green
Nature employs a limited number of genetically encoded, metal coordinating residues to create metalloenzymes with diverse structures and functions. Engineered components of the cellular translation machinery can now be exploited to genetically encode non-canonical ligands with user-defined electronic and structural properties. This ability to efficiently install 'chemically programmed' ligands into proteins can provide powerful chemical probes of metalloenzyme mechanisms and presents excellent opportunities to create metalloprotein catalysts with augmented properties and novel activities...
May 22, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29786899/improved-stable-indocyanine-green-icg-mediated-cancer-optotheranostics-with-naturalized-hepatitis-b-core-particles
#3
Wenjun Shan, Ronghe Chen, Qiang Zhang, Jie Zhao, Binbin Chen, Xi Zhou, Shefang Ye, Shengli Bi, Liming Nie, Lei Ren
In recent years, hepatitis B core protein virus-like particle (HBc VLP) is an impressive biomaterial, which has attracted considerable attention due to favorable properties such as structural stability, high uptake efficiency, and biocompatibility in biomedical applications. Heretofore, only a few attempts have been made to apply it in physical, chemical, and biological therapy for cancer. In this study, a tumor-targeting RGD-HBc VLP is first fabricated through genetic engineering. For image-guided cancer phototherapy, indocyanine green (ICG) is loaded into RGD-HBc VLP via a disassembly/reassembly pathway and electrostatic attraction with high efficiency...
May 22, 2018: Advanced Materials
https://www.readbyqxmd.com/read/29785766/schizophyllum-commune-an-unexploited-source-for-lignocellulose-degrading-enzymes
#4
REVIEW
Omar Eduardo Tovar-Herrera, Adriana Mayrel Martha-Paz, Yordanis Pérez-LLano, Elisabet Aranda, Juan Enrique Tacoronte-Morales, María Teresa Pedroso-Cabrera, Katiushka Arévalo-Niño, Jorge Luis Folch-Mallol, Ramón Alberto Batista-García
Lignocellulose represents the most abundant source of carbon in the Earth. Thus, fraction technology of the biomass turns up as an emerging technology for the development of biorefineries. Saccharification and fermentation processes require the formulation of enzymatic cocktails or the development of microorganisms (naturally or genetically modified) with the appropriate toolbox to produce a cost-effective fermentation technology. Therefore, the search for microorganisms capable of developing effective cellulose hydrolysis represents one of the main challenges in this era...
May 21, 2018: MicrobiologyOpen
https://www.readbyqxmd.com/read/29785663/enterobacteria-and-host-resistance-to-infection
#5
REVIEW
Eugene Kang, Alanna Crouse, Lucie Chevallier, Stéphanie M Pontier, Ashwag Alzahrani, Navoun Silué, François-Xavier Campbell-Valois, Xavier Montagutelli, Samantha Gruenheid, Danielle Malo
Enterobacteriaceae are a large family of Gram-negative, non-spore-forming bacteria. Although many species exist as part of the natural flora of animals including humans, some members are associated with both intestinal and extraintestinal diseases. In this review, we focus on members of this family that have important roles in human disease: Salmonella, Escherichia, Shigella, and Yersinia, providing a brief overview of the disease caused by these bacteria, highlighting the contribution of animal models to our understanding of their pathogenesis and of host genetic determinants involved in susceptibility or resistance to infection...
May 21, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29784797/mutations-in-a-subfamily-of-abscisic-acid-receptor-genes-promote-rice-growth-and-productivity
#6
Chunbo Miao, Lihong Xiao, Kai Hua, Changsong Zou, Yang Zhao, Ray A Bressan, Jian-Kang Zhu
Abscisic acid (ABA) is a key phytohormone that controls plant growth and stress responses. It is sensed by the pyrabactin resistance 1 (PYR1)/PYR1-like (PYL)/regulatory components of the ABA receptor (RCAR) family of proteins. Here, we utilized CRISPR/Cas9 technology to edit group I ( PYL1 - PYL6 and PYL12 ) and group II ( PYL7 - PYL11 and PYL13 ) PYL genes in rice. Characterization of the combinatorial mutants suggested that genes in group I have more important roles in stomatal movement, seed dormancy, and growth regulation than those in group II...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29784583/medical-techniques-of-fertility-preservation-in-the-male-and-female
#7
C Vinolas, J Raad, C Sonigo, C Sifer, N Sermondade, M Grynberg
Therapeutic advances in many medical fields have led to the need to consider patient quality of life after curative medico-surgical treatments for malignancy. Thus, it has become a major issue for young patients to preserve the ability to become "genetic" parents, with their own gametes. While the preservation of male fertility has been an established technique for more than 30 years, it is only in the last decade that progress in cryopreservation techniques has allowed surgeons to offer successful oocyte and ovarian tissue cryobanking...
May 18, 2018: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/29784572/the-burden-of-familial-chylomicronemia-syndrome-results-from-the-global-in-focus-study
#8
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784537/artificial-intelligence-a-joint-narrative-on-potential-use-in-pediatric-stem-and-immune-cell-therapies-and-regenerative-medicine
#9
REVIEW
Irena Sniecinski, Jerard Seghatchian
Artificial Intelligence (AI) reflects the intelligence exhibited by machines and software. It is a highly desirable academic field of many current fields of studies. Leading AI researchers describe the field as "the study and design of intelligent agents". McCarthy invented this term in 1955 and defined it as "the science and engineering of making intelligent machines". The central goals of AI research are reasoning, knowledge, planning, learning, natural language processing (communication), perception and the ability to move and manipulate objects...
May 9, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29783761/the-guppy-sex-chromosome-system-and-the-sexually-antagonistic-polymorphism-hypothesis-for-y-chromosome-recombination-suppression
#10
REVIEW
Deborah Charlesworth
Sex chromosomes regularly evolve suppressed recombination, distinguishing them from other chromosomes, and the reason for this has been debated for many years. It is now clear that non-recombining sex-linked regions have arisen in different ways in different organisms. A major hypothesis is that a sex-determining gene arises on a chromosome and that sexually antagonistic (SA) selection (sometimes called intra-locus sexual conflict) acting at a linked gene has led to the evolution of recombination suppression in the region, to reduce the frequency of low fitness recombinant genotypes produced...
May 19, 2018: Genes
https://www.readbyqxmd.com/read/29783751/targeting-protein-quality-control-mechanisms-by-natural-products-to-promote-healthy-ageing
#11
REVIEW
Sophia Wedel, Maria Manola, Maria Cavinato, Ioannis P Trougakos, Pidder Jansen-Dürr
Organismal ageing is associated with increased chance of morbidity or mortality and it is driven by diverse molecular pathways that are affected by both environmental and genetic factors. The progression of ageing correlates with the gradual accumulation of stressors and damaged biomolecules due to the time-dependent decline of stress resistance and functional capacity, which eventually compromise cellular homeodynamics. As protein machines carry out the majority of cellular functions, proteome quality control is critical for cellular functionality and is carried out through the curating activity of the proteostasis network (PN)...
May 19, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29783242/specific-nature-of-changes-in-main-immunohistochemical-parameters-of-neoangiogenesis-in-patients-with-psoriasis
#12
Iryna Ya Voznyak, Оrysya О Syzon, Marianna O Dashko
OBJECTIVE: Introduction: Psoriasis is a skin disease that is accompanied by systemic inflammation and affects about 1 to 5% of the population worldwide. Taking into consideration the data of scientific investigation, at present psoriasis is explained as genetically determined chronic multi factor polysystemic dermatosis. The aim of our research was to determine morphological peculiarities of skin lesions in patients with common psoriasis, investigation of the levels of expression of immunohistochemical markers of vascularization, depending on psoriasis form and severity of the course of pathological processes...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29782831/mapping-cellular-polarity-networks-using-mass-spectrometry-based-strategies
#13
REVIEW
Avais M Daulat, Tania M Puvirajesinghe, Luc Camoin, Jean-Paul Borg
Cell polarity is a vital biological process involved in the building, maintenance and normal functioning of tissues in invertebrates and vertebrates. Unsurprisingly, molecular defects affecting polarity organization and functions have a strong impact on tissue homeostasis, embryonic development and adult life, and may directly or indirectly lead to diseases. Genetic studies have demonstrated the causative effect of several polarity genes in diseases, however much remains to be clarified before a comprehensive view of the molecular organization and regulation of the protein networks associated with polarity proteins is obtained...
May 18, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#14
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29781673/rabies-of-canid-biotype-in-wild-dog-lycaon-pictus-and-spotted-hyaena-crocuta-crocuta-in-madikwe-game-reserve-south-africa-in-2014-2015-diagnosis-possible-origins-and-implications-for-control
#15
Claude T Sabeta, Drienie Janse van Rensburg, Baby Phahladira, Debra Mohale, Robert F Harrison-White, Carlien Esterhuyzen, June H Williams
Both domestic and wild carnivore species are commonly diagnosed with rabies virus (RABV) infection in South Africa. Although the majority of confirmed rabies cases in wild carnivore species are reported from the yellow mongoose (Cynictis penicillata), the rest are from other wild carnivores including the highly endangered wild dog (Lycaon pictus). Lyssavirus infection was confirmed in two wild dogs and a spotted hyaena (Crocuta crocuta) in the Madikwe Game Reserve, North West province in South Africa, in 2014 and 2015, using a direct fluorescent antibody test and immunohistochemistry...
April 26, 2018: Journal of the South African Veterinary Association
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#16
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29780584/opening-the-black-box-of-spring-water-microbiology-from-alpine-karst-aquifers-to-support-proactive-drinking-water-resource-management
#17
REVIEW
Domenico Savio, Philipp Stadler, Georg H Reischer, Alexander K T Kirschner, Katalin Demeter, Rita Linke, Alfred P Blaschke, Regina Sommer, Ulrich Szewzyk, Inés C Wilhartitz, Robert L Mach, Hermann Stadler, Andreas H Farnleitner
Over the past 15 years, pioneering interdisciplinary research has been performed on the microbiology of hydrogeologically well-defined alpine karst springs located in the Northern Calcareous Alps (NCA) of Austria. This article gives an overview on these activities and links them to other relevant research. Results from the NCA springs and comparable sites revealed that spring water harbors abundant natural microbial communities even in aquifers with high water residence times and the absence of immediate surface influence...
May 2018: WIREs. Water
https://www.readbyqxmd.com/read/29779933/-hereditary-optic-neuropathies-in-pediatric-ophthalmology
#18
C Orssaud, M P Robert, D Bremond Gignac
INTRODUCTION: Hereditary optic neuropathies (HON) often begin in adulthood. However, some of them can have an early onset. These may have specific clinical features and natural histories. PATIENTS AND METHODS: Retrospective study of HON patients with onset before the age of 14 years seen in a referral center. In addition to the age of onset, we evaluated the genetic etiology, visual acuity at 15 years, last best corrected visual acuity, optic disc appearance, visual field and extra-ophthalmological manifestations...
May 17, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29779875/three-dimensional-representation-of-motor-space-in-the-mouse-superior-colliculus
#19
Jonathan J Wilson, Nicolas Alexandre, Caterina Trentin, Marco Tripodi
From the act of exploring an environment to that of grasping a cup of tea, animals must put in register their motor acts with their surrounding space. In the motor domain, this is likely to be defined by a register of three-dimensional (3D) displacement vectors, whose recruitment allows motion in the direction of a target. One such spatially targeted action is seen in the head reorientation behavior of mice, yet the neural mechanisms underlying these 3D behaviors remain unknown. Here, by developing a head-mounted inertial sensor for studying 3D head rotations and combining it with electrophysiological recordings, we show that neurons in the mouse superior colliculus are either individually or conjunctively tuned to the three Eulerian components of head rotation...
May 15, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29779657/collection-culturing-and-genome-analyses-of-tropical-marine-filamentous-benthic-cyanobacteria
#20
Nathan A Moss, Tiago Leao, Evgenia Glukhov, Lena Gerwick, William H Gerwick
Decreasing sequencing costs has sparked widespread investigation of the use of microbial genomics to accelerate the discovery and development of natural products for therapeutic uses. Tropical marine filamentous cyanobacteria have historically produced many structurally novel natural products, and therefore present an excellent opportunity for the systematic discovery of new metabolites via the information derived from genomics and molecular genetics. Adequate knowledge transfer and institutional know-how are important to maintain the capability for studying filamentous cyanobacteria due to their unusual microbial morphology and characteristics...
2018: Methods in Enzymology
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