keyword
MENU ▼
Read by QxMD icon Read
search

Molecular genetics

keyword
https://www.readbyqxmd.com/read/28227132/effect-specific-analysis-of-pathogenic-snvs-in-human-interactome-leveraging-edge-based-network-robustness
#1
Hongzhu Cui, Dmitry Korkin, Hongzhu Cui, Dmitry Korkin, Dmitry Korkin, Hongzhu Cui
Study of genetic variants in the context of molecular networks has recently gained much attention. However, many of these studies suffer from the lack of functional information about the network rewiring effect of genetic variants. After large-scale homology modeling, plus extracting native structure from PDB database, we performed structure-based prediction about the rewiring effect using our SNP-IN tool, and it covers significantly more variants than experimental characterization. The analysis result confirms the widespread perturbations in human interactome and reveals the network rewiring behavior based on edge-based network robustness concept...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226233/chemical-genetic-dissection-of-membrane-trafficking
#2
Lorena Norambuena, Ricardo Tejos
The plant endomembrane system is an extensively connected functional unit for exchanging material between compartments. Secretory and endocytic pathways allow dynamic trafficking of proteins, lipids, and other molecules, regulating a myriad of biological processes. Chemical genetics-the use of compounds to perturb biological processes in a fast, tunable, and transient manner-provides elegant tools for investigating this system. Here, we review how chemical genetics has helped to elucidate different aspects of membrane trafficking...
February 13, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28226230/genomics-physiology-and-molecular-breeding-approaches-for-improving-salt-tolerance
#3
Abdelbagi M Ismail, Tomoaki Horie
Salt stress reduces land and water productivity and contributes to poverty and food insecurity. Increased salinization caused by human practices and climate change is progressively reducing agriculture productivity despite escalating calls for more food. Plant responses to salt stress are fairly well understood, involving numerous critical processes that are each controlled by multiple genes. Knowledge of the critical mechanisms controlling salt uptake and exclusion from functioning tissues, signaling of salt stress, and the arsenal of protective metabolites is advancing...
February 22, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28226229/a-perspective-on-the-role-of-computational-models-in-immunology
#4
Arup K Chakraborty
This is an exciting time for immunology because the future promises to be replete with exciting new discoveries that can be translated to improve health and treat disease in novel ways. Immunologists are attempting to answer increasingly complex questions concerning phenomena that range from the genetic, molecular, and cellular scales to that of organs, whole animals or humans, and populations of humans and pathogens. An important goal is to understand how the many different components involved interact with each other within and across these scales for immune responses to emerge, and how aberrant regulation of these processes causes disease...
February 6, 2017: Annual Review of Immunology
https://www.readbyqxmd.com/read/28225863/radiation-exposure-and-thyroid-cancer-a-review
#5
Maria Laura Iglesias, Angelica Schmidt, Abir Al Ghuzlan, Ludovic Lacroix, Florent de Vathaire, Sylvie Chevillard, Martin Schlumberger
The association between radiation exposure and the occurrence of thyroid cancer has been well documented, and the two main risk factors for the development of a thyroid cancer are the radiation dose delivered to the thyroid gland and the age at exposure. The risk increases after exposure to a mean dose of more than 0.05-0.1 Gy (50-100mGy). The risk is more important during childhood and decreases with increased age at exposure, being low in adults. After exposure, the minimum latency period before the appearance of thyroid cancers is 5 to 10 years...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225540/antituberculosis-drug-resistance-in-pulmonary-isolates-of-mycobacterium-tuberculosis-cuba-2012-2014
#6
Dihadenys Lemus, Miguel Echemendía, Raúl Díaz, María J Llanes, Lourdes Suárez, Antonio Marrero
INTRODUCTION Systematic surveillance of antituberculosis drug resistance allows identification of multidrug-resistant and extensively drug-resistant isolates of Mycobacterium tuberculosis. Surveillance studies of antituberculosis drug resistance systematically conducted in Cuba for over 15 years have revealed low circulation of multidrug-resistant tuberculosis, under 1% in new cases. OBJECTIVE Characterize antituberculosis drug resistance in isolates of M. tuberculosis recovered from patients with pulmonary tuberculosis in Cuba in 2012-2014...
January 2017: MEDICC Review
https://www.readbyqxmd.com/read/28225303/initial-diagnostic-workup-of-acute-leukemia-guideline-from-the-college-of-american-pathologists-and-the-american-society-of-hematology
#7
Daniel A Arber, Michael J Borowitz, Melissa Cessna, Joan Etzell, Kathryn Foucar, Robert P Hasserjian, J Douglas Rizzo, Karl Theil, Sa A Wang, Anthony T Smith, R Bryan Rumble, Nicole E Thomas, James W Vardiman
CONTEXT: -A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. OBJECTIVE: -To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage...
February 22, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28225144/molecular-and-genetic-basis-for-early-stage-structural-diversifications-in-hapalindole-type-alkaloid-biogenesis
#8
Qin Zhu, Xinyu Liu
Heterologous expressions and purifications of all WelU proteins from the welwitindolinone pathways in Hapalosiphon welwitschii UTEX B1830 and IC-52-3 led to the discovery that WelU1 and WelU3 selectively assemble 12-epi-fischerindole U (2) and 12-epi-hapalindole C (1), respectively, from 3-geranyl 3-isocyanovinyl indolenine (4) via an enzymatic cascade featuring the Cope rearrangement, stereoselective aza-Prins cyclization and regioselective carbocation deposition. In combination with the in vitro characterization of WelU1/WelU3-homolog AmbU4 for the biogenesis of 12-epi-hapalindole U, this study provide a unified view on the origin of the early stage structural diversifications in hapalindole-type alkaloid biosynthesis, post common intermediate 4...
February 22, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28225092/controlled-propulsion-and-separation-of-helical-particles-at-the-nanoscale
#9
Maria Michiko T Alcanzare, Vaibhav Thakore, Santtu T T Ollila, Mikko Karttunen, Tapio Ala-Nissila
Controlling the motion of nano and microscale objects in a fluid environment is a key factor in designing optimized tiny machines that perform mechanical tasks such as transport of drugs or genetic material in cells, fluid mixing to accelerate chemical reactions, and cargo transport in microfluidic chips. Directed motion is made possible by the coupled translational and rotational motion of asymmetric particles. A current challenge in achieving directed and controlled motion at the nanoscale lies in overcoming random Brownian motion due to thermal fluctuations in the fluid...
February 22, 2017: Soft Matter
https://www.readbyqxmd.com/read/28224997/clonal-reversal-of-ageing-associated-stem-cell-lineage-bias-via-a-pluripotent-intermediate
#10
Martin Wahlestedt, Eva Erlandsson, Trine Kristiansen, Rong Lu, Cord Brakebusch, Irving L Weissman, Joan Yuan, Javier Martin-Gonzalez, David Bryder
Ageing associates with significant alterations in somatic/adult stem cells and therapies to counteract these might have profound benefits for health. In the blood, haematopoietic stem cell (HSC) ageing is linked to several functional shortcomings. However, besides the recent realization that individual HSCs might be preset differentially already from young age, HSCs might also age asynchronously. Evaluating the prospects for HSC rejuvenation therefore ultimately requires approaching those HSCs that are functionally affected by age...
February 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/28224995/genetics-of-eosinophilic-esophagitis
#11
REVIEW
L C Kottyan, M E Rothenberg
Eosinophilic esophagitis (EoE) is a chronic, allergic disease associated with marked mucosal eosinophil accumulation. EoE disease risk is multifactorial and includes environmental and genetic factors. This review will focus on the contribution of genetic variation to EoE risk, as well as the experimental tools and statistical methodology used to identify EoE risk loci. Specific disease-risk loci that are shared between EoE and other allergic diseases (TSLP, LRRC32) or unique to EoE (CAPN14), as well as Mendellian Disorders associated with EoE, will be reviewed in the context of the insight that they provide into the molecular pathoetiology of EoE...
February 22, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28224788/coarse-grained-molecular-modeling-of-solution-structure-ensemble-of-dengue-virus-non-structural-protein-5-with-small-angle-x-ray-scattering-intensity
#12
Guanhua Zhu, Wuan Geok Saw, Anjaiah Nalaparaju, Gerhard Grüber, Lanyuan Lu
An ensemble modeling scheme incorporating coarse-grained simulations with experimental small-angle X-ray scattering (SAXS) data is applied to the dengue virus 2 (DENV2) non-structural protein 5 (NS5). NS5 serves a key role in viral replication through its two domains that are connected by a ten-residue polypeptide segment. A set of representative structures are generated from a simulated structure pool using SAXS data fitting by the non-negativity least squares (NNLS) or the standard Ensemble Optimization Method (EOM) based on a genetic algorithm (GA)...
February 22, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28224727/molecular-identification-and-distribution-of-non-tuberculous-mycobacteria-isolated-from-clinical-specimens-by-pcr-sequencing-method-in-west-of-iran
#13
Mahsa Dastranj, Abbas Farahani, Abdolrazagh Hashemi Shahraki, Sara Atashi, Parviz Mohajeri
BACKGROUND AND AIMS: Infections by Non-tuberculous Mycobacteria (NTM) has rapidly increased in recent years, due to high infection rates related to the populations at risk like immunocompromised individuals, patients predisposed by prior pulmonary. The aim of this study was to investigate the presence of NTM in clinical samples and genetic diversity using 16S rRNA and rpoB sequence analysis. METHODS: A cross-sectional study was conducted on 45 diverse isolates collected from sputum in two years 2014-2015 using standard decontamination procedure...
February 22, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28224663/loss-of-mlh1-sensitizes-colon-cancer-cells-to-dna-pkcs-inhibitor-ku60648
#14
Inga Hinrichsen, Anne Ackermann, Tonja Düding, Annika Graband, Natalie Filmann, Guido Plotz, Stefan Zeuzem, Angela Brieger
Germline mutations of MLH1 are responsible for tumor generation in nearly 50% of patients with Lynch Syndrome, and around 15% of sporadic colorectal cancers show MLH1-deficiency due to promotor hypermethylation. Although these tumors are of lower aggressiveness the benefit for these patients from standard chemotherapy is still under discussion. Recently, it was shown that the sensitivity to the DNA-PKcs inhibitor KU60648 is linked to loss of the MMR protein MSH3. However, loss of MSH3 is rather secondary, as a consequence of MMR-deficiency, and frequently detectable in MLH1-deficient tumors...
February 22, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28224467/appropriate-use-of-genetic-testing-in-congenital-heart-disease-patients
#15
REVIEW
Seiji Ito, Kimberly A Chapman, Monisha Kisling, Anitha S John
PURPOSE OF REVIEW: Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD. RECENT FINDINGS: Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28224003/darwinism-for-the-genomic-age-connecting-mutation-to-diversification
#16
Xia Hua, Lindell Bromham
A growing body of evidence suggests that rates of diversification of biological lineages are correlated with differences in genome-wide mutation rate. Given that most research into differential patterns of diversification rate have focused on species traits or ecological parameters, a connection to the biochemical processes of genome change is an unexpected observation. While the empirical evidence for a significant association between mutation rate and diversification rate is mounting, there has been less effort in explaining the factors that mediate this connection between genetic change and species richness...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28223667/-molecular-diagnosis-and-treatment-of-hboc-syndrome
#17
Yoshio Miki
Hereditary breast and ovarian cancer(HBOC)is an inherited cancer caused by mutations of the BRCA1 or BRCA2 genes. BRCA genetic testing is used for HBOC diagnosis and continues to progress such as the annotation of VUS. In HBOC clinical practice, surveillance methods have been established through collaboration between genetic medicine and cancer medicine, and treatment, including options based on genetic diagnosis, has advanced significantly. Furthermore, the analysis of BRCA1 and BRCA2 function has progressed, and a novel therapeutic method based on synthetic lethality, such as a PARP inhibitor use, has been developed...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28223317/stabilized1-modulates-pre-mrna-splicing-for-thermotolerance
#18
Geundon Kim, Young-Hee Cho, Byeong-Ha Lee, Sang-Dong Yoo
High temperature stress often leads to differential RNA splicing, thus accumulating different types and/or amounts of mature mRNAs in eukaryotic cells. However, regulatory mechanisms underlying plant pre-mRNA splicing in the environmental stress conditions remain elusive. Herein, we describe that a U5-snRNP-interacting protein homolog STABILIZED1 (STA1) has pre-mRNA splicing activity for heat-inducible transcripts including HEAT STRESS TRANSCRIPTION FACTORS and various HEAT SHOCK PROTEINS for the establishment of heat stress tolerance in Arabidopsis thaliana...
February 21, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28223274/long-term-responders-on-olaparib-maintenance-in-high-grade-serous-ovarian-cancer-clinical-and-molecular-characterization
#19
Stephanie Lheureux, Zhongwu Lai, Brian A Dougherty, Sarah Runswick, Darren Hodgson, Kirsten M Timms, Jerry S Lanchbury, Stanley B Kaye, Charlie Gourley, David D L Bowtell, Elise C Kohn, Clare L Scott, Ursula A Matulonis, Tony Panzarella, Katherine Karakasis, Julia V Burnier, Blake Gilks, Mark J O'Connor, Jane D Robertson, Jonathan Ledermann, J Carl Barrett, Tony W Ho, Amit M Oza
PURPOSE: Maintenance therapy with olaparib has improved progression-free survival in women with high-grade serous ovarian cancer (HGSOC), particularly those harboring BRCA1/2 mutations. The objective of this study was to characterize long-term (LT) versus short-term (ST) responders to olaparib. EXPERIMENTAL DESIGN: A comparative molecular analysis of Study 19 (NCT00753545), a randomized Phase II trial assessing olaparib maintenance after response to platinum-based chemotherapy in HGSOC, was conducted...
February 21, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28223208/characterizing-the-poagome-a-bioinformatics-driven-approach-to-primary-open-angle-glaucoma
#20
REVIEW
Ian D Danford, Lana D Verkuil, Daniel J Choi, David W Collins, Harini V Gudiseva, Katherine E Uyhazi, Marisa K Lau, Levi N Kanu, Gregory R Grant, Venkata R M Chavali, Joan M O'Brien
Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically complex neurodegenerative disorder. This study addressed the expanding collection of genes associated with POAG, referred to as the "POAGome." We used bioinformatics tools to perform an extensive, systematic literature search and compiled 522 genes with confirmed associations with POAG and its related phenotypes (normal tension glaucoma, ocular hypertension, juvenile open-angle glaucoma, and primary congenital glaucoma)...
February 18, 2017: Progress in Retinal and Eye Research
keyword
keyword
60587
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"