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https://www.readbyqxmd.com/read/28651171/the-relevance-of-inter-and-intrastrain-differences-in-mice-and-rats-and-their-implications-for-models-of-seizures-and-epilepsy
#1
REVIEW
Wolfgang Löscher, Russell J Ferland, Thomas N Ferraro
It is becoming increasingly clear that the genetic background of mice and rats, even in inbred strains, can have a profound influence on measures of seizure susceptibility and epilepsy. These differences can be capitalized upon through genetic mapping studies to reveal genes important for seizures and epilepsy. However, strain background and particularly mixed genetic backgrounds of transgenic animals need careful consideration in both the selection of strains and in the interpretation of results and conclusions...
June 23, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#2
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28639200/treatment-of-liver-cancer-by-c-ebpa-sarna
#3
Xiaoyang Zhao, Jon Voutila, Stephanos Ghobrial, Nagy A Habib, Vikash Reebye
The prognosis for hepatocellular carcinoma (HCC) remains poor and has not improved in over two decades. Most patients with advanced HCC who are not eligible for surgery have limited treatment options due to poor liver function or large, unresectable tumors. Although sorafenib is the standard-of-care treatment for these patients, only a small number respond. For the remaining, the outlook remains bleak. A better approach to target "undruggable" molecular pathways that reverse HCC is therefore urgently needed...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28637751/ifit2-is-a-restriction-factor-in-rabies-virus-pathogenicity
#4
Benjamin M Davis, Volker Fensterl, Tessa M Lawrence, Andrew W Hudacek, Ganes C Sen, Matthias J Schnell
Understanding the interactions between rabies virus (RABV) and individual host cell proteins is critical for the development of targeted therapies. Here we report that Interferon-induced protein with tetratricopeptide repeats 2 (Ifit2), an interferon-stimulated gene (ISG) with possible RNA-binding capacity, is an important restriction factor for rabies virus. When Ifit2 was depleted, RABV grew more quickly in mouse neuroblastoma in vitro This effect was replicated in vivo, where Ifit2 knockout mice displayed a dramatically more severe disease phenotype than wild-type after intranasal inoculation of RABV...
June 21, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#5
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28612151/the-genetics-journey-a-case-report-of-a-genetic-diagnosis-made-30-years-later
#6
Linford A Williams, Shane C Quinonez, Wendy R Uhlmann
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family's clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p...
June 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28589701/ighv-mutational-status-testing-in-chronic-lymphocytic-leukemia
#7
Jennifer Crombie, Matthew S Davids
As the therapeutic landscape for chronic lymphocytic leukemia (CLL) continues to expand, biological predictors of response to therapy are becoming increasingly important. One such predictive biomarker is the mutational status of the variable region of the immunoglobulin heavy chain (IGHV) gene, which is a powerful predictor of duration of response and overall survival with chemoimmunotherapy (CIT). As this test may influence choice of therapy between CIT and novel agents, it is critical that providers understand how mutational status is determined and the limitations of testing...
June 7, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28577719/personalized-therapy-in-hepatocellular-carcinoma-molecular-markers-of-prognosis-and-therapeutic-response
#8
REVIEW
Richard A Burkhart, Sean M Ronnekleiv-Kelly, Timothy M Pawlik
Hepatocellular carcinoma (HCC) represents a growing worldwide health crisis with rising incidence, limited effective therapies and persistently poor prognosis. Five-year survival remains less than 20% despite decades of research. One byproduct of research efforts is the identification of numerous biomarkers of disease. From prognosis to therapeutic response, biomarker identification parallels a deeper molecular understanding of the disease that to date has generated limited gain in clinical outcomes. As one example, the classical prognostic biomarkers of tumor Ki-67 protein expression and TP53 gene mutation have been repeatedly demonstrated to correlate with poor prognosis...
June 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28576842/toward-molecularly-driven-precision-medicine-in-lung-adenocarcinoma
#9
David Liu, Natalie I Vokes, Eliezer M Van Allen
Assessing the benefit of routine panel-based genomic sequencing of tumor tissue remains a critical need in clinical oncology. Jordan and coauthors report on 860 patients with metastatic or recurrent lung adenocarcinoma from a single institution with prospectively sequenced tumors using a targeted gene panel of >300 genes to guide therapy. Their results suggest that early prospective tumor sequencing, including non-standard-of-care predictive biomarkers combined with careful clinical annotation, can guide therapy, improve clinical outcomes, and accelerate the development of biomarkers and drugs...
June 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28570269/zinc-deficiency-primes-the-lung-for-ventilator-induced-injury
#10
Francis Boudreault, Miguel Pinilla-Vera, Joshua A Englert, Alvin T Kho, Colleen Isabelle, Antonio J Arciniegas, Diana Barragan-Bradford, Carolina Quintana, Diana Amador-Munoz, Jiazhen Guan, Kyoung Moo Choi, Lynette Sholl, Shelley Hurwitz, Daniel J Tschumperlin, Rebecca M Baron
Mechanical ventilation is necessary to support patients with acute lung injury, but also exacerbates injury through mechanical stress-activated signaling pathways. We show that stretch applied to cultured human cells, and to mouse lungs in vivo, induces robust expression of metallothionein, a potent antioxidant and cytoprotective molecule critical for cellular zinc homeostasis. Furthermore, genetic deficiency of murine metallothionein genes exacerbated lung injury caused by high tidal volume mechanical ventilation, identifying an adaptive role for these genes in limiting lung injury...
June 2, 2017: JCI Insight
https://www.readbyqxmd.com/read/28561687/new-insight-into-the-biology-risk-stratification-and-targeted-treatment-of-myelodysplastic-syndromes
#11
Mintallah Haider, Eric J Duncavage, Khalid F Afaneh, Rafael Bejar, Alan F List
In myelodysplastic syndromes (MDS), somatic mutations occur in five major categories: RNA splicing, DNA methylation, activated cell signaling, myeloid transcription factors, and chromatin modifiers. Although many MDS cases harbor more than one somatic mutation, in general, there is mutual exclusivity of mutated genes within a class. In addition to the prognostic significance of individual somatic mutations, more somatic mutations in MDS have been associated with poor prognosis. Prognostic assessment remains a critical component of the personalization of care for patient with MDS because treatment is highly risk adapted...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28553262/differing-complex-microbiota-alter-disease-severity-of-the-il-10-mouse-model-of-inflammatory-bowel-disease
#12
Marcia L Hart, Aaron C Ericsson, Craig L Franklin
It is estimated that 1.4 million people in the United States suffer from Inflammatory Bowel Disease (IBD), with an overall annual health care cost of more than $1.7 billion. Although the exact etiology of this disease remains unknown, research suggests that it is a multifactorial disease associated with aberrant gastrointestinal microbial populations (dysbiosis). The C57BL/6 and C3H/HeJBir mouse strains with targeted mutations in the IL-10 gene are commonly used models to study IBD. However, anecdotally, disease phenotype can vary in severity from lab to lab...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28542390/analysis-of-early-mesothelial-cell-responses-to-staphylococcus-epidermidis-isolated-from-patients-with-peritoneal-dialysis-associated-peritonitis
#13
Amanda L McGuire, Kieran T Mulroney, Christine F Carson, Ramesh Ram, Grant Morahan, Aron Chakera
The major complication of peritoneal dialysis (PD) is the development of peritonitis, an infection within the abdominal cavity, primarily caused by bacteria. PD peritonitis is associated with significant morbidity, mortality and health care costs. Staphylococcus epidermidis is the most frequently isolated cause of PD-associated peritonitis. Mesothelial cells are integral to the host response to peritonitis, and subsequent clinical outcomes, yet the effects of infection on mesothelial cells are not well characterised...
2017: PloS One
https://www.readbyqxmd.com/read/28537931/the-network-of-dab2ip-mir-138-in-regulating-drug-resistance-of-renal-cell-carcinoma-associated-with-stem-like-phenotypes
#14
Eun-Jin Yun, Jiancheng Zhou, Chun-Jung Lin, Shan Xu, John Santoyo, Elizabeth Hernandez, Chih-Ho Lai, Ho Lin, Dalin He, Jer-Tsong Hsieh
Targeted therapy is a standard of care for metastatic renal cell carcinoma (RCC) but the response rate is not overwhelmed, which only prolongs a short survival of patients due to the onset of therapeutic resistance. Although the mechanisms are not fully understood, the presence of cancer initiating cells (CIC) may underlie the drug resistance. Nevertheless, identifying CIC phenotypes with its biomarkers in RCC appear to be diverse and controversial from many reports. In this study, we took a different approach to focus on the regulatory mechanism in RCC-CIC and unveil DAB2IP-mediated miR-138 expression that plays a critical role in modulating stem-like phenotypes in RCC via targeting the ABC transporter (ABCA13) as well as oncogenic histone methyltransferase EZH2 while down regulation of miR-138 gene expression in RCC is due to epigenetic gene silencing by DNA methyltransferase 1 (DNMT1)...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28520756/de-novo-assembly-and-comparative-transcriptome-analysis-of-the-foot-from-chinese-green-mussel-perna-viridis-in-response-to-cadmium-stimulation
#15
Xinhui Zhang, Zhiqiang Ruan, Xinxin You, Jintu Wang, Jieming Chen, Chao Peng, Qiong Shi
The Chinese green mussel, Perna viridis, is a marine bivalve with important economic values as well as biomonitoring roles for aquatic pollution. Byssus, secreted by the foot gland, has been proved to bind heavy metals effectively. In this study, using the RNA sequencing technology, we performed comparative transcriptomic analysis on the mussel feet with or without inducing by cadmium (Cd). Our current work is aiming at providing insights into the molecular mechanisms of byssus binding to heavy metal ions. The transcriptome sequencing generated a total of 26...
2017: PloS One
https://www.readbyqxmd.com/read/28515341/bet-bromodomain-inhibition-suppresses-innate-inflammatory-and-profibrotic-transcriptional-networks-in-heart-failure
#16
Qiming Duan, Sarah McMahon, Priti Anand, Hirsh Shah, Sean Thomas, Hazel T Salunga, Yu Huang, Rongli Zhang, Aarathi Sahadevan, Madeleine E Lemieux, Jonathan D Brown, Deepak Srivastava, James E Bradner, Timothy A McKinsey, Saptarsi M Haldar
Despite current standard of care, the average 5-year mortality after an initial diagnosis of heart failure (HF) is about 40%, reflecting an urgent need for new therapeutic approaches. Previous studies demonstrated that the epigenetic reader protein bromodomain-containing protein 4 (BRD4), an emerging therapeutic target in cancer, functions as a critical coactivator of pathologic gene transactivation during cardiomyocyte hypertrophy. However, the therapeutic relevance of these findings to human disease remained unknown...
May 17, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28511612/ngs-analysis-on-tumor-tissue-and-cfdna-for-genotype-directed-therapy-in-metastatic-nsclc-patients-between-hope-and-hype
#17
Alexander T Falk, Simon Heeke, Véronique Hofman, Virginie Lespinet, Camille Ribeyre, Olivier Bordone, Michel Poudenx, Josiane Otto, Georges Garnier, Olivier Castelnau, Joël Guigay, Sylvie Leroy, Charles-Hugo Marquette, Paul Hofman, Marius Ilié
The advent of genomic based precision medicine led to the implementation of biomarker testing in metastatic non-small cell lung cancer (NSCLC) patients. Next generation sequencing (NGS) has been recently implemented to routine diagnostic requirements in lung oncology. Areas covered: Two cases of patients with metastatic NSCLC for whom NGS analysis performed on both tumor and liquid biopsy has not improved the clinical course of their disease are reported. These cases illustrate the difficulty of the so-called 'personalized or precision' medicine in clinical routine practice for metastatic NSCLC...
May 22, 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28507539/new-insight-into-inter-kingdom-communication-horizontal-transfer-of-mobile-small-rnas
#18
REVIEW
Geyu Zhou, Yu Zhou, Xi Chen
Small RNAs (sRNAs), including small interfering RNAs (siRNAs) and microRNAs (miRNAs), are conventionally regarded as critical molecular regulators of various intracellular processes. However, recent accumulating evidence indicates that sRNAs can be transferred within cells and tissues and even across species. In plants, nematodes and microbes, these mobile sRNAs can mediate inter-kingdom communication, environmental sensing, gene expression regulation, host-parasite defense and many other biological functions...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28501829/genetic-causes-of-optic-nerve-hypoplasia
#19
REVIEW
Chun-An Chen, Jiani Yin, Richard Alan Lewis, Christian P Schaaf
Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing number of genes has been reported, mutations of which can cause ONH. Many of the genes involved serve as transcription factors, participating in an intricate multistep process critical to eye development and neurogenesis in the neural retina...
May 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28475952/on-site-identification-of-meat-species-in-processed-foods-by-a-rapid-real-time-polymerase-chain-reaction-system
#20
Shunsuke Furutani, Yoshihisa Hagihara, Hidenori Nagai
Correct labeling of foods is critical for consumers who wish to avoid a specific meat species for religious or cultural reasons. Therefore, gene-based point-of-care food analysis by real-time Polymerase Chain Reaction (PCR) is expected to contribute to the quality control in the food industry. In this study, we perform rapid identification of meat species by our portable rapid real-time PCR system, following a very simple DNA extraction method. Applying these techniques, we correctly identified beef, pork, chicken, rabbit, horse, and mutton in processed foods in 20min...
April 22, 2017: Meat Science
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