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https://www.readbyqxmd.com/read/29444168/identifying-genetic-risk-loci-for-diabetic-complications-and-showing-evidence-for-heterogeneity-of-type-1-diabetes-based-on-complications-risk
#1
Nandita Mukhopadhyay, Janelle A Noble, Manika Govil, Mary L Marazita, David A Greenberg
There is a growing body of evidence suggesting that type 1 diabetes (T1D) is a genetically heterogeneous disease. However, the extent of this heterogeneity, and what observations may distinguish different forms, is unclear. One indicator may be T1D-related microvascular complications (MVCs), which are familial, but occur in some families, and not others. We tested the hypothesis that T1D plus MVC is genetically distinct from T1D without MCV. We studied 415 families (2,462 individuals, 896 with T1D) using genome-wide linkage analysis, comparing families with and without MVC...
2018: PloS One
https://www.readbyqxmd.com/read/29444109/population-structure-of-the-npgs-senegalese-sorghum-collection-and-its-evaluation-to-identify-new-disease-resistant-genes
#2
Hugo E Cuevas, Louis K Prom, Giseiry Rosa-Valentin
Sorghum germplasm from West and Central Africa is cultivated in rainy and high humidity regions and is an important source of resistance genes to fungal diseases. Mold and anthracnose are two important biotic constraints to sorghum production in wet areas worldwide. Here, 158 National Plant Germplasm System (NPGS) accessions from Senegal were evaluated for agronomic traits, anthracnose, and grain mold resistance at two locations, and genetically characterized according to 20 simple sequence repeat markers. A total of 221 alleles were amplified with an average of 11 alleles per locus...
2018: PloS One
https://www.readbyqxmd.com/read/29443789/polymorphisms-of-drug-metabolizing-enzyme-cyp2e1-in-chinese-uygur-population
#3
Linhao Zhu, Yongjun He, Fanglin Niu, Mengdan Yan, Jing Li, Dongya Yuan, Tianbo Jin
Pharmacogenetics is the genetic basis of pharmacokinetics, genetic testing, and clinical management in diseases. Evaluation about genetic alterations of drug metabolizing enzymes in human genome contributes toward understanding the interindividual and interethnic variability for clinical response to potential toxicants. CYP2E1 gene encodes a drug-metabolizing enzyme that metabolizes mostly small, polar molecules, including toxic laboratory chemicals. The aim of this study was to investigate CYP2E1 polymorphisms and gene profile in a Chinese Uygur population...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443768/association-of-human-leukocyte-antigen-hla-dq-and-hla-dqa1-dqb1-alleles-with-vogt-koyanagi-harada-disease-a-systematic-review-and-meta-analysis
#4
Bing Liu, Tuo Deng, Linxin Zhu, Jingxiang Zhong
OBJECTIVE: The aim of this study was to evaluate the association of human leukocyte antigen (HLA)-DQ and HLA-DQA1/DQB1 alleles with Vogt-Koyanagi-Harada (VKH), providing further evidences on the genetic background of this disease. METHODS: A comprehensive literature search was conducted on the relationship of HLA-DQ and/or HLA-DQA1/DQB1 alleles with VKH through PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, VIP, and databases for grey literature...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443756/ulcerative-colitis-followed-by-the-development-of-typical-intestinal-beh%C3%A3-et-disease-a-case-report
#5
Zhenhua Zhu, Xu Shu, Shunhua Long, Xiaozhen Jiang, Nonghua Lu, Xuan Zhu, Wangdi Liao
RATIONALE: Intestinal Behçet disease (intestinal BD) and inflammatory bowel disease (IBD) share a lot of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia, eye lesions, skin lesions, etc, but the coexistence of these 2 diseases are uncommon. Behçet disease with gastrointestinal involvement in ulcerative colitis (UC) patient has been reported in just 1 previous case report, but, which can not be diagnosed as definite intestinal BD based on Korean novel diagnositic criteria due to lacking the typical ileocecal ulcer...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443612/elevated-vasodilatory-cyclases-and-shorter-telomere-length-contribute-to-high-altitude-pulmonary-edema
#6
Manjari Rain, Himanshi Chaudhary, Ritushree Kukreti, Tashi Thinlas, Ghulam Mohammad, Qadar Pasha
Rain, Manjari, Himanshi Chaudhary, Ritushree Kukreti, Tashi Thinlas, Ghulam Mohammad, and Qadar Pasha. Elevated Vasodilatory Cyclases and Shorter Telomere Length Contribute to High-Altitude Pulmonary Edema. High Alt Med Biol. 00:000-000, 2018. AIM: High-altitude (HA) genetics is complex with respect to health and disease (HA pulmonary edema i.e., HAPE). Based on the widely recognized fact that oxidative stress is a major trigger of several physiological processes, this study was designed to establish the significance of vasodilatory cyclases and telomere length in HA physiology...
February 14, 2018: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/29443102/expression-of-exogenous-antigens-in-the-mycobacterium-bovis-bcg-vaccine-via-non-genetic-surface-decoration-with-the-avidin-biotin-system
#7
Ting-Yu Angela Liao, Alice Lau, Joseph Sunil, Vesa Hytönen, Zakaria Hmama
Tuberculosis (TB) is a serious infectious disease and the only available vaccine M. bovis bacillus Calmette-Guérin (BCG) is safe and effective for protection against children's severe TB meningitis and some forms of disseminated TB, but fails to protect against pulmonary TB, which is the most prevalent form of the disease. Promising strategies to improve BCG currently rely either on its transformation with genes encoding immunodominant M. tuberculosis (Mtb)-specific antigens and/or complementation with genes encoding co-factors that would stimulate antigen presenting cells...
January 31, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29443066/constitutive-and-inducible-systems-for-genetic-in-vivo-modification-of-mouse-hepatocytes-using-hydrodynamic-tail-vein-injection
#8
Eric K Hubner, Christian Lechler, Thomas N Rösner, Birgit Kohnke-Ertel, Roland M Schmid, Ursula Ehmer
In research models of liver cancer, regeneration, inflammation, and fibrosis, flexible systems for in vivo gene expression and silencing are highly useful. Hydrodynamic tail vein injection of transposon-based constructs is an efficient method for genetic manipulation of hepatocytes in adult mice. In addition to constitutive transgene expression, this system can be used for more advanced applications, such as shRNA-mediated gene knock-down, implication of the CRISPR/Cas9 system to induce gene mutations, or inducible systems...
February 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29442594/pharmacoperones-as-novel-therapeutics-for-diverse-protein-conformational-diseases
#9
Ya-Xiong Tao, P Michael Conn
After synthesis, proteins are folded into their native conformations aided by molecular chaperones. Dysfunction in folding caused by genetic mutations in numerous genes causes protein conformational diseases. Membrane proteins are more prone to misfolding due to their more intricate folding than soluble proteins. Misfolded proteins are detected by the cellular quality control systems, especially in the endoplasmic reticulum, and proteins may be retained there for eventual degradation by the ubiquitin-proteasome system or through autophagy...
April 1, 2018: Physiological Reviews
https://www.readbyqxmd.com/read/29442484/role-of-genetic-and-metabolism-in-non-alcoholic-fatty-liver-disease
#10
Ludovico Abenavoli, Rinaldo Pellicano, Luigi Boccuto
No abstract text is available yet for this article.
February 13, 2018: Panminerva Medica
https://www.readbyqxmd.com/read/29442465/polymorphism-of-gly39glu-c-116g-a-hmsh6-is-associated-with-sporadic-colorectal-cancer-development-in-the-polish-population-preliminary-results
#11
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
BACKGROUND: Colorectal cancer (CRC) remains a major source of cancer-related mortality, accounting for 10% of all cancer-related deaths. DNA mismatch repair mechanism (MMR) responsible for correcting errors generated during DNA replication and its deficiency is associated with both hereditary and sporadic CRC. Single-nucleotide polymorphisms (SNPs) are the most common forms of genetic variation, and it has been shown that the SNPs in MMR genes may modify CRC risk. OBJECTIVES: The aim of the study was to determine the relationship between gene polymorphism Glu39Gly (c...
December 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29442441/a-comprehensive-review-of-the-genetic-and-biological-evidence-supports-a-role-for-microrna-137-in-the-etiology-of-schizophrenia
#12
REVIEW
Kensuke Sakamoto, James J Crowley
Since it was first associated with schizophrenia (SCZ) in a 2011 genome-wide association study (GWAS), there have been over 100 publications focused on MIR137, the gene encoding microRNA-137. These studies have examined everything from its fundamental role in the development of mice, flies, and fish to the intriguing enrichment of its target gene network in SCZ. Indeed, much of the excitement surrounding MIR137 is due to the distinct possibility that it could regulate a gene network involved in SCZ etiology, a disease which we now recognize is highly polygenic...
March 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29442381/fostering-caring-relationships-suggestions-to-rethink-liberal-perspectives-on-the-ethics-of-newborn-screening
#13
Simone van der Burg, Anke Oerlemans
Newborn screening (NBS) involves the collection of blood from the heel of a newborn baby and testing it for a list of rare and inheritable disorders. New biochemical screening technologies led to expansions of NBS programs in the first decade of the 21st century. It is expected that they will in time be replaced by genetic sequencing technologies. These developments have raised a lot of ethical debate. We reviewed the ethical literature on NBS, analyzed the issues and values that emerged, and paid particular interest to the type of impacts authors think NBS should have on the lives of children and their families...
March 2018: Bioethics
https://www.readbyqxmd.com/read/29442258/evaluation-of-the-effects-of-mirnas-in-familial-mediterranean-fever
#14
Hacer Orsdemir Hortu, Emin Karaca, Betul Sozeri, Nesrin Gulez, Balahan Makay, Cumhur Gunduz, Tahir Atik, Ismihan Merve Tekin, Sevket Erbil Unsal, Cogulu Ozgur
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder that can result in attacks with accompanying recurrent episodes of fever, serositis, and skin rash. MiRNAs are demonstrated to be associated with a number of other diseases; however, no comprehensive study has revealed its association with FMF disease. The aim is to investigate the role of microRNAs in FMF. We included 51 patients with genetically diagnosed FMF who had clinical symptoms and 49 healthy volunteers. Fifteen miRNAs that were found to be associated with autoinflammatory diseases and have a part in immune response were evaluated...
February 13, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29442038/non-viral-gene-delivery-systems-hurdles-for-bench-to-bedside-transformation
#15
N A Helal, A Osami, A Helmy, T McDonald, L A Shaaban, M I Nounou
Biologist and Nobel Prize winner James Watson's quote, "We used to think that our fate was in our stars, but now we know that, in large measure, our fate is in our genes", represents the initial food for thought that revolutionized the way medications and active pharmaceutical ingredients are defined (Rocholl 1996). This fate engraved in the genetic material, as mentioned in Watson's quote, fueled a tremendous revolution wave in gene therapy. Gene therapy is a promising technology for treating genetic and acquired diseases by modulating the expression of a specific gene in the pathological cells...
November 1, 2017: Die Pharmazie
https://www.readbyqxmd.com/read/29441747/the-complexity-of-pediatric-multifocal-atrial-tachycardia-and-its-prognostic-factors
#16
Seung Min Baek, Hyun Chung, Mi Kyoung Song, Eun Jung Bae, Gi Beom Kim, Chung Il Noh
BACKGROUND AND OBJECTIVES: Multifocal atrial tachycardia (MAT), in general, has a favorable outcome. However, there are insufficient data regarding MAT in a pediatric population. This study sought to determine the clinical course of MAT and identify potential prognostic factors. METHODS: The medical records of MAT patients from 1997-2015 were reviewed. The arrhythmia control rate and factors for unfavorable outcomes were assessed and compared to those in the literature...
February 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29441659/genetic-polymorphisms-associated-with-circadian-rhythm-dysregulation-provide-new-perspectives-on-bipolar-disorder
#17
REVIEW
Thomaz Oliveira, Victor Marinho, Valécia Carvalho, Francisco Magalhães, Kaline Rocha, Carla Ayres, Silmar Teixeira, Monara Nunes, Victor Hugo Bastos, Giovanny R Pinto
OBJECTIVES: The objective of this study was to present a broad view of how genetic polymorphisms in genes that control the rhythmicity and function of circadian rhythm may influence the etiology, pathophysiology and treatment of bipolar disorder (BD). METHODS: A bibliographic search was performed to identify and select papers reporting studies on variations in circadian genes and BD. A search of Medline, Google Scholar, Scopus, and Web of Science was carried out to review the literature...
February 13, 2018: Bipolar Disorders
https://www.readbyqxmd.com/read/29441627/a-targeted-genotyping-approach-enhances-identification-of-variants-in-taste-receptor-and-appetite-reward-genes-of-potential-functional-importance-for-obesity-related-porcine-traits
#18
S Cirera, A Clop, M J Jacobsen, M Guerin, P Lesnik, C B Jørgensen, M Fredholm, P Karlskov-Mortensen
Taste receptors (TASRs) and appetite and reward (AR) mechanisms influence eating behaviour, which in turn affects food intake and risk of obesity. In a previous study, we used next generation sequencing to identify potentially functional mutations in TASR and AR genes and found indications for genetic associations between identified variants and growth and fat deposition in a subgroup of animals (n = 38) from the UNIK resource pig population. This population was created for studying obesity and obesity-related diseases...
February 14, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29441510/translating-the-combination-of-gene-therapy-and-tissue-engineering-for-treating-recessive-dystrophic-epidermolysis-bullosa
#19
A Dakiw Piaceski, D Larouche, K Ghani, F Bisson, S Cortez Ghio, S Larochelle, M J Moulin, M Caruso, L Germain
The combination of gene therapy and tissue engineering is one of the most promising strategies for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). RDEB is a rare genetic disease characterised by mutations in the COL7A1 gene, encoding type VII collagen (COLVII), which forms anchoring fibrils at the dermal-epidermal junction of the skin. This disease causes severe blistering and only palliative treatments are offered. In this study, the base of a strategy combining gene therapy and a tissue-engineered skin substitute (TES), which would be suitable for the permanent closure of skin wounds, was set-up...
February 14, 2018: European Cells & Materials
https://www.readbyqxmd.com/read/29441485/clinical-spectrum-of-c9orf72-expansion-in-a-cohort-of-huntington-s-disease-phenocopies
#20
Joana Martins, Joana Damásio, Alexandre Mendes, Nuno Vila-Chã, José E Alves, Cristina Ramos, Sara Cavaco, João Silva, Isabel Alonso, Marina Magalhães
The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database. C9orf72 gene expansion was detected using repeat-primed PCR. Clinical files were reviewed to characterize the phenotype of expansion-positive cases. One patient (5%) was positive for the C9orf72 expansion...
February 13, 2018: Neurological Sciences
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