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https://www.readbyqxmd.com/read/28454473/methylation-pattern-of-preferentially-expressed-antigen-of-melanoma-in-acute-myeloid-leukemia-and-myelodysplastic-syndromes
#1
Ya-Zhen Qin, Yan-Huan Zhang, Xiao-Ying Qin, Hong-Hu Zhu
Preferentially expressed antigen of melanoma (PRAME), a tumor-associated antigen, is overexpressed in a variety of hematologic malignancies with a great variation in expression. The majority of patients with acute myeloid leukemia (AML) 1-eight-twenty one (ETO)(+) AML and a certain number of myelodysplastic syndromes (MDS) have an abnormally high increase in PRAME expression level. The landscape of PRAME methylation requires evaluation in order to determine the most relevant sites and the exact association of its methylation with expression level and type of disease...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#2
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454357/expression-regulation-and-function-of-mir-495-in-healthy-and-tumor-tissues
#3
Hongli Chen, Xiaman Wang, Ju Bai, Aili He
MicroRNA-495 (miR-495) is a small non-coding RNA encoded by a gene located on chromosome 14 (14q32.31). Its expression is regulated by the transcription factors EF12 and EF47, in addition to promoter methylation status and the fusion oncoprotein mixed-lineage leukemia-AF9. Previous studies suggest that miR-495 is involved in various developmental, immunological and inflammatory processes in healthy tissue, and in the proliferation, invasion, metastasis and drug resistance of cancer cells. The role miR-495 serves in tumors is controversial...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454201/-identical-variants-different-disease-course-genetics-of-chronic%C3%A2-pancreatitis
#4
Sebastian Beer, Joachim Mössner
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454200/-genetic-causes-of-endocrine-diseases-using-the-example-of%C3%A2-endocrine-tumor-syndromes
#5
Nicole Unger, Anna Lisa Klocker, Dagmar Führer
No abstract text is available yet for this article.
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454199/-genetic-diagnostics-for-cardiomyopathies
#6
Frauke Czepluch, Bernd Wollnik, Gerd Hasenfuß
Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454198/-no-magic-bullet-genetic-diagnostics-and-predictive-testing
#7
Heiko Witt
The enormous increase in knowledge about the genetic basis of human diseases, combined with the rapid development of genetic techniques, has led to the possible use of genetic tests in medical diagnostics to a degree previously unknown. In addition, predictive genetic diagnostics has the aim of identifying hereditary disease risks in healthy individuals in order to take precautionary measures. However, the assessment of genetic findings is still subject to numerous problems. In particular, in the case of disease prediction, only probability statements can be made since endogenous and exogenous factors influence the penetrance and expressivity of genetically determined diseases...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28453848/association-of-the-emergence-of-acyclovir-resistant-herpes-simplex-virus-type-1-with-prognosis-in-hematopoietic-stem-cell-transplantation-patients
#8
Satsuki Kakiuchi, Masanori Tsuji, Hidekazu Nishimura, Tomoki Yoshikawa, Lixin Wang, Mutsuyo Takayama-Ito, Hitomi Kinoshita, Chang-Kweng Lim, Hikaru Fujii, Souichi Yamada, Shizuko Harada, Akira Oka, Masashi Mizuguchi, Shuichi Taniguchi, Masayuki Saijo
Background.: Antiviral-resistant herpes simplex virus type 1 (HSV-1) has been recognized as an emerging clinical problem among patients undergoing hematopoietic stem cell transplantation (HSCT). Methods.: A prospective observational study was conducted at a hematological center over a 2-year period. Oropharyngeal swab samples were serially collected each week from 1 week before and up to 100 days after HSCT and were tested for virus isolation. The HSV-1 isolates were tested for sensitivity to acyclovir (ACV)...
March 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28453757/incidence-and-phenotype-at-diagnosis-of-very-early-onset-compared-with-later-onset-paediatric-inflammatory-bowel-disease-a-population-based-study-1988-2011
#9
E Bequet, H Sarter, M Fumery, F Vasseur, L Armengol-Debeir, B Pariente, D Ley, C Spyckerelle, H Coevoet, J E Laberenne, L Peyrin-Biroulet, G Savoye, D Turck, C Gower-Rousseau
Background and Aims: Very-early-onset inflammatory bowel disease [VEO-IBD] is a form of IBD that is distinct from that of children with an older onset. We compared changes over time in the incidence and phenotype at diagnosis between two groups according to age at IBD diagnosis: VEO-IBD diagnosed before the age of 6 years, and early-onset IBD [EO-IBD] diagnosed between 6 and 16 years of age. Methods: Data were obtained from a cohort enrolled in a prospective French population-based registry from 1988 to 2011...
May 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28453600/whole-exome-sequencing-in-eight-thai-patients-with-leber-congenital-amaurosis-reveals-mutations-in-the-ctnna1-and-cyp4v2-genes
#10
Worapoj Jinda, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28453560/caspase-polymorphisms-and-prognosis-of-hepatocellular-carcinoma
#11
Song Zhang, Qianyi Xiao, Zhuqing Shi, Guopeng Yu, Xiao-Pin Ma, Haitao Chen, Pengyin Zhang, Suqin Shen, He-Xi Ge Sai-Yin, Tao-Yang Chen, Pei-Xin Lu, Neng-Jin Wang, Weihua Ren, Peng Huang, Jun Xie, Carly Conran, S Lilly Zheng, Long Yu, Jianfeng Xu, De-Ke Jiang
The aim of our study was to determine the impact of genetic polymorphisms in the caspase (CASP) genes on prognosis of hepatocellular carcinoma (HCC). We genotyped 7 potentially functional polymorphisms in CASP3, CASP7, CASP8, CASP9, CASP10 genes in 362 HCC patients of receiving surgical resection of HCC tumor. The associations of genotype and haplotype with overall survival (OS) and disease free survival (DFS) were analyzed by using the Cox proportional hazards model. We found that the CASP9 rs4645981 C allele was significantly associated with positive effect on DFS (P = 0...
2017: PloS One
https://www.readbyqxmd.com/read/28453551/associations-between-cytokine-gene-polymorphisms-and-susceptibility-to-helicobacter-pylori-infection-and-helicobacter-pylori-related-gastric-cancer-peptic-ulcer-disease-a-meta-analysis
#12
Jingjing Ma, Dandan Wu, Xue Hu, Jiao Li, Mingwei Cao, Weiguo Dong
OBJECTIVES: The aim of this study is to clarify the associations between IL-1B31C/T, IL-1B-511C/T, IL-8-251T/A gene polymorphisms and the risk of Helicobacter pylori (H. pylori) infection together with H. pylori-related gastric cancer (GC), peptic ulcer disease (PUD). METHODS: All eligible literature published up to July 2016 were identified by searching Pubmed, Embase, Web of Science and CNKI. Pooled odds ratio (OR) and 95% confidence interval (95% CI) were calculated using a fixed or random effects model...
2017: PloS One
https://www.readbyqxmd.com/read/28453513/genetic-diversity-and-population-structure-of-the-tsetse-fly-glossina-fuscipes-fuscipes-diptera-glossinidae-in-northern-uganda-implications-for-vector-control
#13
Robert Opiro, Norah P Saarman, Richard Echodu, Elizabeth A Opiyo, Kirstin Dion, Alexis Halyard, Augustine W Dunn, Serap Aksoy, Adalgisa Caccone
Uganda is the only country where the chronic and acute forms of human African Trypanosomiasis (HAT) or sleeping sickness both occur and are separated by < 100 km in areas north of Lake Kyoga. In Uganda, Glossina fuscipes fuscipes is the main vector of the Trypanosoma parasites responsible for these diseases as well for the animal African Trypanosomiasis (AAT), or Nagana. We used highly polymorphic microsatellite loci and a mitochondrial DNA (mtDNA) marker to provide fine scale spatial resolution of genetic structure of G...
April 28, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28453483/remyelination-a-potential-therapeutic-strategy-for-alzheimer-s-disease
#14
Junjun Sun, Hong Zhou, Feng Bai, Zhijun Zhang, Qingguo Ren
Myelin is a lipid-rich multilamellar membrane that wraps around long segments of neuronal axons and it increases the conduction of action potentials, transports the necessary trophic support to the neuronal axons, and reduces the energy consumed by the neuronal axons. Together with axons, myelin is a prerequisite for the higher functions of the central nervous system and complex forms of network integration. Myelin impairments have been suggested to lead to neuronal dysfunction and cognitive decline. Accumulating evidence, including brain imaging and postmortem and genetic association studies, has implicated myelin impairments in Alzheimer's disease (AD)...
April 28, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28453474/neuropsychological-profile-in-the-c9orf72-associated-behavioral-variant-frontotemporal-dementia
#15
Noora-Maria Suhonen, Ramona M Haanpää, Ville Korhonen, Jari Jokelainen, Anni Pitkäniemi, Anna-Leena Heikkinen, Johanna Krüger, Päivi Hartikainen, Seppo Helisalmi, Mikko Hiltunen, Tuomo Hänninen, Anne M Remes
While the C9ORF72 expansion is a major cause of behavioral variant frontotemporal dementia (bvFTD), little is known of the resultant cognitive profile. Our aim was to characterize the neuropsychological profile of the C9ORF72 associated bvFTD. We contrasted structured neuropsychological assessments of the C9ORF72 expansion carrier bvFTD patients (n = 26) with non-carrier bvFTD patients (n = 47) and those with Alzheimer's disease (AD) (n = 47). As compared to the non-carrier bvFTD patients, the C9ORF72 expansion carriers performed at a higher level in an immediate verbal memory test while showing poorer phonemic verbal fluency...
April 28, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28453375/genetic-factors-influencing-the-reduction-of-central-corneal-thickness-in-disorders-affecting-the-eye
#16
Joanna Swierkowska, Marzena Gajecka
BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453302/variant-in-galnt3-gene-linked-with-reduced-coronary-artery-disease-risk-in-chinese-population
#17
Liwei Guo, Duan Li, Mengting Li, Lin Li, Yanmei Huang
AIM: Our previous study found expression of GALNT3 gene was reduced in coronary artery disease (CAD) patients, and it contributed to endothelial injury by regulating apoptosis and matrix metalloproteinase (MMP) expression. GALNT3 gene may be a potential target for future therapeutic intervention of CAD. However, none reports linking the GALNT3 gene to susceptibility of CAD. This study investigated the variant associations of GALNT3 gene and CAD. METHODS: Thirteen single nucleotide polymorphism (SNP) in and around the GALNT3 gene were tagged and analyzed in CAD patients (n = 1515) and control individuals (n = 5019), and the SNPs with CAD were tested with multiple logistic regression analysis in an additive genetic model (with one degree of freedom) after adjusting for age and sex...
April 28, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28453285/pharmacological-reprogramming-of-somatic-cells-for-regenerative-medicine
#18
Min Xie, Shibing Tang, Ke Li, Sheng Ding
Lost or damaged cells in tissues and organs can be replaced by transplanting therapeutically competent cells. This approach requires methods that effectively manipulate cellular identities and properties to generate sufficient numbers of desired cell types for transplantation. These cells can be generated by reprogramming readily available somatic cells, such as fibroblasts, into induced pluripotent stem cells (iPSCs), which can replicate indefinitely and give rise to any somatic cell type. This reprogramming can be achieved with genetic methods, such as forced expression of pluripotency-inducing transcription factors (TFs), which can be further improved, or even avoided, with pharmacological agents...
April 28, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28449375/the-genetic-dimension-of-pest-pressure-in-the-tropical-rainforest
#19
Marco Todesco, Quentin Cronk
Wet tropical forests are among the most diverse ecosystems on Earth and can host several hundreds of tree species per hectare. To maintain such diversity, the community must contain large numbers of relatively rare species rather than be dominated by a few very common trees, as is often the case in temperate forests. Explaining the mechanisms preventing dominance by common species has been a major task of tropical forest ecology. One of the most promising mechanisms is negative density dependence (NDD) of tree abundance driven by pests, including fungal diseases ('pest pressure')...
May 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28449344/endoscopic-features-and-genetic-background-of-inflammatory-bowel-disease-complicated-with-takayasu-arteritis
#20
Shintaro Akiyama, Toshimitsu Fujii, Katsuyoshi Matsuoka, Ebana Yusuke, Mariko Negi, Kento Takenaka, Masakazu Nagahori, Kazuo Ohtsuka, Mitsuaki Isobe, Mamoru Watanabe
BACKGROUND AND AIM: Takayasu arteritis (TA) is occasionally complicated with inflammatory bowel disease (IBD). This study assessed the endoscopic and genetic features of IBD complicated with TA (IBD-TA). METHODS: This study retrospectively reviewed the clinical charts of 142 TA patients (14 men and 128 women; median age 48.5 years [range, 18-97 years]). Human lymphocyte antigen (HLA) types and a single-nucleotide polymorphism rs6871626 in the IL12B gene were assessed in 101 and 81 patients with TA, respectively...
May 2017: Journal of Gastroenterology and Hepatology
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