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https://www.readbyqxmd.com/read/28934431/genetic-profiling-and-comorbidities-of-zika-infection
#1
Mohammad Ali Moni, Pietro Lio'
Background: The difficulty in distinguishing infection by Zika virus (ZIKV) from other flaviviruses is a global health concern, particularly given the high risk of neurologic complications (including Guillain-Barré syndrome [GBS]) with ZIKV infection. Methods: We developed quantitative frameworks to compare and explore infectome, diseasome, and comorbidity of ZIKV infections. We analyzed gene expression microarray and RNA-Seq data from ZIKV, West Nile fever (WNF), chikungunya, dengue, yellow fever, Japanese encephalitis virus, GBS, and control datasets...
September 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28931804/cross-ethnic-meta-analysis-identifies-association-of-the-gpx3-tnip1-locus-with-amyotrophic-lateral-sclerosis
#2
Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K Henders, Rosalind L Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P McCann, Bryan J Mowry, Shyuan T Ngo, Roger Pamphlett, Shu Ran, David C Reutens, Dominic B Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H van den Berg, Wouter van Rheenen, Jan H Veldink, Robyn H Wallace, Lawrie Wheeler, Kelly L Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G Noakes, Ian P Blair, Robert D Henderson, Pamela A McCombe, Peter M Visscher, Huji Xu, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28922377/c-reactive-protein-upregulates-the-whole-blood-expression-of-cd59-an-integrative-analysis
#3
Kaido Lepik, Tarmo Annilo, Viktorija Kukuškina, Kai Kisand, Zoltán Kutalik, Pärt Peterson, Hedi Peterson
Elevated C-reactive protein (CRP) concentrations in the blood are associated with acute and chronic infections and inflammation. Nevertheless, the functional role of increased CRP in multiple bacterial and viral infections as well as in chronic inflammatory diseases remains unclear. Here, we studied the relationship between CRP and gene expression levels in the blood in 491 individuals from the Estonian Biobank cohort, to elucidate the role of CRP in these inflammatory mechanisms. As a result, we identified a set of 1,614 genes associated with changes in CRP levels with a high proportion of interferon-stimulated genes...
September 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28919064/genetics-of-obesity-what-genetic-association-studies-have-taught-us-about-the-biology-of-obesity-and-its-complications
#4
REVIEW
Mark O Goodarzi
Genome-wide association studies (GWAS) for BMI, waist-to-hip ratio, and other adiposity traits have identified more than 300 single-nucleotide polymorphisms (SNPs). Although there is reason to hope that these discoveries will eventually lead to new preventive and therapeutic agents for obesity, this will take time because such developments require detailed mechanistic understanding of how an SNP influences phenotype (and this information is largely unavailable). Fortunately, absence of functional information has not prevented GWAS findings from providing insights into the biology of obesity...
September 14, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#5
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28916927/genetic-test-risk-prediction-and-counseling
#6
Maggie Haitian Wang, Haoyi Weng
Advancement in technology has nurtured the new era of genetic tests for personalized medicine. In this chapter, we will introduce the current development, challenges, and the outlook of genetic test, disease risk prediction, and genetic counseling. In the first section, we will present the success cases in the areas of molecular classification of tumors, pharmacogenomics, and Mendelian disorders, and the challenges of genetic tests implementations. In the second section, common methods for genetic risk prediction models and evaluation measures will be introduced, as well as challenges in feature reliability, risk model stability, and clinical utility...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916491/controversy-and-debate-on-clinical-genomics-sequencing-paper-2-clinical-genome-wide-sequencing-don-t-throw-out-the-baby-with-the-bathwater
#7
Shelin Adam, Jan M Friedman
Genome-wide (exome or whole genome) sequencing with appropriate genetic counselling should be considered for any patient with a suspected mendelian disease that has not been identified by conventional testing.Clinical genome-wide sequencing provides a powerful and effective meansof identifying specific genetic causes of serious disease and improving clinical care.
September 12, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/28905880/mutations-in-rars-cause-a-hypomyelination-disorder-akin-to-pelizaeus-merzbacher-disease
#8
Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg, Claudia Weiß, Corinne Boehm, Kristina Prelog, Robert Ouvrier, John Christodoulou
Pelizaeus-Merzbacher disease (PMD) is a rare Mendelian disorder characterised by central nervous system hypomyelination. PMD typically manifests in infancy or early childhood and is caused by mutations in proteolipid protein-1 (PLP1). However, variants in several other genes including gap junction protein gamma 2 (GJC2) can also cause a similar phenotype and are referred to PMD-like disease (PMLD). Whole-exome sequencing in two siblings presenting with clinical symptoms of PMD revealed a homozygous variant in the arginyl-tRNA synthetase (RARS) gene: NM_002887...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28895531/genetic-identification-of-a-common-collagen-disease-in-puerto-ricans-via-identity-by-descent-mapping-in-a-health-system
#9
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli Ea Stahl, Judy H Cho, Ruth Jf Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature...
September 12, 2017: ELife
https://www.readbyqxmd.com/read/28894945/a-tabersonine-3-reductase-catharanthus-roseus-mutant-accumulates-vindoline-pathway-intermediates
#10
Alison Edge, Yang Qu, Michael L A E Easson, Antje M K Thamm, Kyung Hee Kim, Vincenzo De Luca
Monoterpenoid indole alkaloids (MIAs) have remarkable biological properties that have led to their medical uses for a variety of human diseases. Mutagenesis has been used to generate plants with new alkaloid profiles and a useful screen for rapid comparison of MIA profiles is described. The MIA mutants identified are useful for investigating MIA biosynthesis and for targeted production of these specialised metabolites. The Madagascar periwinkle (Catharanthus roseus) is the sole source of the dimeric anticancer monoterpenoid indole alkaloids (MIAs), 3',4'-anhydrovinblastine and derivatives, which are formed via the coupling of the MIAs, catharanthine and vindoline...
September 11, 2017: Planta
https://www.readbyqxmd.com/read/28893259/how-driving-endonuclease-genes-can-be-used-to-combat-pests-and-disease-vectors
#11
REVIEW
H Charles J Godfray, Ace North, Austin Burt
Driving endonuclease genes (DEGs) spread through a population by a non-Mendelian mechanism. In a heterozygote, the protein encoded by a DEG causes a double-strand break in the homologous chromosome opposite to where its gene is inserted and when the break is repaired using the homologue as a template the DEG heterozygote is converted to a homozygote. Some DEGs occur naturally while several classes of endonucleases can be engineered to spread in this way, with CRISPR-Cas9 based systems being particularly flexible...
September 11, 2017: BMC Biology
https://www.readbyqxmd.com/read/28889241/the-role-of-glycaemic-and-lipid-risk-factors-in-mediating-the-effect-of-bmi-on-coronary-heart-disease-a-two-step-two-sample-mendelian-randomisation-study
#12
Lin Xu, Maria Carolina Borges, Gibran Hemani, Debbie A Lawlor
AIMS/HYPOTHESIS: The extent to which effects of BMI on CHD are mediated by glycaemic and lipid risk factors is unclear. In this study we examined the effects of these traits using genetic evidence. METHODS: We used two-sample Mendelian randomisation to determine: (1) the causal effect of BMI on CHD (60,801 case vs 123,504 control participants), type 2 diabetes (34,840 case vs 114,981 control participants), fasting glucose (n = 46,186), insulin (n = 38,238), HbA1c (n = 46,368) and LDL-cholesterol, HDL-cholesterol and triacylglycerols (n = 188,577); (2) the causal effects of glycaemic and lipids traits on CHD; and (3) the extent to which these traits mediate any effect of BMI on CHD...
September 9, 2017: Diabetologia
https://www.readbyqxmd.com/read/28884921/survival-beyond-the-perinatal-period-expands-the-phenotypes-caused-by-mutations-in-gle1
#13
Edith Said, Jessica X Chong, Maja Hempel, Jonas Denecke, Paul Soler, Tim Strom, Deborah A Nickerson, Christian Kubisch, Michael J Bamshad, Davor Lessel
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28879700/whole-exome-sequencing-identifies-a-c-c2566t-mutation-in-the-androgen-receptor-in-a-chinese-family
#14
Zengge Wang, Yulin Zhou, Ruijuan Yang, Zhongmin Xia, Huan Zeng, Liya Du, Jun Ren, Qiwei Guo
BACKGROUND: Whole exome sequencing (WES) is one of the most valuable tools for the detection of Mendelian diseases in clinical laboratory. We performed WES for a family of 46,XY disorders of gender development and compared the applicability of public databases for the subsequent phenotype studies of WES-identified mutations. METHODS: DNA samples from the two patients were analyzed by WES. The mutated protein was studied using the HomoloGene database, Polyphen2, and SIFT...
September 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28874452/model-organisms-facilitate-rare-disease-diagnosis-and-therapeutic-research
#15
REVIEW
Michael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M Boycott, Philippe M Campeau, Hugo J Bellen
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions...
September 2017: Genetics
https://www.readbyqxmd.com/read/28866807/association-between-lipoprotein-a-level-and-type-2-diabetes-no-evidence-for-a-causal-role-of-lipoprotein-a-and-insulin
#16
Nikolaus Buchmann, Markus Scholz, Christina M Lill, Ralph Burkhardt, Rahel Eckardt, Kristina Norman, Markus Loeffler, Lars Bertram, Joachim Thiery, Elisabeth Steinhagen-Thiessen, Ilja Demuth
AIMS: Inverse relationships have been described between the largely genetically determined levels of serum/plasma lipoprotein(a) [Lp(a)], type 2 diabetes (T2D) and fasting insulin. Here, we aimed to evaluate the nature of these relationships with respect to causality. METHODS: We tested whether we could replicate the recent negative findings on causality between Lp(a) and T2D by employing the Mendelian randomization (MR) approach using cross-sectional data from three independent cohorts, Berlin Aging Study II (BASE-II; n = 2012), LIFE-Adult (n = 3281) and LIFE-Heart (n = 2816)...
September 2, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#17
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28865061/severe-enteropathy-and-hypogammaglobulinemia-complicating-refractory-mycobacterium-tuberculosis-complex-disseminated-disease-in-a-child-with-il-12r%C3%AE-1-deficiency
#18
Andrés Augusto Arias, Carlos M Perez-Velez, Julio César Orrego, Marcela Moncada-Velez, Jessica Lineth Rojas, Alejandra Wilches, Andrea Restrepo, Mónica Trujillo, Carlos Garcés, Catalina Arango-Ferreira, Natalia González, Carmen Oleaga-Quintas, Diana Fernández, Johana Marcela Isaza-Correa, Diego Eduardo Gongóra, Daniel Gonzalez-Loaiza, Juan Esteban Sierra, Jean Laurent Casanova, Jacinta Bustamante, José Luis Franco
PURPOSE: Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by poorly virulent mycobacteria. Other infections such as salmonellosis and candidiasis are also reported. The purpose of this article is to describe a young boy affected with various infectious diseases caused by Mycobacterium tuberculosis complex, Salmonella sp, Klebsiella pneumonie, Citrobacter sp., and Candida sp, complicated with severe enteropathy and transient hypogammaglobulinemia...
September 1, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28862745/diagnostic-exome-sequencing-in-early-onset-parkinson-s-disease-confirms-vps13c-as-a-rare-cause-of-autosomal-recessive-parkinson-s-disease
#19
B Schormair, D Kemlink, B Mollenhauer, O Fiala, G Machetanz, J Roth, R Berutti, T M Strom, B Haslinger, C Trenkwalder, D Zahorakova, P Martasek, E Ruzicka, J Winkelmann
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease genes are discovered constantly. Therefore, whole exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance in early-onset sporadic PD, we performed diagnostic exome sequencing in 80 individuals with manifestation of PD symptoms at age 40 or earlier and a negative family history of PD. Variants in validated and candidate disease genes and risk factors for PD and atypical Parkinson syndromes were annotated, followed by further analysis for selected variants...
September 1, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28856502/mendelian-randomization-analysis-indicates-serum-urate-has-a-causal-effect-on-renal-function-in-chinese-women
#20
Jing Liu, Hui Zhang, Zheng Dong, Jingru Zhou, Yanyun Ma, Yuan Li, Qiaoxia Qian, Ziyu Yuan, Juan Zhang, Yajun Yang, Xiaofeng Wang, Xingdong Chen, Hejian Zou, Li Jin, Jiucun Wang
PURPOSE: High levels of serum uric acid can predict the progression of stage I and II chronic kidney disease (CKD), but whether serum urate is an independent risk factor or has causal impact on serum creatinine (SCr) and renal function remains unclear. METHODS: Mendelian randomization was used to determine whether serum uric acid had a causal effect on renal function, represented by estimated glomerular filtration rate (eGFR), with potential confounding factors, in 3734 subjects from the Taizhou Longitudinal Study...
August 30, 2017: International Urology and Nephrology
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