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https://www.readbyqxmd.com/read/29773266/genetic-interferonopathies-an-overview
#1
REVIEW
Despina Eleftheriou, Paul A Brogan
Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses. Although differing in the degree of phenotypic expression and severity, the clinical presentation of these diseases shows a considerable degree of overlap, reflecting their common pathogenetic mechanisms. Increased understanding of the molecular basis of these Mendelian disorders has led to the identification of targeted therapies for these diseases, which could also be of potential relevance for non-genetic IFN-mediated diseases such as systemic lupus erythematosus and juvenile dermatomyositis...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29772195/common-grounds-for-family-maladies
#2
Konrad Oexle, Juliane Winkelmann
Rare variants cause Mendelian family aggregation in subsets of common diseases, and common variants may contribute to rare diseases. In this issue of Neuron, Gormley et al. (2018) report that the common variant burden in familial migraine is larger than in migraine of the general population.
May 16, 2018: Neuron
https://www.readbyqxmd.com/read/29770612/identification-of-novel-mutations-causing-pediatric-cataract-in-bhutan-cambodia-and-sri-lanka
#3
Shari Javadiyan, Sionne E M Lucas, Dechen Wangmo, Meng Ngy, Kapila Edussuriya, Jamie E Craig, Adam Rudkin, Robert Casson, Dinesh Selva, Shiwani Sharma, Karen M Lower, James Meucke, Kathryn P Burdon
BACKGROUND: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. METHODS: We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29769798/novel-variants-identified-with-next-generation-sequencing-in-polish-patients-with-cone-rod-dystrophy
#4
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R Krawczynski
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL)...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29769526/a-whole-genome-sequence-study-identifies-genetic-risk-factors-for-neuromyelitis-optica
#5
Karol Estrada, Christopher W Whelan, Fengmei Zhao, Paola Bronson, Robert E Handsaker, Chao Sun, John P Carulli, Tim Harris, Richard M Ransohoff, Steven A McCarroll, Aaron G Day-Williams, Benjamin M Greenberg, Daniel G MacArthur
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes...
May 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29769070/serum-magnesium-levels-and-risk-of-coronary-artery-disease-mendelian-randomisation-study
#6
Susanna C Larsson, Stephen Burgess, Karl Michaëlsson
BACKGROUND: Observational studies have shown that serum magnesium levels are inversely associated with risk of cardiovascular disease, but whether this association is causal is unknown. We conducted a Mendelian randomisation study to investigate whether serum magnesium levels may be causally associated with coronary artery disease (CAD). METHODS: This Mendelian randomisation analysis is based on summary-level data from the CARDIoGRAMplusC4D consortium's 1000 Genomes-based genome-wide association meta-analysis of 48 studies with a total of 60,801 CAD cases and 123,504 non-cases...
May 17, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29765138/does-genomic-sequencing-early-in-the-diagnostic-trajectory-make-a-difference-a-follow-up-study-of-clinical-outcomes-and-cost-effectiveness
#7
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White
PURPOSE: To systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses. METHODS: We collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton whole-exome sequencing (WES). RESULTS: The median duration of follow-up following result disclosure was 473 days. Changes in clinical management due to diagnostic WES results led to a cost saving of AU$1,578 per quality-adjusted life year gained, without increased hospital service use...
May 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#8
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29750799/population-specific-genetic-modification-of-huntington-s-disease-in-venezuela
#9
Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we performed whole genome sequencing and GWA analysis of a Venezuelan HD cluster whose families were crucial for the original mapping of the HD gene defect. The Venezuelan HD subjects develop motor symptoms earlier than their European counterparts, implying the potential for population-specific modifiers...
May 11, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29748315/genetic-regulation-of-pcsk9-proprotein-convertase-subtilisin-kexin-type-9-plasma-levels-and-its-impact-on-atherosclerotic-vascular-disease-phenotypes
#10
Janne Pott, Valentin Schlegel, Andrej Teren, Katrin Horn, Holger Kirsten, Christina Bluecher, Juergen Kratzsch, Markus Loeffler, Joachim Thiery, Ralph Burkhardt, Markus Scholz
BACKGROUND: Inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is a novel strategy to treat hypercholesterolemia and reduce cardiovascular events. However, the potential role of circulating plasma PCSK9 concentrations as a diagnostic and predictive biomarker remains uncertain as of now. Here, we aimed to identify genetic variants associated with plasma PCSK9 and investigate possible causal effects on atherosclerotic vascular disease phenotypes. METHODS: We performed the first genome-wide association study of plasma PCSK9 levels in a cohort of suspected and confirmed coronary artery disease (LIFE-Heart; n=3290)...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29740579/the-role-of-genetics-in-advancing-precision-medicine-for-alzheimer-s-disease-a-narrative-review
#11
REVIEW
Yun Freudenberg-Hua, Wentian Li, Peter Davies
Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29740026/lack-of-genetic-support-for-shared-aetiology-of-coronary-artery-disease-and-late-onset-alzheimer-s-disease
#12
Christopher Grace, Robert Clarke, Anuj Goel, Martin Farrall, Hugh Watkins, Jemma C Hopewell
Epidemiological studies suggest a positive association between coronary artery disease (CAD) and late-onset Alzheimer's disease (LOAD). This large-scale genetic study brings together 'big data' resources to examine the causal impact of genetic determinants of CAD on risk of LOAD. A two-sample Mendelian randomization approach was adopted to estimate the causal effect of CAD on risk of LOAD using summary data from 60,801 CAD cases from CARDIoGRAMplusC4D and 17,008 LOAD cases from the IGAP Consortium. Additional analyses assessed the independent relevance of genetic associations at the APOE locus for both CAD and LOAD...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739994/assessing-causal-estimates-of-the-association-of-obesity-related-traits-with-coronary-artery-disease-using-a-mendelian-randomization-approach
#13
Xue Zhang, Wan-Qiang Lv, Bo Qiu, Li-Jun Zhang, Jian Qin, Feng-Juan Tang, Hai-Tao Wang, Hua-Jie Li, Ya-Rong Hao
Obesity-related traits have been associated with coronary artery disease (CAD) in observational studies, but these associations may be biased by confounding factors and reverse causation. In this study, we specifically conducted two-sample Mendelian randomization (MR) analyses to overcome these limitations and test the associations of obesity-related traits (other than body mass index (BMI)) (n = 322,154) with CAD (22,233 cases and 64,762 controls) by using summary-level data from previous studies. The methods utilized to estimate these associations included the inverse-variance weighted method, the weighted median method and MR-Egger regression...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29735716/reducing-resistance-allele-formation-in-crispr-gene-drive
#14
Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha Luthra, Nathan Oakes, Andrew G Clark, Philipp W Messer
CRISPR homing gene drives can convert heterozygous cells with one copy of the drive allele into homozygotes, thereby enabling super-Mendelian inheritance. Such a mechanism could be used, for example, to rapidly disseminate a genetic payload in a population, promising effective strategies for the control of vector-borne diseases. However, all CRISPR homing gene drives studied in insects thus far have produced significant quantities of resistance alleles that would limit their spread. In this study, we provide an experimental demonstration that multiplexing of guide RNAs can both significantly increase the drive conversion efficiency and reduce germline resistance rates of a CRISPR homing gene drive in Drosophila melanogaster We further show that an autosomal drive can achieve drive conversion in the male germline, with no subsequent formation of resistance alleles in embryos through paternal carryover of Cas9...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29731020/the-genetic-link-between-diabetes-and-atherosclerosis
#15
REVIEW
Stephanie Ross, Hertzel Gerstein, Guillaume Paré
Epidemiological studies have indicated that the risk of atherothrombotic coronary artery disease (CAD) is higher in patients with diabetes, but these results have not been consistently observed across clinical trials. To address this apparent discrepancy, we can apply the results of genome-wide association studies (GWAS) to provide a better understanding of the shared genetic architecture of diabetes and atherothrombotic CAD. For instance, a large GWAS has identified 16 novel loci that are associated with both diabetes and atherothrombotic CAD...
May 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29728394/cetp-cholesteryl-ester-transfer-protein-concentration-a-genome-wide-association-study-followed-by-mendelian-randomization-on-coronary-artery-disease
#16
Lisanne L Blauw, Ruifang Li-Gao, Raymond Noordam, Renée de Mutsert, Stella Trompet, Jimmy F P Berbée, Yanan Wang, Jan B van Klinken, Tim Christen, Diana van Heemst, Dennis O Mook-Kanamori, Frits R Rosendaal, J Wouter Jukema, Patrick C N Rensen, Ko Willems van Dijk
BACKGROUND: We aimed to identify independent genetic determinants of circulating CETP (cholesteryl ester transfer protein) to assess causal effects of variation in CETP concentration on circulating lipid concentrations and cardiovascular disease risk. METHODS: A genome-wide association discovery and replication study on serum CETP concentration were embedded in the NEO study (Netherlands Epidemiology of Obesity). Based on the independent identified variants, Mendelian randomization was conducted on serum lipids (NEO study) and coronary artery disease (CAD; CARDIoGRAMplusC4D consortium)...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29726898/enhancers-bridging-the-gap-between-gene-control-and-human-disease
#17
Jaret M Karnuta, Peter C Scacheri
Enhancers are a class of regulatory elements essential for precise spatiotemporal control of gene expression during development and in terminally differentiated cells. This review highlights signature features of enhancer elements as well as new advances that provide mechanistic insights into enhancer-mediated gene control in the context of three-dimensional chromatin. We detail the various ways in which noncoding mutations can instigate aberrant gene control and cause a variety of Mendelian disorders, common diseases, and cancer...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29721951/mapping-of-canine-models-of-inherited-retinal-diseases
#18
Keiko Miyadera
The gene/mutation discovery approaches for inherited retinal diseases (RDs) in the dog model have seen considerable development over the past 25 years. Initial attempts were focused on candidate genes, followed by genome-wide approaches including linkage analysis and DNA-chip-based genome-wide association study. Combined, there are as many as 32 mutations in 27 genes that have been associated with canine retinal diseases to date. More recently, next-generation sequencing has become one of the key methods of choice...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29719253/an-improved-method-for-modeling-voltage-gated-ion-channels-at-atomic-accuracy-applied-to-human-ca-v-channels
#19
Wilnelly Martinez-Ortiz, Timothy J Cardozo
Voltage-gated ion channels (VGICs) are associated with hundreds of human diseases. To date, 3D structural models of human VGICs have not been reported. We developed a 3D structural integrity metric to rank the accuracy of all VGIC structures deposited in the PDB. The metric revealed inaccuracies in structural models built from recent single-particle, non-crystalline cryo-electron microscopy maps and enabled the building of highly accurate homology models of human Cav channel α1 subunits at atomic resolution...
May 1, 2018: Cell Reports
https://www.readbyqxmd.com/read/29710745/prediction-of-microrna-and-gene-target-from-an-integrated-network-in-chronic-obstructive-pulmonary-disease-based-on-canonical-correlation-analysis
#20
Lin Hua, Hong Xia, Wenbin Xu, Weiying Zheng, Ping Zhou
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a complex disorder with a high mortality. The pathophysiology of COPD has not been characterized till date. OBJECTIVE: To identify COPD-related biomarkers by a bioinformatics analysis. METHODS: Here, we conducted the canonical correlation analysis to extract the potential COPD-related miRNAs and mRNAs based on the miRNA-mRNA dual expression profiling data. After identifying miRNAs and mRNAs related to COPD, we constructed an interaction network by integrating three validated miRNA-target sources...
April 17, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
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