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Mendelian disease

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https://www.readbyqxmd.com/read/29353277/a-critical-review-of-the-consensus-statement-from-the-european-atherosclerosis-society-consensus-panel-2017
#1
Harumi Okuyama, Tomohito Hamazaki, Rokuro Hama, Yoichi Ogushi, Tetsuyuki Kobayashi, Naoki Ohara, Hajime Uchino
BACKGROUND: The Consensus Statement from the European Atherosclerosis Society (EAS) Consensus Panel 2017 concludes on the basis of 3 different types of clinical studies that low-density lipoprotein (LDL) causes atherosclerotic cardiovascular disease (ASCVD). In Mendelian randomization studies, rare genetic mutations affecting LDL receptor function were found to cause higher or lower LDL-C levels, which are associated with correspondingly altered ASCVD risk. In prospective cohort studies and randomized controlled trials (RCTs) of statins, a remarkably consistent log-linear association was demonstrated between the absolute magnitude of LDL-C exposure and ASCVD risk...
January 19, 2018: Pharmacology
https://www.readbyqxmd.com/read/29351777/are-minor-alleles-more-likely-to-be-risk-alleles
#2
Takashi Kido, Weronika Sikora-Wohlfeld, Minae Kawashima, Shinichi Kikuchi, Naoyuki Kamatani, Anil Patwardhan, Richard Chen, Marina Sirota, Keiichi Kodama, Dexter Hadley, Atul J Butte
BACKGROUND: Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian diseases. Therefore, an allele that was previously advantageous or neutral may later become harmful, making it a risk allele. METHODS: Using data in the NHGRI-EBI Catalog and the VARIMED database, we investigated whether (1) GWASs more easily detect risk alleles and (2) facilitate evolutionary insights by comparing risk allele frequencies of different diseases...
January 19, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29351742/herv-w-group-evolutionary-history-in-non-human-primates-characterization-of-erv-w-orthologs-in-catarrhini-and-related-erv-groups-in-platyrrhini
#3
Nicole Grandi, Marta Cadeddu, Jonas Blomberg, Jens Mayer, Enzo Tramontano
BACKGROUND: The genomes of all vertebrates harbor remnants of ancient retroviral infections, having affected the germ line cells during the last 100 million years. These sequences, named Endogenous Retroviruses (ERVs), have been transmitted to the offspring in a Mendelian way, being relatively stable components of the host genome even long after their exogenous counterparts went extinct. Among human ERVs (HERVs), the HERV-W group is of particular interest for our physiology and pathology...
January 19, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29348295/tuning%C3%A2-crispr-cas9-gene-drives-in-saccharomyces-cerevisiae
#4
Emily Roggenkamp, Rachael M Giersch, Madison N Schrock, Emily Turnquist, Megan Halloran, Gregory C Finnigan
Control of biological populations is an ongoing challenge in many fields including agriculture, biodiversity, ecological preservation, pest control, and the spread of disease. In some cases, such as insects that harbor human pathogens (e.g. malaria), elimination or reduction of a small number of species would have a dramatic impact across the globe. Given the recent discovery and development of the CRISPR/Cas9 gene editing technology, a unique arrangement of this system-a nuclease based "gene drive"-allows for the Super-Mendelian spread and forced propagation of a genetic element through a population...
January 18, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29344903/nuclear-genes-involved-in-mitochondrial-diseases-caused-by-instability-of-mitochondrial-dna
#5
REVIEW
Joanna Rusecka, Magdalena Kaliszewska, Ewa Bartnik, Katarzyna Tońska
Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDNA) genomes. Most of the proteins involved in respiratory chain function are nuclear encoded, although 13 subunits of respiratory chain complexes (together with 2 rRNAs and 22 tRNAs necessary for their translation) encoded by mtDNA are essential for cell function...
January 17, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#6
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339098/vitamin-d-and-nonalcoholic-fatty-liver-disease-bi-directional-mendelian-randomization-analysis
#7
Ningjian Wang, Chi Chen, Li Zhao, Yi Chen, Bing Han, Fangzhen Xia, Jing Cheng, Qin Li, Yingli Lu
BACKGROUND: Vitamin D deficiency is associated with nonalcoholic fatty liver disease (NAFLD) in many cross-sectional studies. However, the causality between them has not been established. We used bi-directional mendelian randomization (MR) analysis to explore the causal relationship between 25-hydroxyvitamin D [25(OH)D] and NAFLD. METHODS: 9182 participants were included from a survey in East China from 2014 to 2016. We calculated weighted genetic risk scores (GRS) for 25(OH)D concentration and NAFLD based on 25(OH)D-related and NAFLD-related single nucleotide polymorphisms...
January 9, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29335400/causal-associations-between-risk-factors-and-common-diseases-inferred-from-gwas-summary-data
#8
Zhihong Zhu, Zhili Zheng, Futao Zhang, Yang Wu, Maciej Trzaskowski, Robert Maier, Matthew R Robinson, John J McGrath, Peter M Visscher, Naomi R Wray, Jian Yang
Health risk factors such as body mass index (BMI) and serum cholesterol are associated with many common diseases. It often remains unclear whether the risk factors are cause or consequence of disease, or whether the associations are the result of confounding. We develop and apply a method (called GSMR) that performs a multi-SNP Mendelian randomization analysis using summary-level data from genome-wide association studies to test the causal associations of BMI, waist-to-hip ratio, serum cholesterols, blood pressures, height, and years of schooling (EduYears) with common diseases (sample sizes of up to 405,072)...
January 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#9
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29325613/essential-tremor
#10
Lorraine N Clark, Elan D Louis
Essential tremor (ET) is one of the most common neurologic disorders, and genetic factors are thought to contribute significantly to disease etiology. There has been a relative lack of progress in understanding the genetic etiology of ET. This could reflect a number of factors, including the presence of substantial phenotypic and genotypic heterogeneity. Thus, a meticulous approach to phenotyping is important for genetic research. A lack of standardized phenotyping across studies and patient centers likely has contributed to the relative lack of success of genomewide association studies in ET...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325607/genetic-and-genomic-testing-for-neurologic-disease-in-clinical-practice
#11
Brent L Fogel
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of genetic origin. In the search for mutations causing Mendelian disorders, advances in genetic testing methodology have propelled modern neurologic practice beyond single-gene testing into the realm of genomic medicine, where routine evaluations encompass hundreds or thousands of genes, or even the entire exome, representing all protein-coding genes in the genome...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325558/systematic-target-function-annotation-of-human-transcription-factors
#12
Yong Fuga Li, Russ B Altman
BACKGROUND: Transcription factors (TFs), the key players in transcriptional regulation, have attracted great experimental attention, yet the functions of most human TFs remain poorly understood. Recent capabilities in genome-wide protein binding profiling have stimulated systematic studies of the hierarchical organization of human gene regulatory network and DNA-binding specificity of TFs, shedding light on combinatorial gene regulation. We show here that these data also enable a systematic annotation of the biological functions and functional diversity of TFs...
January 10, 2018: BMC Biology
https://www.readbyqxmd.com/read/29325019/deep-molecular-phenotypes-link-complex-disorders-and-physiological-insult-to-cpg-methylation
#13
Shaza B Zaghlool, Dennis O Mook-Kanamori, Sara Kader, Nisha Stephan, Anna Halama, Rudolf Engelke, Hina Sarwath, Eman K Al-Dous, Yasmin A Mohamoud, Werner Roemisch-Margl, Jerzy Adamski, Gabi Kastenmüller, Nele Friedrich, Alessia Visconti, Pei-Chien Tsai, Tim Spector, Jordana Bell, Mario Falchi, Annika Wahl, Melanie Waldenberger, Annette Peters, Christian Gieger, Maija Pezer, Gordan Lauc, Johannes Graumann, Joel A Malek, Karsten Suhre
Epigenetic regulation of cellular function provides a mechanism for rapid organismal adaptation to changes in health, lifestyle, and environment. Associations of cytosine-guanine di-nucleotide (CpG) methylation with clinical endpoints that overlap with metabolic phenotypes suggest a regulatory role for these CpG sites in the body's response to disease or environmental stress. We previously identified 20 CpG sites in an epigenome-wide association study (EWAS) with metabolomics that were also associated in recent EWASs with diabetes-, obesity-, and smoking-related endpoints...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29316259/fatal-outcome-after-reactivation-of-inherited-chromosomally-integrated-hhv-6a-icihhv-6a-transmitted-through-liver-transplantation
#14
P Bonnafous, J Marlet, D Bouvet, E Salamé, A-C Tellier, S Guyetant, A Goudeau, H Agut, A Gautheret-Dejean, C Gaudy-Graffin
HHV-6A and HHV-6B are found as inherited and chromosomally integrated forms (iciHHV-6A and -6B) into all germinal and somatic cells and vertically transmitted in a Mendelian manner in about 1% of the population. They were occasionally shown to be horizontally transmitted through hematopoietic stem cell transplantation. Here, we present a clinical case of horizontal transmission of iciHHV-6A from donor to recipient through liver transplantation. Molecular analysis performed on three viral genes (7.2 kb) in the recipient and donor samples supports transmission of iciHHV-6A from the graft...
January 9, 2018: American Journal of Transplantation
https://www.readbyqxmd.com/read/29291004/whole-exome-sequencing-identifies-novel-mutation-in-eight-chinese-children-with-isolated-tetralogy-of-fallot
#15
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Yun-Yun Qin, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing. Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29288112/the-genetics-of-parkinson-disease
#16
REVIEW
Hao Deng, Peng Wang, Joseph Jankovic
About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association studies. Investigating the mutated protein products has uncovered potential pathogenic pathways that provide insights into mechanisms of neurodegeneration in familial and sporadic PD...
December 26, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29282328/circulating-insulin-like-growth-factors-and-alzheimer-disease-a-mendelian-randomization-study
#17
Dylan M Williams, Ida K Karlsson, Nancy L Pedersen, Sara Hägg
OBJECTIVE: To examine whether genetically predicted variation in circulating insulin-like growth factor 1 (IGF1) or its binding protein, IGFBP3, are associated with risk of Alzheimer disease (AD), using a mendelian randomization study design. METHODS: We first examined disease risk by genotypes of 9 insulin-like growth factor (IGF)-related single nucleotide polymorphisms (SNPs) using published summary genome-wide association statistics from the International Genomics of Alzheimer's Project (IGAP; n = 17,008 cases; 37,154 controls)...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29280273/causal-relationship-of-hepatic-fat-with-liver-damage-and-insulin-resistance-in-nonalcoholic-fatty-liver
#18
P Dongiovanni, S Stender, A Pietrelli, R M Mancina, A Cespiati, S Petta, S Pelusi, P Pingitore, S Badiali, M Maggioni, V Mannisto, S Grimaudo, R M Pipitone, J Pihlajamaki, A Craxi, M Taube, L M S Carlsson, S Fargion, S Romeo, J Kozlitina, L Valenti
BACKGROUND AND AIMS: Nonalcoholic fatty liver disease is epidemiologically associated with hepatic and metabolic disorders. The aim of this study was to examine whether hepatic fat accumulation has a causal role in determining liver damage and insulin resistance. METHODS: We performed a Mendelian randomization analysis using risk alleles in PNPLA3, TM6SF2, GCKR and MBOAT7, and a polygenic risk score for hepatic fat, as instruments. We evaluated complementary cohorts of at-risk individuals and individuals from the general population: 1515 from the liver biopsy cohort (LBC), 3329 from the Swedish Obese Subjects Study (SOS) and 4570 from the population-based Dallas Heart Study (DHS)...
December 27, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29279458/whole-genome-sequencing-revealed-armadillo-repeat-containing-5-armc5-mutation-in-a-chinese-family-with-acth-independent-macronodular-adrenal-hyperplasia
#19
Qian Zhang, Liang Cui, Jiang-Ping Gao, Wen-Hua Yan, Nan Jin, Kang Chen, Li Zang, Jin Du, Xian-Ling Wang, Qing-Hua Guo, Guo-Qing Yang, Li-Juan Yang, Jian-Ming Ba, Wei-Jun Gu, Zhao-Hui Lv, Jing-Tao Dou, Yi-Ming Mu, Ju-Ming Lu
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes...
December 27, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29276006/wnt-signaling-perturbations-underlie-the-genetic-heterogeneity-of-robinow-syndrome
#20
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia M B Carvalho
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved...
January 4, 2018: American Journal of Human Genetics
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