keyword
MENU ▼
Read by QxMD icon Read
search

Mendelian disease

keyword
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#1
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28336558/remnant-cholesterol-elicits-arterial-wall-inflammation-and-a-multilevel-cellular-immune-response-in-humans
#2
Sophie J Bernelot Moens, Simone L Verweij, Johan G Schnitzler, Lotte C A Stiekema, Merijn Bos, Anne Langsted, Carlijn Kuijk, Siroon Bekkering, Carlijn Voermans, Hein J Verberne, Børge G Nordestgaard, Erik S G Stroes, Jeffrey Kroon
OBJECTIVE: Mendelian randomization studies revealed a causal role for remnant cholesterol in cardiovascular disease. Remnant particles accumulate in the arterial wall, potentially propagating local and systemic inflammation. We evaluated the impact of remnant cholesterol on arterial wall inflammation, circulating monocytes, and bone marrow in patients with familial dysbetalipoproteinemia (FD). APPROACH AND RESULTS: Arterial wall inflammation and bone marrow activity were measured using (18)F-FDG PET/CT...
March 23, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28335750/novel-compound-heterozygous-mutations-in-the-otof-gene-identified-by-whole-exome-sequencing-in-auditory-neuropathy-spectrum-disorder
#3
Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang
BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood...
March 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28334860/genetic-regulation-of-gene-expression-in-the-epileptic-human-hippocampus
#4
Nasir Mirza, Richard Appleton, Sasha Burn, Daniel du Plessis, Roderick Duncan, Jibril Osman Farah, Bjarke Feenstra, Anders Hviid, Vivek Josan, Rajiv Mohanraj, Arif Shukralla, Graeme J Sills, Anthony G Marson, Munir Pirmohamed
Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocampal tissue to include not only normal (n = 22) but also epileptic (n = 22) samples. We demonstrate that disease-associated variants from an epilepsy GWAS meta-analysis and a febrile seizures (FS) GWAS are significantly more enriched with epilepsy-eQTLs than with normal hippocampal eQTLs from two larger independent published studies...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334273/gwas-summary-based-pathway-analysis-correcting-for-the-genetic-confounding-impact-of-environmental-exposures
#5
Qianrui Fan, Feng Zhang, Wenyu Wang, Jiawen Xu, Jingcan Hao, Awen He, Yan Wen, Ping Li, Xiao Liang, Yanan Du, Li Liu, Cuiyan Wu, Sen Wang, Xi Wang, Yujie Ning, Xiong Guo
Genome-wide association study (GWAS)-based pathway association analysis is a powerful approach for the genetic studies of human complex diseases. However, the genetic confounding effects of environment exposure-related genes can decrease the accuracy of GWAS-based pathway association analysis of target diseases. In this study, we developed a pathway association analysis approach, named Mendelian randomization-based pathway enrichment analysis (MRPEA), which was capable of correcting the genetic confounding effects of environmental exposures, using the GWAS summary data of environmental exposures...
March 8, 2017: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/28329241/lipoprotein-a-the-revenant
#6
Baris Gencer, Florian Kronenberg, Erik S Stroes, François Mach
In the mid-1990s, the days of lipoprotein(a) [Lp(a)] were numbered and many people would not have placed a bet on this lipid particle making it to the next century. However, genetic studies brought Lp(a) back to the front-stage after a Mendelian randomization approach used for the first time provided strong support for a causal role of high Lp(a) concentrations in cardiovascular disease and later also for aortic valve stenosis. This encouraged the use of therapeutic interventions to lower Lp(a) as well numerous drug developments, although these approaches mainly targeted LDL cholesterol, while the Lp(a)-lowering effect was only a 'side-effect'...
February 17, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28327206/lessons-learned-from-additional-research-analyses-of-unsolved-clinical-exome-cases
#7
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R Lalani, Christian P Schaaf, Michael F Wangler, Carlos A Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H Graham, John W Belmont, Fernando Scaglia, Jordan S Orange, Shalini N Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Fan Xia, Arthur L Beaudet, Eric Boerwinkle, Christine M Eng, Sharon E Plon, V Reid Sutton, Richard A Gibbs, Jennifer E Posey, Yaping Yang, James R Lupski
BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease...
March 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28325067/deep-genealogical-analysis-of-a-large-cohort-of-participants-in-the-cartagene-project-quebec-canada
#8
Marc Tremblay, Gabrielle Rouleau
BACKGROUND: Genealogical analysis helps to better understand the genetic structure of populations. The population of Quebec (Canada) often serves as a model for this type of analysis, having one of the world's most complete genealogical databases. AIM: The main objective of this study was to reconstruct, analyse and compare the ascending genealogies of participants to CARTaGENE, a project that aims at building a database on various aspects of public health. SUBJECTS AND METHODS: In total, 5110 genealogies from four Quebec regions were reconstructed...
March 21, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28306536/molecular-defects-identified-by-whole-exome-sequencing-in-a-child-with-atypical-mucopolysaccharidosis-iiib
#9
Qingwen Zeng, Yanjie Fan, Lili Wang, Zhuo Huang, Xuefan Gu, Yongguo Yu
BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy. Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice. This misdiagnosis could be avoided by using next-generation sequencing (NGS) techniques, which have been shown to have superior performance for detecting mutations underlying rare inherited disorders in previous studies...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28303212/periodontitis-and-systemic-disease-association-or-causality
#10
REVIEW
Lewis Winning, Gerard J Linden
PURPOSE OF REVIEW: The aim was to assess recent evidence that diabetes, metabolic syndrome (MetS) and obesity impact the progression of periodontitis. RECENT FINDINGS: Electronic searches using Embase, Medline, and Web of Science were carried out for epidemiological studies on humans, published between 2014 and 2016. A small number of prospective studies and systematic reviews were identified that in general provide further support for the hypothesis that diabetes, metabolic syndrome and obesity can adversely affect the periodontal condition...
2017: Current Oral Health Reports
https://www.readbyqxmd.com/read/28298470/genetically-driven-hyperglycemia-increases-risk-of-coronary-artery-disease-separately-from-type-2-diabetes
#11
Jordi Merino, Aaron Leong, Daniel C Posner, Bianca Porneala, Lluís Masana, Josée Dupuis, Jose C Florez
OBJECTIVE: This study tested the hypothesis that genetically raised hyperglycemia increases coronary artery disease (CAD) risk separately from the risk conferred by type 2 diabetes as a whole. RESEARCH DESIGN AND METHODS: We conducted a Mendelian randomization (MR) analysis using summary-level statistics from the largest published meta-analyses of genome-wide association studies (GWAS) for fasting glucose (FG) (n = 133,010 participants free of diabetes) and CAD (n = 63,746 case subjects and 130,681 control subjects) of predominantly European ancestry...
March 15, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28282485/contribution-of-mutations-in-known-mendelian-glaucoma-genes-to-advanced-early-onset-primary-open-angle-glaucoma
#12
Tiger Zhou, Emmanuelle Souzeau, Owen M Siggs, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Shiwani Sharma, Kathryn P Burdon, Jamie E Craig
Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. Methods: The cases exhibited advanced POAG with young age of diagnosis. Cases and examined local controls were subjected to whole-exome sequencing...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28272539/choices-for-return-of-primary-and-secondary-genomic-research-results-of-790-members-of-families-with-mendelian-disease
#13
Katie Fiallos, Carolyn Applegate, Debra Jh Mathews, Juli Bollinger, Amanda L Bergner, Cynthia A James
Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28253278/rules-for-resolving-mendelian-inconsistencies-in-nuclear-pedigrees-typed-for-two-allele-markers
#14
Sajjad Ahmad Khan, Sadaf Manzoor, Alamgir, Amjad Ali, Dost Muhammad Khan, Umair Khalil
Gene-mapping studies, regularly, rely on examination for Mendelian transmission of marker alleles in a pedigree as a way of screening for genotyping errors and mutations. For analysis of family data sets, it is, usually, necessary to resolve or remove the genotyping errors prior to consideration. At the Center of Inherited Disease Research (CIDR), to deal with their large-scale data flow, they formalized their data cleaning approach in a set of rules based on PedCheck output. We scrutinize via carefully designed simulations that how well CIDR's data cleaning rules work in practice...
2017: PloS One
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#15
REVIEW
Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28250574/interleukin-6-trans-signaling-and-ischemic-vascular-disease-the-important-role-of-soluble-gp130
#16
REVIEW
Mario Luca Morieri, Angelina Passaro, Giovanni Zuliani
Inflammation plays a major role in the onset of cardiovascular disease (CVD). Interleukine-6 (IL-6) is a multifunctional cytokine involved both in the beneficial acute inflammatory response and in the detrimental chronic low-grade systemic inflammation. Large genetic human studies, using Mendelian randomization approaches, have clearly showed that IL-6 pathway is causally involved in the onset of myocardial infarction. At the same time, IL-6 pathway is divided into two arms: classic signaling (effective in hepatocytes and leukocytes) and trans-signaling (with ubiquitous activity)...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28250266/clinical-perspectives-of-genetic-analyses-on-dyslipidemia-and-coronary-artery-disease
#17
Hayato Tada, Masa-Aki Kawashiri, Masakazu Yamagishi
We have learned that low-density lipoprotein (LDL) cholesterol is the cause of atherosclerosis from various aspects, including a single case with familial hypercholesterolemia, other cases with different types of Mendelian dyslipidemias, large-scale randomized controlled trials using LDL cholesterol lowering therapies, and Mendelian randomization studies using common as well as rare variants associated with LDL cholesterol levels. There is no doubt that determinations of genotypes in lipid-associated genes have contributed not only to the genetic diagnosis for Mendelian dyslipidemias but also to the discoveries of novel therapeutic targets...
February 28, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28244183/nonketotic-hyperglycinemia-functional-assessment-of-missense-variants-in-gldc-to-understand-phenotypes-of-the-disease
#18
Irene Bravo-Alonso, Rosa Navarrete, Laura Arribas-Carreira, Almudena Perona, David Abia, María Luz Couce, Angels García-Cazorla, Ana Morais, Rosario Domingo, María Antonia Ramos, Michael A Swanson, Johan L K Van Hove, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo
The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific disease. This is the case for Nonketotic Hyperglycinemia (NKH), a Mendelian disorder causing seizures in neonates and early-infants, primarily due to mutations in the GLDC gene. However, understanding the impact of missense-variants identified in this gene is a major challenge for the application of genomics into clinical practice. Herein, a comprehensive functional and structural analysis of 19 GLDC missense-variants identified in a cohort of 26 NKH patients was performed...
February 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/28244148/detection-of-inherited-chromosomally-integrated-hhv-6-cihhv-6-in-a-marker-chromosome
#19
Diana Campioni, Valentina Gentili, Francesco Cavazzini, Daria Bortolotti, Elisabeth P Nacheva, Antonio Cuneo, Dario Di Luca, Roberta Rizzo
OBJECTIVES: Inherited chromosomally integrated human herpesvirus 6 (ciHHV-6) is characterized by the complete HHV-6 genome integration into the host germ line genome and is vertically transmitted with a Mendelian inheritance. By now, the only relationship between ciHHV-6 and diseases seems to be with angina pectoris. METHODS: We report a case of an 82 years old male diagnosed with Diffuse Large B-cell Lymphoma (DLBCL) on October 2014. To substantiate the suspicion of ciHHV-6, we analysed peripheral blood mononuclear cells, bone marrow biopsy and pleural effusion derived mesothelial cells with PCR, RT-PCR and FISH...
February 28, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28241850/accurate-and-equitable-medical-genomic-analysis-requires-an-understanding-of-demography-and-its-influence-on-sample-size-and-ratio
#20
Michael D Kessler, Timothy D O'Connor
In a recent study, Petrovski and Goldstein reported that (non-Finnish) Europeans have significantly fewer nonsynonymous singletons in Online Mendelian Inheritance in Man (OMIM) disease genes compared with Africans, Latinos, South Asians, East Asians, and other unassigned non-Europeans. We use simulations of Exome Aggregation Consortium (ExAC) data to show that sample size and ratio interact to influence the number of these singletons identified in a cohort. These interactions are different across ancestries and can lead to the same number of identified singletons in both Europeans and non-Europeans without an equal number of samples...
February 27, 2017: Genome Biology
keyword
keyword
119844
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"