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Mendelian disease

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https://www.readbyqxmd.com/read/28216230/activation-of-a-cryptic-splice-site-in-the-mitochondrial-elongation-factor-gfm1-causes-combined-oxphos-deficiency
#1
Mariella T Simon, Bobby G Ng, Marisa W Friederich, Raymond Y Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J Buckingham, Richard Chang, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, Johan L K Van Hove, Hudson H Freeze, Jose E Abdenur
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). One of the mutations had been reported previously while the second, novel variant was found deep in intron 6, activating a cryptic splice site...
February 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28214518/potentiating-slc-transporter-activity-emerging-drug-discovery-opportunities
#2
REVIEW
Marie-Laure Rives, Jonathan A Javitch, Alan D Wickenden
Maintaining the integrity of cellular membranes is critical to protecting metabolic activities and genetic information from the environment. Regulation of transport across membranes of essential chemicals, including water, nutrients, hormones and many drugs, is therefore key to cellular homeostasis and physiological processes. The two main transporter superfamilies are ATP-binding cassette (ABC) transporters that primarily function as efflux transporters, and the solute carrier (SLC) transporters. SLC transporters encompass 52 gene families with almost 400 different human transporter genes...
February 15, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28213161/a-genomic-view-of-short-tandem-repeats
#3
REVIEW
Melissa Gymrek
Short tandem repeats (STRs) are some of the fastest mutating loci in the genome. Tools for accurately profiling STRs from high-throughput sequencing data have enabled genome-wide interrogation of more than a million STRs across hundreds of individuals. These catalogs have revealed that STRs are highly multiallelic and may contribute more de novo mutations than any other variant class. Recent studies have leveraged these catalogs to show that STRs play a widespread role in regulating gene expression and other molecular phenotypes...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28212870/the-174-g-c-interleukin-6-gene-polymorphism-is-associated-with-angiographic-progression-of-coronary-artery-disease-in-a-4-year-period
#4
Konstantinos Toutouzas, Dimitrios Klettas, Nikolaos Anousakis-Vlachochristou, Konstantinos Melidis, Zeta Azilazian, Maria Asimomiti, Antonios Karanasos, Anastasios Spanos, Eleftherios Tsiamis, Petros Nihoyannopoulos, Dimitris Tousoulis
BACKGROUND: Inflammation is the key process underlying the clinical course of coronary artery disease (CAD). C-reactive protein (CRP) and interleukin-6 (IL-6) participate in the pathophysiology and act as biomarkers. We sought to examine whether known single nucleotide polymorphisms (SNPs) impact the progression of CAD, reflecting higher inflammatory activity. METHODS: We retrospectively evaluated coronary angiographies of patients with already established CAD who were re-investigated for stable/unstable angina after a time interval >12 months...
February 14, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28210975/alcohol-and-cardiovascular-disease-how-much-is-too-much
#5
REVIEW
Augustin Toma, Guillaume Paré, Darryl P Leong
PURPOSE OF REVIEW: Previous research suggests that low-moderate alcohol consumption may have cardioprotective effects, while heavy or binge-pattern drinking is harmful. New evidence and research methodology may inform safe thresholds of alcohol use. This review examines recent evidence regarding alcohol's effect on cardiovascular disease, with a special consideration of pattern, drink type, and total quantity. RECENT FINDINGS: New epidemiologic research confirms the potential harmful cardiovascular effects of heavy episodic alcohol use and does not support the previous observation that low-moderate alcohol use protects against stroke...
March 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#6
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28199346/revertant-mosaicism-for-family-mutations-is-not-observed-in-brca1-2-phenocopies
#7
Jacopo Azzollini, Chiara Pesenti, Luca Ferrari, Laura Fontana, Mariarosaria Calvello, Bernard Peissel, Giorgio Portera, Silvia Tabano, Maria Luisa Carcangiu, Paola Riva, Monica Miozzo, Siranoush Manoukian
In BRCA1/2 families, early-onset breast cancer (BrCa) cases may be also observed among non-carrier relatives. These women are considered phenocopies and raise difficult counselling issues concerning the selection of the index case and the residual risks estimate in negative family members. Few studies investigated the presence of potential genetic susceptibility factors in phenocopies, mainly focussing on BrCa-associated single-nucleotide polymorphisms. We hypothesized that, as for other Mendelian diseases, a revertant somatic mosaicism, resulting from spontaneous correction of a pathogenic mutation, might occur also in BRCA pedigrees...
2017: PloS One
https://www.readbyqxmd.com/read/28198508/genetic-tests-for-low-and-middle-income-countries-a-literature-review
#8
P E Maltese, E Poplavskaia, I Malyutkina, F Sirocco, A Bonizzato, N Capodicasa, S Y Nicoulina, A Salmina, N Aksutina, M Dundar, T Beccari, S Cecchin, M Bertelli
The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28196256/genetic-association-of-waist-to-hip-ratio-with-cardiometabolic-traits-type-2-diabetes-and-coronary-heart-disease
#9
Connor A Emdin, Amit V Khera, Pradeep Natarajan, Derek Klarin, Seyedeh M Zekavat, Allan J Hsiao, Sekar Kathiresan
Importance: In observational studies, abdominal adiposity has been associated with type 2 diabetes and coronary heart disease (CHD). Whether these associations represent causal relationships remains uncertain. Objective: To test the association of a polygenic risk score for waist-to-hip ratio (WHR) adjusted for body mass index (BMI), a measure of abdominal adiposity, with type 2 diabetes and CHD through the potential intermediates of blood lipids, blood pressure, and glycemic phenotypes...
February 14, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28195141/a-mendelian-randomization-study-of-the-effect-of-calcium-on-coronary-artery-disease-myocardial-infarction-and-their-risk-factors
#10
Lin Xu, Shi Lin Lin, C Mary Schooling
Meta-analyses of randomized controlled trials (RCTs) suggest calcium could have adverse effects on cardiovascular disease, although these findings are controversial. To clarify, we assessed whether people with genetically higher calcium had a higher risk of coronary artery disease (CAD), myocardial infarction (MI) and their risk factors. We used a two-sample Mendelian randomization study. We identified genetic variants (single nucleotide polymorphisms (SNPs)) that independently contributed to serum calcium at genome-wide significance which we applied to large extensively genotyped studies of CAD, MI, diabetes, lipids, glycaemic traits and adiposity to obtain unconfounded estimates, with body mass index (BMI) as a control outcome...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28191685/gene-based-segregation-method-for-identifying-rare-variants-in-family-based-sequencing-studies
#11
Dandi Qiao, Christoph Lange, Nan M Laird, Sungho Won, Craig P Hersh, Jarrett Morrow, Brian D Hobbs, Sharon M Lutz, Ingo Ruczinski, Terri H Beaty, Edwin K Silverman, Michael H Cho
Whole-exome sequencing using family data has identified rare coding variants in Mendelian diseases or complex diseases with Mendelian subtypes, using filters based on variant novelty, functionality, and segregation with the phenotype within families. However, formal statistical approaches are limited. We propose a gene-based segregation test (GESE) that quantifies the uncertainty of the filtering approach. It is constructed using the probability of segregation events under the null hypothesis of Mendelian transmission...
February 13, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28191457/the-copper-transport-associated-protein-ctr4-can-form-prion-like-epigenetic-determinants-in-schizosaccharomyces-pombe
#12
Theodora Sideri, Yoko Yashiroda, David A Ellis, María Rodríguez-López, Minoru Yoshida, Mick F Tuite, Jürg Bähler
Prions are protein-based infectious entities associated with fatal brain diseases in animals, but also modify a range of host-cell phenotypes in the budding yeast, Saccharomyces cerevisiae. Many questions remain about the evolution and biology of prions. Although several functionally distinct prion-forming proteins exist in S. cerevisiae, [HET-s] of Podospora anserina is the only other known fungal prion. Here we investigated prion-like, protein-based epigenetic transmission in the fission yeast Schizosaccharomyces pombe...
January 2017: Microbial Cell
https://www.readbyqxmd.com/read/28173748/susceptibility-to-type-2-diabetes-may-be-modulated-by-haplotypes-in-g6pc2-a-target-of-positive-selection
#13
Nasser M Al-Daghri, Chiara Pontremoli, Rachele Cagliani, Diego Forni, Majed S Alokail, Omar S Al-Attas, Shaun Sabico, Stefania Riva, Mario Clerici, Manuela Sironi
BACKGROUND: The endoplasmic reticulum enzyme glucose-6-phosphatase catalyzes the common terminal reaction in the gluconeogenic/glycogenolytic pathways and plays a central role in glucose homeostasis. In most mammals, different G6PC subunits are encoded by three paralogous genes (G6PC, G6PC2, and G6PC3). Mutations in G6PC and G6PC3 are responsible for human mendelian diseases, whereas variants in G6PC2 are associated with fasting glucose (FG) levels. RESULTS: We analyzed the evolutionary history of G6Pase genes...
February 7, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28157721/complexity-of-mechanisms-among-human-proprotein-convertase-subtilisin-kexin-type-9-variants
#14
Jacqueline S Dron, Robert A Hegele
PURPOSE OF REVIEW: There are many reports of human variants in proprotein convertase subtilisin-kexin type 9 (PCSK9) that are either gain-of-function (GOF) or loss-of-function (LOF), with downstream effects on LDL cholesterol and cardiovascular disease (CVD) risk. However, data on particular mechanisms have only been minimally curated. RECENT FINDINGS: GOF variants are individually ultrarare, affect all domains of the protein, act to reduce LDL receptor expression through several mechanisms, are a minor cause of familial hypercholesterolemia, have been reported mainly within families, have variable LDL cholesterol-raising effects, and are associated with increased CVD risk mainly through observational studies in families and small cohorts...
February 2, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28157586/the-current-state-of-clinical-interpretation-of-sequence-variants
#15
REVIEW
Derick C Hoskinson, Adrian M Dubuc, Heather Mason-Suares
Accurate and consistent variant classification is required for Precision Medicine. But clinical variant classification remains in its infancy. While recent guidelines put forth jointly by the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) for the classification of Mendelian variants has advanced the field, the degree of subjectivity allowed by these guidelines can still lead to inconsistent classification across clinical molecular genetic laboratories. In addition, there are currently no such guidelines for somatic cancer variants, only published institutional practices...
January 31, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#16
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28151921/a-non-targeted-liquid-chromatographic-mass-spectrometric-metabolomics-approach-for-association-with-coronary-artery-disease-an-identification-of-biomarkers-for-depiction-of-underlying-biological-mechanisms
#17
Xian-Zhao Zhang, Su-Xia Zheng, Ya-Min Hou
BACKGROUND We performed non-targeted metabolomics analysis using liquid chromatography-mass spectrometry coupled technique to explore the biological mechanism of coronary artery disease (CAD) events for improved prediction. MATERIAL AND METHODS We studied the association of CAD events in 4092 individuals and observed the replication of sphingomyelin (28:1), lysophosphatidylcholine (18:2), lysophosphatidylcholine (18:1), and monoglyceride (18:2), which were independent of main CAD risk factors. RESULTS We found that these 4 metabolites were responsible for traditional risk factors and also contributed to the modifications related to reclassification and discrimination...
February 2, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28148242/exome-qtl-seq-maps-monogenic-locus-and-qtls-in-barley
#18
Hiroshi Hisano, Kazuki Sakamoto, Hiroki Takagi, Ryohei Terauchi, Kazuhiro Sato
BACKGROUND: QTL-seq, in combination with bulked segregant analysis and next-generation sequencing (NGS), is used to identify loci in small plant genomes, but is technically challenging to perform in species with large genomes, such as barley. A combination of exome sequencing and QTL-seq (exome QTL-seq) was used to map the mono-factorial Mendelian locus black lemma and pericarp (Blp) and QTLs for resistance to net blotch disease, a common disease of barley caused by the fungus Pyrenophora teres, which segregated in a population of 100 doubled haploid barley lines...
February 2, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28138843/pedigree-defined-haplotypes-and-their-applications-to-genetic-studies
#19
Chester A Alper, Charles E Larsen
A haplotype is a string of nucleotides or alleles at nearby loci on one chromosome, usually inherited as a unit. Within the major histocompatibility complex (MHC) region on human chromosome 6p, independent population studies of multiple families have identified conserved extended haplotypes (CEHs) that segregate as long stretches (≥1 megabase) of essentially identical DNA sequence at relatively high (≥0.5 %) population frequency ("genetic fixity"). CEHs were first identified through segregation analysis in the early 1980s...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28132577/unsolved-challenges-in-pediatric-whole-exome-sequencing-a-literature-analysis
#20
Gabrielle Bertier, Karine Sénécal, Pascal Borry, Danya F Vears
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature. In this paper, we focus on recent publications related to the use of WES in the pediatric context and analyze the most prominent challenges raised by technology users...
January 28, 2017: Critical Reviews in Clinical Laboratory Sciences
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