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https://www.readbyqxmd.com/read/28235201/impacts-of-neanderthal-introgressed-sequences-on-the-landscape-of-human-gene-expression
#1
Rajiv C McCoy, Jon Wakefield, Joshua M Akey
Regulatory variation influencing gene expression is a key contributor to phenotypic diversity, both within and between species. Unfortunately, RNA degrades too rapidly to be recovered from fossil remains, limiting functional genomic insights about our extinct hominin relatives. Many Neanderthal sequences survive in modern humans due to ancient hybridization, providing an opportunity to assess their contributions to transcriptional variation and to test hypotheses about regulatory evolution. We developed a flexible Bayesian statistical approach to quantify allele-specific expression (ASE) in complex RNA-seq datasets...
February 23, 2017: Cell
https://www.readbyqxmd.com/read/28235196/human-adaptive-immunity-rescues-an-inborn-error-of-innate-immunity
#2
Laura Israel, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang, Vincent Pedergnana, Maya Chrabieh, Nicole A Lemmens, Vanessa Sancho-Shimizu, Marc Descatoire, Théo Lasseau, Elisabeth Israelsson, Lazaro Lorenzo, Ling Yun, Aziz Belkadi, Andrew Moran, Leonard E Weisman, François Vandenesch, Frederic Batteux, Sandra Weller, Michael Levin, Jethro Herberg, Avinash Abhyankar, Carolina Prando, Yuval Itan, Willem J B van Wamel, Capucine Picard, Laurent Abel, Damien Chaussabel, Xiaoxia Li, Bruce Beutler, Peter D Arkwright, Jean-Laurent Casanova, Anne Puel
The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Responses to all Toll-like receptor 1/2 (TLR1/2), TLR2/6, and TLR4 agonists were impaired in the fibroblasts and leukocytes of all TIRAP-deficient individuals. However, the whole-blood response to the TLR2/6 agonist staphylococcal lipoteichoic acid (LTA) was abolished only in the index case individual, the only family member lacking LTA-specific antibodies (Abs)...
February 23, 2017: Cell
https://www.readbyqxmd.com/read/28235086/postnatal-and-non-invasive-prenatal-detection-of-%C3%AE-thalassemia-mutations-based-on-taqman-genotyping-assays
#3
Giulia Breveglieri, Anna Travan, Elisabetta D'Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification of the DNA target by polymerase chain reaction (PCR), but they could be labor-intensive and technically demanding...
2017: PloS One
https://www.readbyqxmd.com/read/28234931/why-do-people-buy-dogs-with-potential-welfare-problems-related-to-extreme-conformation-and-inherited-disease-a-representative-study-of-danish-owners-of-four-small-dog-breeds
#4
P Sandøe, S V Kondrup, P C Bennett, B Forkman, I Meyer, H F Proschowsky, J A Serpell, T B Lund
A number of dog breeds suffer from welfare problems due to extreme phenotypes and high levels of inherited diseases but the popularity of such breeds is not declining. Using a survey of owners of two popular breeds with extreme physical features (French Bulldog and Chihuahua), one with a high load of inherited diseases not directly related to conformation (Cavalier King Charles Spaniel), and one representing the same size range but without extreme conformation and with the same level of disease as the overall dog population (Cairn Terrier), we investigated this seeming paradox...
2017: PloS One
https://www.readbyqxmd.com/read/28234595/the-adaptive-brain-in-mental-health-overcoming-inherited-risk-factors
#5
Paul R Albert
No abstract text is available yet for this article.
January 2017: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/28234349/genomic-changes-associated-with-the-evolutionary-transition-of-an-insect-gut-symbiont-into-a-blood-borne-pathogen
#6
Francisca Hid Segers, Lucie Kešnerová, Michael Kosoy, Philipp Engel
The genus Bartonella comprises facultative intracellular bacteria with a unique lifestyle. After transmission by blood-sucking arthropods they colonize the erythrocytes of mammalian hosts causing acute and chronic infectious diseases. Although the pathogen-host interaction is well understood, little is known about the evolutionary origin of the infection strategy manifested by Bartonella species. Here we analyzed six genomes of Bartonella apis, a honey bee gut symbiont that to date represents the closest relative of pathogenic Bartonella species...
February 24, 2017: ISME Journal
https://www.readbyqxmd.com/read/28234348/mixed-transmission-modes-and-dynamic-genome-evolution-in-an-obligate-animal-bacterial-symbiosis
#7
Shelbi L Russell, Russell B Corbett-Detig, Colleen M Cavanaugh
Reliable transmission of symbionts between host generations facilitates the evolution of beneficial and pathogenic associations. Although transmission mode is typically characterized as either vertical or horizontal, the prevalence of intermediate transmission modes, and their impact on symbiont genome evolution, are understudied. Here, we use population genomics to explore mixed transmission modes of chemosynthetic bacterial symbionts in the bivalve Solemya velum. Despite strong evidence for symbiont inheritance through host oocytes, whole-genome analyses revealed signatures of frequent horizontal transmission, including discordant mitochondrial-symbiont genealogies, widespread recombination and a dynamic symbiont genome structure consistent with evolutionary patterns of horizontally transmitted associations...
February 24, 2017: ISME Journal
https://www.readbyqxmd.com/read/28233860/whole-genome-sequencing-of-a-family-with-hereditary-pulmonary-alveolar-proteinosis-identifies-a-rare-structural-variant-involving-csf2ra-crlf2-il3ra-gene-disruption
#8
Chih-Yung Chiu, Shih-Chi Su, Wen-Lang Fan, Shen-Hao Lai, Ming-Han Tsai, Shih-Hsiang Chen, Kin-Sun Wong, Wen-Hung Chung
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease in which the abnormalities in alveolar surfactant accumulation are caused by impairments of GM-CSF pathway attributing to defects in a variety of genes. However, hereditary PAP is extremely uncommon and a detailed understanding in the genetic inheritance of PAP in a family may provide timely diagnosis, treatment and proper intervention including genetic consultation. Here, we described a comprehensive analysis of genome and gene expression for a family containing one affected child with a diagnosis of PAP and two other healthy siblings...
February 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28233300/a-novel-dnajb6-mutation-causes-dominantly-inherited-distal-onset-myopathy-and-compromises-dnajb6-function
#9
Pei-Chien Tsai, Yu-Shuen Tsai, Bing-Wen Soong, Yen-Hua Huang, Hung-Ta Wu, Ying-Hao Chen, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee
Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly-inherited limb-girdle muscular dystrophy or distal-onset myopathy. To identify the genetic cause of distal-onset myopathy in a Taiwanese family of Han Chinese origin, we performed exome sequencing for the two affected individuals and identified a heterozygous mutation, c.287C>T (p.Pro96Leu) in the DNAJB6 gene that co-segregated with myopathy in the family. Notably, this mutation is novel and localizes within the glycine and phenylalanine-rich (G/F) domain and alters an amino acid residue previously reported with a different mutation...
February 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28233183/leber-hereditary-optic-neuropathy-exemplar-of-an-mtdna-disease
#10
Douglas C Wallace, Marie T Lott
The report in 1988 that Leber Hereditary Optic Neuropathy (LHON) was the product of mitochondrial DNA (mtDNA) mutations provided the first demonstration of the clinical relevance of inherited mtDNA variation. From LHON studies, the medical importance was demonstrated for the mtDNA showing its coding for the most important energy genes, its maternal inheritance, its high mutation rate, its presence in hundreds to thousands of copies per cell, its quantitatively segregation of biallelic genotypes during both mitosis and meiosis, its preferential effect on the most energetic tissues including the eye and brain, its wide range of functional polymorphisms that predispose to common diseases, and its accumulation of mutations within somatic tissues providing the aging clock...
February 24, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28233036/avoiding-sports-related-sudden-cardiac-death-in-children-with-congenital-channelopathy-recommendations-for-sports-activities
#11
C N Lang, J Steinfurt, K E Odening
For the past few years, children affected by an inherited channelopathy have been counseled to avoid (recreational) sports activities and all competitive sports so as to prevent exercise-induced arrhythmia and sudden cardiac death. An increased understanding of the pathophysiological mechanisms, better anti-arrhythmic strategies, and, in particular, more epidemiological data on exercise-induced arrhythmia in active athletes with channelopathies have changed the universal recommendation of "no sports," leading to revised, less strict, and more differentiated guidelines (published by the American Heart Association/American College of Cardiology in 2015)...
February 23, 2017: Herz
https://www.readbyqxmd.com/read/28232822/plasmid-classification-in-an-era-of-whole-genome-sequencing-application-in-studies-of-antibiotic-resistance-epidemiology
#12
Alex Orlek, Nicole Stoesser, Muna F Anjum, Michel Doumith, Matthew J Ellington, Tim Peto, Derrick Crook, Neil Woodford, A Sarah Walker, Hang Phan, Anna E Sheppard
Plasmids are extra-chromosomal genetic elements ubiquitous in bacteria, and commonly transmissible between host cells. Their genomes include variable repertoires of 'accessory genes,' such as antibiotic resistance genes, as well as 'backbone' loci which are largely conserved within plasmid families, and often involved in key plasmid-specific functions (e.g., replication, stable inheritance, mobility). Classifying plasmids into different types according to their phylogenetic relatedness provides insight into the epidemiology of plasmid-mediated antibiotic resistance...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28232729/convergence-and-divergence-in-sex-chromosome-evolution
#13
Catherine L Peichel
A sequence assembly of the chicken W chromosome enables reconstruction of the gene content of the W chromosome across 14 bird species and shows striking similarities in the maintenance of broadly expressed and dosage-sensitive genes on highly degenerate sex chromosomes in both birds and mammals. However, the chicken W chromosome is not enriched for genes with expression in female-specific tissues, providing an intriguing contrast to the acquisition and amplification of genes with testis-specific expression on mammalian Y chromosomes and suggesting that the inheritance of chromosomes solely through females or males can lead to different evolutionary outcomes...
February 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28231933/international-recommendations-for-electrocardiographic-interpretation-in%C3%A2-athletes
#14
REVIEW
Sanjay Sharma, Jonathan A Drezner, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural, or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
February 28, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28231770/mutation-affecting-the-proximal-promoter-of-endoglin-as-the-origin-of-hereditary-hemorrhagic-telangiectasia-type-1
#15
Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez, Luisa M Botella
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes. Pathogenic mutations have been described in exons, splice junctions and, in a few cases with ENG mutations, in the proximal promoter, which creates a new ATG start site...
February 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28231613/genetic-determinism-vs-phenotypic-plasticity-in-protist-morphology
#16
Matthieu Mulot, Katarzyna Marcisz, Lara Grandgirard, Enrique Lara, Anush Kosakyan, Bjorn J M Robroek, Mariusz Lamentowicz, Richard J Payne, Edward A D Mitchell
Untangling the relationships between morphology and phylogeny is key to building a reliable taxonomy, but is especially challenging for protists, where the existence of cryptic or pseudocryptic species makes finding relevant discriminant traits difficult. Here we use Hyalosphenia papilio (a testate amoeba) as a model species to investigate the contribution of phylogeny and phenotypic plasticity in its morphology. We study the response of Hyalosphenia papilio morphology (shape and pores number) to environmental variables in 1) a manipulative experiment with controlled conditions (water level), 2) an observational study of a withinsite natural ecological gradient (water level), and 3) an observational study across 37 European peatlands (climate)...
February 23, 2017: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/28231340/the-widely-used-nicotiana-benthamiana-16c-line-has-an-unusual-t-dna-integration-pattern-including-a-transposon-sequence
#17
Joshua G Philips, Fatima Naim, Michał T Lorenc, Kevin J Dudley, Roger P Hellens, Peter M Waterhouse
Nicotiana benthamiana is employed around the world for many types of research and one transgenic line has been used more extensively than any other. This line, 16c, expresses the Aequorea victoria green fluorescent protein (GFP), highly and constitutively, and has been a major resource for visualising the mobility and actions of small RNAs. Insights into the mechanisms studied at a molecular level in N. benthamiana 16c are likely to be deeper and more accurate with a greater knowledge of the GFP gene integration site...
2017: PloS One
https://www.readbyqxmd.com/read/28231010/generation-of-anisotropic-massless-dirac-fermions-and-asymmetric-klein-tunneling-in-few-layer-black-phosphorus-superlattices
#18
Zhenglu Li, Ting Cao, Meng Wu, Steven G Louie
Artificial lattices have been employed in a broad range of two-dimensional systems, including those with electrons, atoms and photons, in the quest for massless Dirac fermions with high flexibility and controllability. Establishing triangular or hexagonal symmetry, from periodically patterned molecule assembly or electrostatic gating as well as from moiré pattern induced by substrate, has produced electronic states with linear dispersions from two-dimensional electron gas (2DEG) residing in semiconductors, metals and graphene...
February 23, 2017: Nano Letters
https://www.readbyqxmd.com/read/28230828/chromosomal-mutagenesis-in-human-somatic-cells-30-year-cytogenetic-monitoring-after-chornobyl-accident
#19
M A Pilinska, G M Shemetun, O V Shemetun, S S Dybsky, O B Dybska, O O Talan, L R Pedan, D А Kurinnyi
In the lecture we have generalized and analyzed the data of cytogenetic laboratory of National Research Center for Radiation Medicine of the National Academy of Medical Sciences of Ukraine on 30-year selective cytogenetic monitoring among the priority contingents of different ages exposed to radiation after Chornobyl accident in Ukraine. It is highlighted that not only targeted but also untargeted radiation-induced cytogenetic effects should be explored, especially in delayed terms following radiation exposure...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28229907/expression-and-functional-evaluation-of-biopharmaceuticals-made-in-plant-chloroplasts
#20
REVIEW
Bei Zhang, Balamurugan Shanmugaraj, Henry Daniell
After approval of the first plant-made biopharmaceutical by FDA for human use, many protein drugs are now in clinical development. Within the last decade, significant advances have been made in expression of heterologous complex/large proteins in chloroplasts of edible plants using codon optimized human or viral genes. Furthermore, advances in quantification enable determination of in-planta drug dosage. Oral delivery of plastid-made biopharmaceuticals (PMB) is affordable because it eliminates prohibitively expensive fermentation, purification processes addressing major challenges of short shelf-life after cold storage...
February 21, 2017: Current Opinion in Chemical Biology
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