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https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#1
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28800766/examining-non-ltr-retrotransposons-in-the-context-of-the-evolving-primate-brain
#2
REVIEW
Sara B Linker, Maria C Marchetto, Iñigo Narvaiza, Ahmet M Denli, Fred H Gage
Researchers have long sought to understand the genetic basis of the cognitive differences between primates, with particular focus on the human brain. Although all mutational types have worked in concert with evolutionary forces to generate the current human brain, in this review we will explore the impact of mobile elements, specifically non-LTR retrotransposons. Non-LTR retrotransposons have contributed coding and regulatory sequences to the genome throughout evolution. During primate evolution there have been multiple waves of LINE retrotransposition as well as the birth of new mobile elements such as the SINEs Alu and SVA and we will explore what kinds of impacts these may have had on the evolving human brain...
August 11, 2017: BMC Biology
https://www.readbyqxmd.com/read/28791910/a-novel-31-1%C3%A2-kb-%C3%AE-thalassemia-deletion-mex3-found-in-a-mexican-family
#3
Víctor M Rentería-López, Francisco J Perea-Díaz, Lourdes C Rizo-delaTorre, Josefina Y Sánchez-López, Bertha Ibarra-Cortés
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5' Alu element has been involved in at least two other α-thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint...
August 9, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28776093/identification-of-an-atypical-microdeletion-generating-the-rnf135-suz12-chimeric-gene-and-causing-a-position-effect-in-an-nf1-patient-with-overgrowth
#4
Luca Ferrari, Giulietta Scuvera, Arianna Tucci, Donatella Bianchessi, Francesco Rusconi, Francesca Menni, Elena Battaglioli, Donatella Milani, Paola Riva
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities...
August 3, 2017: Human Genetics
https://www.readbyqxmd.com/read/28771278/co-injection-of-mesenchymal-stem-cells-with-endothelial-progenitor-cells-accelerates-muscle-recovery-in-hind-limb-ischemia-through-an-endoglin-dependent-mechanism
#5
Elisa Rossi, David Smadja, Celine Goyard, Audrey Cras, Blandine Dizier, Nour Bacha, Anna Lokajczyk, Coralie L Guerin, Nicolas Gendron, Benjamin Planquette, Virginie Mignon, Carmelo Bernabéu, Olivier Sanchez, David M Smadja
Endothelial colony-forming cells (ECFCs) are progenitor cells committed to endothelial lineages and have robust vasculogenic properties. Mesenchymal stem cells (MSCs) have been described to support ECFC-mediated angiogenic processes in various matrices. However, MSC-ECFC interactions in hind limb ischemia (HLI) are largely unknown. Here we examined whether co-administration of ECFCs and MSCs bolsters vasculogenic activity in nude mice with HLI. In addition, as we have previously shown that endoglin is a key adhesion molecule, we evaluated its involvement in ECFC/MSC interaction...
August 3, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28770012/discovery-of-rare-diagnostic-aluyb8-9-elements-in-diverse-human-populations
#6
Julie Feusier, David J Witherspoon, W Scott Watkins, Clément Goubert, Thomas A Sasani, Lynn B Jorde
BACKGROUND: Polymorphic human Alu elements are excellent tools for assessing population structure, and new retrotransposition events can contribute to disease. Next-generation sequencing has greatly increased the potential to discover Alu elements in human populations, and various sequencing and bioinformatics methods have been designed to tackle the problem of detecting these highly repetitive elements. However, current techniques for Alu discovery may miss rare, polymorphic Alu elements...
2017: Mobile DNA
https://www.readbyqxmd.com/read/28765568/novel-copy-number-variation-of-pomgnt1-associated-with-muscle-eye-brain-disease-detected-by-next-generation-sequencing
#7
Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of three MEB patients with POMGNT1 mutations. One female and two male patients from three unrelated families were diagnosed with MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, and ocular malformations...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28755323/detection-of-the-alternative-lengthening-of-telomeres-pathway-in-malignant-gliomas-for-improved-molecular-diagnosis
#8
Anne Fogli, Marie-Véronique Demattei, Laetitia Corset, Catherine Vaurs-Barrière, Emmanuel Chautard, Julian Biau, Jean-Louis Kémény, Catherine Godfraind, Bruno Pereira, Toufik Khalil, Nathalie Grandin, Philippe Arnaud, Michel Charbonneau, Pierre Verrelle
Human malignant gliomas exhibit acquisition of either one of two telomere maintenance mechanisms, resulting from either reactivation of telomerase expression or activation of an alternative lengthening of telomeres (ALT) mechanism. In the present study, we analyzed 63 human malignant gliomas for the presence of ALT-specific extrachromosomal circles of telomeric DNA (C-circles) and measured telomerase expression, telomeric DNA content (Telo/Alu method), and telomeric repeat-containing RNAs (TERRA) levels. We also assessed histomolecular markers routinely used in clinical practice...
July 28, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28751461/novel-aberrations-uncovered-in-barrett-s-esophagus-and-esophageal-adenocarcinoma-using-whole-transcriptome-sequencing
#9
Jesper Maag, Oliver M Fisher, Angelique J Levert-Mignon, Dominik C Kaczorowski, Melissa L Thomas, Damian Hussey, David Watson, Antony Wettstein, Yuri V Bobryshev, Melanie Edwards, Marcel E Dinger, Reginald V Lord
Esophageal adenocarcinoma (EAC) has one of the fastest increases in incidence of any cancer, along with poor five-year survival rates. Barrett's esophagus (BE) is the main risk factor for EAC, however the mechanisms driving EAC development remain poorly understood. Here, transcriptomic profiling was performed using RNA-sequencing (RNA-seq) on premalignant and malignant Barrett's tissues to better understand this disease. Machine-learning and network analysis methods were applied to discover novel driver genes for EAC development...
July 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28750672/frequency-of-alu-insertions-within-the-ace-and-pr-loci-in-northwestern-mexicans
#10
Hilda P Navarrete, Linda H Soler, Rosa E Mares, Marco A Ramos
OBJECTIVE: Presently, non-LTR retrotransposons are the most active mobile elements in the human genome. Among these, Alu elements are highly represented in the modern population. Worldwide, distribution of Alu polymorphisms (insertion/deletion; I/D) shows variability between different populations. Two Alu insertion loci, ACE and PR, are significant biomarkers that have served in several genotype-phenotype association studies. In Mexico, studies concerning the frequency of these biomarkers have been conducted mainly in subpopulations from central and southern regions...
July 27, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28734891/ct-defined-prosthesis-patient-mismatch-downgrades-frequency-and-severity-and%C3%A2-demonstrates-no-association-with-adverse-outcomes-after-tavr
#11
John Mooney, Stephanie L Sellers, Phillip Blanke, Philippe Pibarot, Rebecca T Hahn, Danny Dvir, Pamela S Douglas, Neil J Weissman, Susheel K Kodali, Vinod H Thourani, Hasan Jilaihawi, Omar Khalique, Craig R Smith, Shaw Hua Kueh, Mickael Ohana, Romi Grover, Christopher Naoum, Aaron Crowley, Wael A Jaber, Maria C Alu, Rupa Parvataneni, Michael Mack, John G Webb, Martin B Leon, Jonathon A Leipsic
OBJECTIVES: This study sought to determine if indexed effective orifice area (EOAi), using left ventricular outflow tract measured from computed tomography (EOAiCT), reclassified prosthesis-patient mismatch (PPM) compared with conventional echocardiogram-defined measurements (EOAiTTE). BACKGROUND: PPM does not predict mortality following transcatheter aortic valve replacement (TAVR). However, it is unknown if the EOAiCT of the left ventricular outflow tract improves risk stratification...
July 13, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28717665/identification-of-an-alu-element-mediated-deletion-in-the-promoter-region-of-gne-in-siblings-with-gne-myopathy
#12
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A Gahl, Marjan Huizing, Nuria Carrillo, May Christine V Malicdan
BACKGROUND: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase/N-acetylmannosamine (ManNAc) kinase. Typical characteristics of GNE myopathy include progressive myopathy, first involving anterior tibialis muscle and sparing the quadriceps, and rimmed vacuoles on muscle biopsy. Identifying biallelic mutations by sequencing of the GNE gene confirms the diagnosis of GNE myopathy...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715334/exploring-the-feasibility-of-a-dna-computer-design-of-an-alu-using-sticker-based-dna-model
#13
Mayukh Sarkar, Prasun Ghosal, Saraju P Mohanty
Since its inception, DNA computing has advanced to offer an extremely powerful, energy-efficient emerging technology for solving hard computational problems with its inherent massive parallelism and extremely high data density. This would be much more powerful and general purpose when combined with other existing well known algorithmic solutions that exist for conventional computing architectures using a suitable ALU. Thus, a specifically designed DNA ALU that can address operations suitable for both domains can mitigate the gap between these two...
July 13, 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28695890/dual-loss-of-human-polq-and-lig4-abolishes-random-integration
#14
Shinta Saito, Ryo Maeda, Noritaka Adachi
Homologous recombination-mediated gene targeting has greatly contributed to genetic analysis in a wide range of species, but is highly inefficient in human cells because of overwhelmingly frequent random integration events, whose molecular mechanism remains elusive. Here we show that DNA polymerase θ, despite its minor role in chromosomal DNA repair, substantially contributes to random integration, and that cells lacking both DNA polymerase θ and DNA ligase IV, which is essential for non-homologous end joining (NHEJ), exhibit 100% efficiency of spontaneous gene targeting by virtue of undetectable levels of random integration...
July 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/28686707/molecular-characterization-of-occult-hepatitis-b-virus-infection-in-patients-with-end-stage-liver-disease-in-colombia
#15
Julio Cesar Rendon, Fabian Cortes-Mancera, Juan Carlos Restrepo-Gutierrez, Sergio Hoyos, Maria-Cristina Navas
BACKGROUND: Hepatitis B virus (HBV) occult infection (OBI) is a risk factor to be taken into account in transfusion, hemodialysis and organ transplantation. The aim of this study was to identify and characterize at the molecular level OBI cases in patients with end-stage liver disease. METHODS: Sixty-six liver samples were obtained from patients with diagnosis of end-stage liver disease submitted to liver transplantation in Medellin (North West, Colombia). Samples obtained from patients who were negative for the surface antigen of HBV (n = 50) were tested for viral DNA detection by nested PCR for ORFs S, C, and X and confirmed by Southern-Blot...
2017: PloS One
https://www.readbyqxmd.com/read/28673292/effect-of-pharmacogenetics-on-plasma-lumefantrine-pharmacokinetics-and-malaria-treatment-outcome-in-pregnant-women
#16
Ritah F Mutagonda, Appolinary A R Kamuhabwa, Omary M S Minzi, Siriel N Massawe, Muhammad Asghar, Manijeh V Homann, Anna Färnert, Eleni Aklillu
BACKGROUND: Pregnancy has considerable effects on the pharmacokinetic properties of drugs used to treat uncomplicated Plasmodium falciparum malaria. The role of pharmacogenetic variation on anti-malarial drug disposition and efficacy during pregnancy is not well investigated. The study aimed to examine the effect of pharmacogenetics on lumefantrine (LF) pharmacokinetics and treatment outcome in pregnant women. METHODS: Pregnant women with uncomplicated falciparum malaria were enrolled and treated with artemether-lumefantrine (ALu) at Mkuranga and Kisarawe district hospitals in Coast Region of Tanzania...
July 3, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28672131/association-between-serum-persistent-organic-pollutants-and-dna-methylation-in-korean-adults
#17
Mi Hwa Lee, Eo Rin Cho, Jung-Eun Lim, Sun Ha Jee
BACKGROUND: Exposure to persistent organic pollutants (POPs) has been associated with epigenetic changes such as DNA methylation, which can influence human health. However, the association between POPs and DNA methylation by sex was not shown in previous studies. OBJECTIVES: We investigated the association between POPs and DNA methylation in men and women using a larger population. METHODS: A cross-sectional study was conducted using the data of 444 Koreans (253 men and 191 women)...
June 30, 2017: Environmental Research
https://www.readbyqxmd.com/read/28653984/multiple-isoforms-of-anril-in-melanoma-cells-structural-complexity-suggests-variations-in-processing
#18
Debina Sarkar, Ali Oghabian, Pasani K Bodiyabadu, Wayne R Joseph, Euphemia Y Leung, Graeme J Finlay, Bruce C Baguley, Marjan E Askarian-Amiri
The long non-coding RNA ANRIL, antisense to the CDKN2B locus, is transcribed from a gene that encompasses multiple disease-associated polymorphisms. Despite the identification of multiple isoforms of ANRIL, expression of certain transcripts has been found to be tissue-specific and the characterisation of ANRIL transcripts remains incomplete. Several functions have been associated with ANRIL. In our judgement, studies on ANRIL functionality are premature pending a more complete appreciation of the profusion of isoforms...
June 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28652572/cascaded-exciton-energy-transfer-in-a-monolayer-semiconductor-lateral-heterostructure-assisted-by-surface-plasmon-polariton
#19
Jinwei Shi, Meng-Hsien Lin, I-Tung Chen, Nasim Mohammadi Estakhri, Xin-Quan Zhang, Yanrong Wang, Hung-Ying Chen, Chun-An Chen, Chih-Kang Shih, Andrea Alù, Xiaoqin Li, Yi-Hsien Lee, Shangjr Gwo
Atomically thin lateral heterostructures based on transition metal dichalcogenides have recently been demonstrated. In monolayer transition metal dichalcogenides, exciton energy transfer is typically limited to a short range (~1 μm), and additional losses may be incurred at the interfacial regions of a lateral heterostructure. To overcome these challenges, here we experimentally implement a planar metal-oxide-semiconductor structure by placing a WS2/MoS2 monolayer heterostructure on top of an Al2O3-capped Ag single-crystalline plate...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28637190/evolution-of-the-sperm-methylome-of-primates-is-associated-with-retrotransposon-insertions-and-genome-instability
#20
Kei Fukuda, Yukihiro Inoguchi, Kenji Ichiyanagi, Tomoko Ichiyanagi, Yasuhiro Go, Masashi Nagano, Yojiro Yanagawa, Noboru Takaesu, Yasuyuki Ohkawa, Hiroo Imai, Hiroyuki Sasaki
Changes in gene expression resulting from epigenetic and/or genetic changes play an important role in the evolutionary divergence of phenotypes. To explore how epigenetic and genetic changes are linked during primate evolution, we have compared the genome-wide DNA methylation profiles (methylomes) of humans and chimpanzees, which have a 1.2% DNA sequence divergence, of sperm, the frontal cortices, B cells, and neutrophils. We revealed that species-specific differentially methylated regions (S-DMRs), ranging from several hundred bp to several kb, were frequently associated with sequence changes in transcription factor binding sites and insertions of Alu and SVA retrotransposons...
June 20, 2017: Human Molecular Genetics
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