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https://www.readbyqxmd.com/read/27431290/clinical-genomics-expands-the-morbid-genome-of-intellectual-disability-and-offers-a-high-diagnostic-yield
#1
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab, N Ewida, H S Alsaif, H Al Sharif, W Alamoudi, A Kentab, F A Bashiri, M Alnaser, A H AlWadei, M Alfadhel, W Eyaid, A Hashem, A Al Asmari, M M Saleh, A AlSaman, K A Alhasan, M Alsughayir, M Al Shammari, A Mahmoud, Z N Al-Hassnan, M Al-Husain, R Osama Khalil, N Abd El Meguid, A Masri, R Ali, T Ben-Omran, P El Fishway, A Hashish, A Ercan Sencicek, M State, A M Alazami, M A Salih, N Altassan, S T Arold, M Abouelhoda, S M Wakil, D Monies, R Shaheen, F S Alkuraya
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58% (n=196)...
July 19, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/26954181/effects-of-three-feeding-systems-on-production-performance-rumen-fermentation-and-rumen-digesta-particle-structure-of-beef-cattle
#2
Y F Liu, F F Sun, F C Wan, H B Zhao, X M Liu, W You, H J Cheng, G F Liu, X W Tan, E L Song
The effects of three different feeding systems on beef cattle production performance, rumen fermentation, and rumen digesta particle structure were investigated by using 18 Limousin (steers) with a similar body weight (575±10 kg) in a 80-d experiment. The animals were equally and randomly divided into three treatment groups, namely, total mixed ration group (cattle fed TMR), SI1 group (cattle fed concentrate firstly then roughage), and SI2 group (cattle fed roughage firstly then concentrate). The results showed that the average daily gain was significantly higher in cattle receiving TMR than in those receiving SI1 and SI2 (p<0...
May 2016: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/26818387/gene-expression-profiling-identifies-candidate-biomarkers-for-active-and-latent-tuberculosis
#3
COMPARATIVE STUDY
Shih-Wei Lee, Lawrence Shih-Hsin Wu, Guan-Mau Huang, Kai-Yao Huang, Tzong-Yi Lee, Julia Tzu-Ya Weng
BACKGROUND: Tuberculosis (TB) is a serious infectious disease in that 90% of those latently infected with Mycobacterium tuberculosis present no symptoms, but possess a 10% lifetime chance of developing active TB. To prevent the spread of the disease, early diagnosis is crucial. However, current methods of detection require improvement in sensitivity, efficiency or specificity. In the present study, we conducted a microarray experiment, comparing the gene expression profiles in the peripheral blood mononuclear cells among individuals with active TB, latent infection, and healthy conditions in a Taiwanese population...
2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/25877867/the-ribosome-quality-control-pathway-can-access-nascent-polypeptides-stalled-at-the-sec61-translocon
#4
Karina von der Malsburg, Sichen Shao, Ramanujan S Hegde
Cytosolic ribosomes that stall during translation are split into subunits, and nascent polypeptides trapped in the 60S subunit are ubiquitinated by the ribosome quality control (RQC) pathway. Whether the RQC pathway can also target stalls during cotranslational translocation into the ER is not known. Here we report that listerin and NEMF, core RQC components, are bound to translocon-engaged 60S subunits on native ER membranes. RQC recruitment to the ER in cultured cells is stimulated by translation stalling...
June 15, 2015: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/25658201/ribosome-rescue-and-protein-quality-control-in-concert
#5
COMMENT
Tarek Hilal, Christian M T Spahn
Utilizing their previously established minimal in vitro ubiquitination system (Shao and Hegde, 2014), Shao et al. (2015) now show how NEMF supports the binding of Listerin to stalled 60S-RNCs, a major substrate of ribosomal quality control.
February 5, 2015: Molecular Cell
https://www.readbyqxmd.com/read/25578875/structure-and-assembly-pathway-of-the-ribosome-quality-control-complex
#6
Sichen Shao, Alan Brown, Balaji Santhanam, Ramanujan S Hegde
During ribosome-associated quality control, stalled ribosomes are split into subunits and the 60S-housed nascent polypeptides are poly-ubiquitinated by Listerin. How this low-abundance ubiquitin ligase targets rare stall-generated 60S among numerous empty 60S is unknown. Here, we show that Listerin specificity for nascent chain-60S complexes depends on nuclear export mediator factor (NEMF). The 3.6 Å cryo-EM structure of a nascent chain-containing 60S-Listerin-NEMF complex revealed that NEMF makes multiple simultaneous contacts with 60S and peptidyl-tRNA to sense nascent chain occupancy...
February 5, 2015: Molecular Cell
https://www.readbyqxmd.com/read/24646681/a-highly-conserved-family-of-domains-related-to-the-dna-glycosylase-fold-helps-predict-multiple-novel-pathways-for-rna-modifications
#7
A Maxwell Burroughs, L Aravind
A protein family including mammalian NEMF, Drosophila caliban, yeast Tae2, and bacterial FpbA-like proteins was first defined over a decade ago and found to be universally distributed across the three domains/superkingdoms of life. Since its initial characterization, this family of proteins has been tantalizingly linked to a wide range of biochemical functions. Tapping the enormous wealth of genome information that has accumulated since the initial characterization of these proteins, we perform a detailed computational analysis of the family, identifying multiple conserved domains...
2014: RNA Biology
https://www.readbyqxmd.com/read/17243010/nutritional-properties-of-quality-protein-maize-and-chickpea-extruded-based-weaning-food
#8
J Milán-Carrillo, C Valdéz-Alarcón, R Gutiérrez-Dorado, O G Cárdenas-Valenzuela, R Mora-Escobedo, J A Garzón-Tiznado, C Reyes-Moreno
Malnutrition is one of the major causes of morbidity and mortality among young children in most of the developing countries. To minimize the adversities of malnutrition, low-cost infant supplementary foods have been developed and are being supplied to the needy through state-sponsored nutrition intervention programmers. The present study had two objectives: to determine the best combination of nixtamalized extruded quality protein maize (NEMF) and extruded chickpea (ECF) flours for producing a weaning food, and to evaluate the nutritional properties of the optimized NEMF/ECF mixture and the weaning food...
March 2007: Plant Foods for Human Nutrition
https://www.readbyqxmd.com/read/15710894/root-knot-nematodes-and-bacterial-nod-factors-elicit-common-signal-transduction-events-in-lotus-japonicus
#9
Ravisha R Weerasinghe, David McK Bird, Nina S Allen
The symbiosis responsible for nitrogen fixation in legume root nodules is initiated by rhizobial signaling molecules [Nod factors (NF)]. Using transgenically tagged microtubules and actin, we dynamically profiled the spatiotemporal changes in the cytoskeleton of living Lotus japonicus root hairs, which precede root-hair deformation and reflect one of the earliest host responses to NF. Remarkably, plant-parasitic root-knot nematodes (RKN) invoke a cytoskeletal response identical to that seen in response to NF and induce root-hair waviness and branching in legume root hairs via a signal able to function at a distance...
February 22, 2005: Proceedings of the National Academy of Sciences of the United States of America
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