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https://www.readbyqxmd.com/read/29792928/translation-of-dipeptide-repeat-proteins-from-the-c9orf72-expanded-repeat-is-associated-with-cellular-stress
#1
Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P Roos
Expansion of a hexanucleotide repeat (HRE), GGGGCC, in the C9ORF72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (FALS), frontotemporal dementia (FTD) and ALS-FTD, as well as 5-10% of sporadic ALS. Despite the location of the HRE in the non-coding region (with respect to the main C9ORF72 gene product), dipeptide repeat proteins (DPRs) that are thought to be toxic are translated from the HRE in all three reading frames from both the sense and antisense transcript. Here, we identified a CUG translation initiation codon that has a good Kozak consensus sequence as the translation initiation codon...
May 21, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29791184/expert-exchange-workgroup-on-children-aged-5-and-younger-with-severe-obesity-a-narrative-review-of-medical-and-genetic-risk-factors
#2
Nazrat Mirza, Thao-Ly Phan, June Tester, Angela Fals, Cristina Fernandez, George Datto, Elizabeth Estrada, Ihuoma Eneli
Severe obesity defined as an age- and gender-specific body mass index ≥120% of the 95th percentile in children younger than 5 years is well recognized as a significant challenge for prevention and treatment. This article provides an overview of the prevalence, classification of obesity severity, patterns of weight gain trajectory, medical and genetic risk factors, and comorbid disorders among young children with an emphasis on severe obesity. Studies suggest rapid weight gain trajectory in infancy, maternal smoking, maternal gestational diabetes, and genetic conditions are associated with an increased risk for severe obesity in early childhood...
May 23, 2018: Childhood Obesity
https://www.readbyqxmd.com/read/29760185/stability-of-an-aggregation-prone-partially-folded-state-of-human-profilin-1-correlates-with-aggregation-propensity
#3
Edoardo Del Poggetto, Angelo Toto, Chiara Aloise, Francesco Di Piro, Ludovica Gori, Francesco Malatesta, Stefano Gianni, Fabrizio Chiti, Francesco Bemporad
A set of missense mutations in the gene encoding profilin-1 has been linked to the onset of familiar forms of amyotrophic lateral sclerosis (fALS, also known as Lou Gehrig's disease). The pathogenic potential of these mutations is linked to the formation of intracellular inclusions of the mutant proteins and correlates with the mutation-induced destabilization of its native, fully folded state. However, the mechanism by which these mutations promote misfolding and self-assembly is yet unclear. Here, using temperature-jump and stopped-flow kinetic measurements, we show that, during refolding, wild-type profilin-1 transiently populates a partially folded (PF) state endowed with hydrophobic clusters exposed to the solvent and with no detectable secondary structure...
May 14, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29742476/competitive-adsorption-of-cd-2-pb-2-and-ni-2-onto-fe-3-modified-argillaceous-limestone-influence-of-ph-ionic-strength-and-natural-organic-matters
#4
Shuran He, Yongtao Li, Liping Weng, Jinjin Wang, Jinxian He, Yonglin Liu, Kun Zhang, Qihong Wu, Yulong Zhang, Zhen Zhang
In present study, the feasibility of applying a natural adsorbent with Fe3+ modification (Fe3+ -modified argillaceous limestone, FAL) on the competitive adsorption of heavy metals (i.e., Cd2+ , Pb2+ and Ni2+ ) was evaluated. The current results revealed an efficient adsorption on Cd2+ , Pb2+ and Ni2+ in mono-metal system. Further experiments demonstrated a high selectivity of Pb2+ during the competitive adsorption of Cd2+ , Pb2+ and Ni2+ . The adsorption selectivity of the metal ions followed the order of Pb ≫ Cd > Ni...
May 6, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29710810/exploring-microrna-biomarker-for-amyotrophic-lateral-sclerosis
#5
Y-H Taguchi, Hsiuying Wang
Amyotrophic lateral sclerosis (ALS) is among the severe neuro degenerative diseases that lack widely available effective treatments. As the disease progresses, patients lose the control of voluntary muscles. Although the neuronal degeneration is the cause of this disease, the failure mechanism is still unknown. In order to seek genetic mechanisms that initiate and progress ALS, the association of microRNA (miRNA) expression with this disease was considered. Serum miRNAs from healthy controls, sporadic ALS (sALS), familial ALS (fALS) and ALS mutation carriers were investigated...
April 28, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29629094/the-lewis-superacid-al-n-c-6-f-5-2-3-and-its-higher-homolog-ga-n-c-6-f-5-2-3-structural-features-theoretical-investigation-and-reactions-of-a-metal-amide-with-higher-fluoride-ion-affinity-than-sbf-5
#6
J F Kögel, D A Sorokin, A Khvorost, M Scott, K Harms, D Himmel, I Krossing, J Sundermeyer
Herein we present the synthesis of the two Lewis acids Al[N(C6 F5 )2 ]3 (ALTA) and Ga[N(C6 F5 )2 ]3 (GATA) via salt elimination reactions. The metal complexes were characterized by NMR-spectroscopic methods and X-ray diffraction analysis revealing the stabilization of the highly Lewis acidic metal centers by secondary metal-fluorine contacts. The Lewis acidic properties of Al[N(C6 F5 )2 ]3 and Ga[N(C6 F5 )2 ]3 are demonstrated by reactions with Lewis bases resulting in the formation of metallates accompanied by crucial structural changes...
January 7, 2018: Chemical Science
https://www.readbyqxmd.com/read/29627580/poloxamer-188-decreases-membrane-toxicity-of-mutant-sod1-and-ameliorates-pathology-observed-in-sod1-mouse-model-for-als
#7
Jacob J Riehm, Lijun Wang, Ghanashyam Ghadge, Michael Teng, Ana M Correa, Jeremy D Marks, Raymond P Roos, Michael J Allen
Here we report a gain in function for mutant (mt) superoxide dismutase I (SOD1), a cause of familial amyotrophic lateral sclerosis (FALS), wherein small soluble oligomers of mtSOD1 acquire a membrane toxicity. Phosphatidylglycerol (PG) lipid domains are selectively targeted, which could result in membrane damage or "toxic channels" becoming active in the bilayer. This PG-selective SOD1-mediated membrane toxicity is largely reversible in vitro by a widely-available FDA-approved surfactant and membrane-stabilizer P188...
April 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29609497/a-novel-d90_k91insn-mutation-in-exon-4-of-the-sod1-gene-caused-familial-amyotrophic-lateral-sclerosis-in-a-chinese-pedigree
#8
Yanran Li, Bo Sun, Siyu Chen, Yuting Ren, Fang Cui, Fei Yang, Zhaohui Chen, Li Ling, Xusheng Huang
We reported a novel heterozygous duplication mutation (c.272_274dupACA, D90_K91insN) in exon 4 of the SOD1 gene in a Chinese pedigree. This pedigree demonstrates an autosomal dominant pattern of inheritance, with potentially reduced penetrance. The clinical phenotype was rather uniform with a distal lower extremity onset, predominant involvement of lower motor neurons (LMNs), and a relatively short survival time (mean 2.6 years) compared with other mutations in the loop V structure of SOD1. We also detected that the average SOD1 activity in D90_K91insN mutation carriers is 68...
April 2, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29509071/fal-clowes-1921-2016-a-memoir
#9
Peter W Barlow
With the death of Frederick Albert Lionel Clowes on 21 September 2016, plant sciences lost a member of that lineage of experimental morphologists which reaches back to Johann Wolfgang von Goethe. In 1949, he discovered a group of cells at the tip of the beech root apex which were metabolically inert. In 1954, he confirmed generality of this root apex feature and coined the term 'quiescent center'. He continued to study these unique cells throughout next decades up to his last papers published in 1980s. Concept of the quiescent centre of plant roots is one of the milestones in plant cell biology and plant physiology...
March 4, 2018: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/29493298/phenotypic-and-genotypic-studies-of-als-cases-in-als-sma-families
#10
Philippe Corcia, Patrick Vourc'h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R Andres, Vincent Meininger, William Camu
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients...
March 1, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29491329/-an-early-history-of-japanese-amyotrophic-lateral-sclerosis-als-related-diseases-and-the-current-development
#11
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years...
March 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29470592/-treatment-after-anatomical-and-inverse-shoulder-tep
#12
REVIEW
M Farkhondeh Fal, J Kircher
Shoulder arthroplasties in specialized centers are routine procedures with an increasing number of operations in the developed countries. Restoration of pain free shoulder function requires an intensive, specific and individual rehabilitation program for each patient. There is a phase-like course with different specific demands and measures that extends over a period of several weeks. Return to sport and a pain free function for activities of daily living resulting in a high patient satisfaction can routinely be expected...
May 2018: Der Orthopäde
https://www.readbyqxmd.com/read/29428949/elevated-global-dna-methylation-is-not-exclusive-to-amyotrophic-lateral-sclerosis-and-is-also-observed-in-spinocerebellar-ataxia-types-1-and-2
#13
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29405028/next-generation-sequencing-and-als-known-genes-different-phenotyphes
#14
Rosa Campopiano, Larisa Ryskalin, Emiliano Giardina, Stefania Zampatti, Carla L Busceti, Francesca Biagioni, Rosangela Ferese, Marianna Storto, Stefano Gambardella, Francesco Fornai
Amyotrophic lateral sclerosis (ALS) is fatal neurodegenerative disease clinically characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease, and over the last decade, identification of mutations in about 20 genes predisposing to these disorders has provided the means to better understand their pathogenesis. Next Generation sequencing (NGS) is an advanced high-throughput DNA sequencing technology which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic neurological and neurodegenerative diseases...
December 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29404323/microrna-146a-regulates-perfusion-recovery-in-response-to-arterial-occlusion-via-arteriogenesis
#15
Joshua L Heuslein, Stephanie P McDonnell, Ji Song, Brian H Annex, Richard J Price
The growth of endogenous collateral arteries that bypass arterial occlusion(s), or arteriogenesis, is a fundamental shear stress-induced adaptation with implications for treating peripheral arterial disease. MicroRNAs (miRs) are key regulators of gene expression in response to injury and have strong therapeutic potential. In a previous study, we identified miR-146a as a candidate regulator of vascular remodeling. Here, we tested whether miR-146a regulates in vitro angiogenic endothelial cell (EC) behaviors, as well as perfusion recovery, arteriogenesis, and angiogenesis in response to femoral arterial ligation (FAL) in vivo ...
2018: Frontiers in Bioengineering and Biotechnology
https://www.readbyqxmd.com/read/29352617/high-frequency-of-c9orf72-hexanucleotide-repeat-expansion-in-amyotrophic-lateral-sclerosis-patients-from-two-founder-populations-sharing-the-same-risk-haplotype
#16
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J Traynor, Vivian E Drory, Avi Orr-Urtreger
We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9...
April 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29241710/new-insights-into-the-gene-expression-associated-to-amyotrophic-lateral-sclerosis
#17
REVIEW
Daniela Recabarren-Leiva, Marcelo Alarcón
Amyotrophic lateral sclerosis (ALS) is the most prevalent neuromuscular disease worldwide. It is a lethal and progressive neurodegenerative disease, principally affecting motor neurons; patient clinical characteristics are muscle weakness, dysphagia and respiratory failure. The mean age is related to family history (40years, familial ALS or FALS) or with no family history (50years), but it is more common in people aged 60-69years. The cause of ALS is not known and it is not known yet why it affects some people and not others...
January 15, 2018: Life Sciences
https://www.readbyqxmd.com/read/29234142/a-molecular-chaperone-activity-of-ccs-restores-the-maturation-of-sod1-fals-mutants
#18
Enrico Luchinat, Letizia Barbieri, Lucia Banci
Superoxide dismutase 1 (SOD1) is an important metalloprotein for cellular oxidative stress defence, that is mutated in familiar variants of Amyotrophic Lateral Sclerosis (fALS). Some mutations destabilize the apo protein, leading to the formation of misfolded, toxic species. The Copper Chaperone for SOD1 (CCS) transiently interacts with SOD1 and promotes its correct maturation by transferring copper and catalyzing disulfide bond formation. By in vitro and in-cell NMR, we investigated the role of the SOD-like domain of CCS (CCS-D2)...
December 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29198548/embolization-of-arterial-gastrointestinal-hemorrhage-with-fuaile-medical-adhesive
#19
Min Xu, Xiaoli Zhu, Yizhi Liu, Zhi Li, Tianzhi An, Tianpeng Jiang, Jie Song, Lizhou Wang, Shi Zhou, Caifang Ni
BACKGROUND: To investigate the safety and effectiveness of Fuaile medical adhesive (FAL) with superselective catheterization in endovascular embolotherapy for the treatment of gastrointestinal hemorrhage (GIH) that was unresponsive to internal medicine treatment and gastroscopy management. METHODS: A total of 25 patients with GIH, confirmed using angiography but with failed results after internal medicine treatment or gastroscopy were retrospectively analyzed. A mixture of lipiodol and FAL (1:1) was used to embolize the bleeding vessels...
November 30, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/29197603/a-reliable-mouse-model-of-hind-limb-gangrene
#20
Punam P Parikh, Diego Castilla, Roberta M Lassance-Soares, Hongwei Shao, Manuela Regueiro, Yan Li, Roberto Vazquez-Padron, Keith A Webster, Zhao-Jun Liu, Omaida C Velazquez
BACKGROUND: Lack of a reliable hind limb gangrene animal model limits preclinical studies of gangrene, a severe form of critical limb ischemia. We develop a novel mouse hind limb gangrene model to facilitate translational studies. METHODS: BALB/c, FVB, and C57BL/6 mice underwent femoral artery ligation (FAL) with or without administration of NG -nitro-L-arginine methyl ester (L-NAME), an endothelial nitric oxide synthase inhibitor. Gangrene was assessed using standardized ischemia scores ranging from 0 (no gangrene) to 12 (forefoot gangrene)...
April 2018: Annals of Vascular Surgery
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