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familial aggregation

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https://www.readbyqxmd.com/read/28344091/determination-of-structural-and-thermodynamic-parameters-of-bovine-%C3%AE-trypsin-isoform-in-aqueous-organic-media
#1
Dayanne Pinho Rosa, Evaldo Vitor Pereira, Antonio Victor Baioco Vasconcelos, Maria Aparecida Cicilini, André Romero da Silva, Caroline Dutra Lacerda, Jamil Silvano de Oliveira, Marcelo Matos Santoro, Juliana Barbosa Coitinho, Alexandre Martins Costa Santos
The α-trypsin isoform is a globular protein that belongs to serine-protease family and has a polypeptide chain of 223 amino acid residues, six disulfide bridges and two domains with similar structures. The effects of aqueous-organic solvent (ethanol) in different concentration on the α-trypsin structure have been investigated by spectroscopic techniques and thermodynamic data analysis. The results from spectroscopic measurements, including far-UV Circular Dichroism, UV-vis absorption spectroscopy, intrinsic tryptophan fluorescence and dynamic light scattering (DLS) suggest the formation of partially folded states, instead of aggregate states, at high ethanol concentration (>60% v/v ethanol), with little loss of secondary structure, but with significant tertiary structure changes...
March 23, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28341999/immunological-memory-to-hyperphosphorylated-tau-in-asymptomatic-individuals
#2
Gabriel Pascual, Jehangir S Wadia, Xueyong Zhu, Elissa Keogh, Başak Kükrer, Jeroen van Ameijde, Hanna Inganäs, Berdien Siregar, Gerrard Perdok, Otto Diefenbach, Tariq Nahar, Imke Sprengers, Martin H Koldijk, Els C Brinkman-van der Linden, Laura A Peferoen, Heng Zhang, Wenli Yu, Xinyi Li, Michelle Wagner, Veronica Moreno, Julie Kim, Martha Costa, Kiana West, Zara Fulton, Lucy Chammas, Nancy Luckashenak, Lauren Fletcher, Trevin Holland, Carrie Arnold, R Anthony Williamson, Jeroen J Hoozemans, Adrian Apetri, Frederique Bard, Ian A Wilson, Wouter Koudstaal, Jaap Goudsmit
Several reports have described the presence of antibodies against Alzheimer's disease-associated hyperphosphorylated forms of tau in serum of healthy individuals. To characterize the specificities that can be found, we interrogated peripheral IgG(+) memory B cells from asymptomatic blood donors for reactivity to a panel of phosphorylated tau peptides using a single-cell screening assay. Antibody sequences were recovered, cloned, and expressed as full-length IgGs. In total, 52 somatically mutated tau-binding antibodies were identified, corresponding to 35 unique clonal families...
March 24, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28338967/thought-disorder-in-schizophrenia-and-bipolar-disorder-probands-their-relatives-and-nonpsychiatric-controls
#3
Charity J Morgan, Michael J Coleman, Ayse Ulgen, Lenore Boling, Jonathan O Cole, Frederick V Johnson, Jan Lerbinger, J Alexander Bodkin, Philip S Holzman, Deborah L Levy
Thought disorder (TD) has long been associated with schizophrenia (SZ) and is now widely recognized as a symptom of mania and other psychotic disorders as well. Previous studies have suggested that the TD found in the clinically unaffected relatives of SZ, schizoaffective and bipolar probands is qualitatively similar to that found in the probands themselves. Here, we examine which quantitative measures of TD optimize the distinction between patients with diagnoses of SZ and bipolar disorder with psychotic features (BP) from nonpsychiatric controls (NC) and from each other...
March 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28338862/family-aggregation-of-cardiovascular-disease-mortality-a-register-based-prospective-study-of-pooled-nordic-twin-cohorts
#4
Karri Silventoinen, Jacob Hjelmborg, Sören Möller, Samuli Ripatti, Axel Skythe, Emmi Tikkanen, Nancy L Pedersen, Patrik Ke Magnusson, Kaare Christensen, Jaakko Kaprio
Background: Familial factors play an important role in the variation of risk factors of cardiovascular diseases (CVD), but less is known about how they affect the risk of death from CVD. We estimated familial aggregation of CVD mortality for twins offering the maximum level of risk due to genetic and other familial factors. Methods: Altogether, 132 771 twin individuals, including 65 196 complete pairs from Denmark, Finland and Sweden born in 1958 or earlier, participated in this study...
February 28, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28334907/a-combinatorial-approach-to-identify-calpain-cleavage-sites-in-the-machado-joseph-disease-protein-ataxin-3
#5
Jonasz J Weber, Matthias Golla, Giambattista Guaitoli, Pimthanya Wanichawan, Stefanie N Hayer, Stefan Hauser, Ann-Christin Krahl, Maike Nagel, Sebastian Samer, Eleonora Aronica, Cathrine R Carlson, Ludger Schöls, Olaf Riess, Christian J Gloeckner, Huu P Nguyen, Jeannette Hübener-Schmid
Ataxin-3, the disease protein in Machado-Joseph disease, is known to be proteolytically modified by various enzymes including two major families of proteases, caspases and calpains. This processing results in the generation of toxic fragments of the polyglutamine-expanded protein. Although various approaches were undertaken to identify cleavage sites within ataxin-3 and to evaluate the impact of fragments on the molecular pathogenesis of Machado-Joseph disease, calpain-mediated cleavage of the disease protein and the localization of cleavage sites remained unclear...
March 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28330970/variation-in-family-experience-of-pediatric-inpatient-care-as-measured-by-child-hcahps
#6
Sara L Toomey, Marc N Elliott, Alan M Zaslavsky, David J Klein, Sifon Ndon, Shannon Hardy, Melody Wu, Mark A Schuster
BACKGROUND: Making national comparisons of family experience of inpatient pediatric care has been limited by the lack of a publicly available survey. The Agency for Healthcare Research and Quality and Centers for Medicare & Medicaid Services commissioned development of the Child Hospital Consumer Assessment of Healthcare Providers and Systems Survey to address this gap. Using Child Hospital Consumer Assessment of Healthcare Providers and Systems Survey, we measured performance of hospitals in a national field test...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28329324/age-related-biomarkers-in-llfs-families-with-exceptional-cognitive-abilities
#7
Sandra Barral, Jatinder Singh, Erin Fagan, Stephanie Cosentino, Stacy L Andersen-Toomey, Mary K Wojczynski, Mary Feitosa, Candace M Kammerer, Nicole Schupf
Background: We previously demonstrated familial aggregation of memory performance within the Long Life Family Study (LLFS), suggesting that exceptional cognition (EC) may contribute to their exceptional longevity. Here, we investigated whether LLFS families with EC may also exhibit more favorable profiles of other age-related biomarkers. Methods: Nondemented offspring of the LLFS probands scoring 1.5 SD above the mean in a cognitive phenotype were classified as participants with EC...
March 10, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28324667/gtpase-activating-protein-elmod2-is-essential-for-meiotic-progression-in-mouse-oocytes
#8
Chun-Xiang Zhou, Li-Ya Shi, Rui-Chao Li, Ya-Hong Liu, Bo-Qun Xu, Jin-Wei Liu, Bo Yuan, Zhi-Xia Yang, Xiao-Yan Ying, Dong Zhang
Meiotic failure in oocytes is the major determinant of human zygote-originated reproductive diseases, the successful accomplishment of meiosis largely relay on the normal functions of many female fertility factors. Elmod2 is a member of the Elmod family with the strongest GAP (GTPase-activating protein) activity; although it was identified as a possible maternal protein, its actual physiologic role in mammalian oocytes has not been elucidated. Herein we reported that among Elmod family proteins, Elmod2 is the most abundant in mouse oocytes, and that inhibition of Elmod2 by specific siRNA caused severe meiotic delay and abnormal chromosomal segregation during anaphase...
March 21, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28324300/%C3%AE-synuclein-and-parkinsonism-updates-and-future-perspectives
#9
REVIEW
Kaie Rosborough, Neha Patel, Lorraine V Kalia
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28321980/relationship-between-food-insecurity-child-weight-status-and-parent-reported-child-eating-and-snacking-behaviors
#10
Tanja V E Kral, Jesse Chittams, Reneé H Moore
PURPOSE: Prior studies showed that food insecurity may increase the odds of obesity in children and adults. We still know very little about the familial aggregation of obesity in food-insecure households or the mechanisms by which food insecurity confers an increased risk of obesity to children. The purpose of this study was to compare children and mothers from food-insecure and food-secure households in their weight status, child eating patterns/behaviors, and maternal feeding practices...
March 21, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28320321/evolution-of-group-i-introns-in-porifera-new-evidence-for-intron-mobility-and-implications-for-dna-barcoding
#11
Astrid Schuster, Jose V Lopez, Leontine E Becking, Michelle Kelly, Shirley A Pomponi, Gert Wörheide, Dirk Erpenbeck, Paco Cárdenas
BACKGROUND: Mitochondrial introns intermit coding regions of genes and feature characteristic secondary structures and splicing mechanisms. In metazoans, mitochondrial introns have only been detected in sponges, cnidarians, placozoans and one annelid species. Within demosponges, group I and group II introns are present in six families. Based on different insertion sites within the cox1 gene and secondary structures, four types of group I and two types of group II introns are known, which can harbor up to three encoding homing endonuclease genes (HEG) of the LAGLIDADG family (group I) and/or reverse transcriptase (group II)...
March 20, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28319463/solid-cancer-incidence-among-the-life-span-study-of-atomic-bomb-survivors-1958-2009
#12
Eric J Grant, Alina Brenner, Hiromi Sugiyama, Ritsu Sakata, Atsuko Sadakane, Mai Utada, Elizabeth K Cahoon, Caitlin M Milder, Midori Soda, Harry M Cullings, Dale L Preston, Kiyohiko Mabuchi, Kotaro Ozasa
This is the third analysis of solid cancer incidence among the Life Span Study (LSS) cohort of atomic bomb survivors in Hiroshima and Nagasaki, adding eleven years of follow-up data since the previously reported analysis. For this analysis, several changes and improvements were implemented, including updated dose estimates (DS02R1) and adjustment for smoking. Here, we focus on all solid cancers in aggregate. The eligible cohort included 105,444 subjects who were alive and had no known history of cancer at the start of follow-up...
March 20, 2017: Radiation Research
https://www.readbyqxmd.com/read/28306228/diagnosis-natural-history-and-management-in-vascular-ehlers-danlos-syndrome
#13
Peter H Byers, John Belmont, James Black, Julie De Backer, Michael Frank, Xavier Jeunemaitre, Diana Johnson, Melanie Pepin, Leema Robert, Lynn Sanders, Nigel Wheeldon
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28301478/retrotransposon-activation-contributes-to-neurodegeneration-in-a-drosophila-tdp-43-model-of-als
#14
Lisa Krug, Nabanita Chatterjee, Rebeca Borges-Monroy, Stephen Hearn, Wen-Wei Liao, Kathleen Morrill, Lisa Prazak, Nikolay Rozhkov, Delphine Theodorou, Molly Hammell, Josh Dubnau
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two incurable neurodegenerative disorders that exist on a symptomological spectrum and share both genetic underpinnings and pathophysiological hallmarks. Functional abnormality of TAR DNA-binding protein 43 (TDP-43), an aggregation-prone RNA and DNA binding protein, is observed in the vast majority of both familial and sporadic ALS cases and in ~40% of FTLD cases, but the cascade of events leading to cell death are not understood...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28296245/immunodominant-protein-mip_05962-from-mycobacterium-indicus-pranii-displays-chaperone-activity
#15
Ashish Sharma, M A Equbal, S Pandey, Javaid A Sheikh, Nasreen Z Ehtesham, Seyed E Hasnain, Tapan K Chaudhuri
Tuberculosis, a contagious disease of infectious origin is currently a major cause of deaths worldwide. Mycobacterium indicus pranii (MIP), a saprophytic non-pathogen and a potent immunomodulator is currently being investigated as an intervention against tuberculosis along with many other diseases with positive outcome. The apparent paradox of multiple chaperones in mycobacterial species and enigma about the cellular functions of the client proteins of these chaperones need to be explored. Chaperones are the known immunomodulators thus there is need to exploit the proteome of MIP for identification and characterization of putative chaperones...
March 10, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28292625/-candidatus-dichloromethanomonas-elyunquensis-gen-nov-sp-nov-a-dichloromethane-degrading-anaerobe-of-the-peptococcaceae-family
#16
Sara Kleindienst, Steven A Higgins, Despina Tsementzi, Gao Chen, Konstantinos T Konstantinidis, E Erin Mack, Frank E Löffler
Taxonomic assignments of anaerobic dichloromethane (DCM)-degrading bacteria remain poorly constrained but are important for understanding the microbial diversity of organisms contributing to DCM turnover in environmental systems. We describe the taxonomic classification of a novel DCM degrader in consortium RM obtained from pristine Rio Mameyes sediment. Phylogenetic analysis of full-length 16S rRNA gene sequences demonstrated that the DCM degrader was most closely related to members of the genera Dehalobacter and Syntrophobotulus, but sequence similarities did not exceed 94% and 93%, respectively...
December 21, 2016: Systematic and Applied Microbiology
https://www.readbyqxmd.com/read/28289557/acoustic-monitoring-indicates-a-correlation-between-calling-and-spawning-in-captive-spotted-seatrout-cynoscion-nebulosus
#17
Eric W Montie, Matt Hoover, Christopher Kehrer, Justin Yost, Karl Brenkert, Tim O'Donnell, Michael R Denson
BACKGROUND: Fish sound production is widespread throughout many families. Territorial displays and courtship are the most common reasons for fish sound production. Yet, there is still some questions on how acoustic signaling and reproduction are correlated in many sound-producing species. In the present study, our aim was to determine if a quantitative relationship exists between calling and egg deposition in captive spotted seatrout (Cynoscion nebulosus). This type of data is essential if passive acoustics is to be used to identify spawning aggregations over large spatial scales and monitor reproductive activity over annual and decadal timeframes...
2017: PeerJ
https://www.readbyqxmd.com/read/28289488/copper-ii-and-the-pathological-h50q-%C3%AE-synuclein-mutant-environment-meets-genetics
#18
COMMENT
Anna Villar-Piqué, Giulia Rossetti, Salvador Ventura, Paolo Carloni, Claudio O Fernández, Tiago Fleming Outeiro
Copper is one of the metals described to bind the Parkinson disease-related protein α-synuclein (aSyn), and to promote its aggregation. Although histidine at position 50 in the aSyn sequence is one of the most studied copper-anchoring sites, its precise role in copper binding and aSyn aggregation is still unclear. Previous studies suggested that this residue does not significantly affect copper-mediated aSyn aggregation. However, our findings showed that the aggregation of the pathological H50Q aSyn mutant is enhanced by copper hints otherwise...
2017: Communicative & Integrative Biology
https://www.readbyqxmd.com/read/28289378/synaptic-dysfunction-in-alzheimer-s-disease-and-glaucoma-from-common-degenerative-mechanisms-toward-neuroprotection
#19
REVIEW
Chiara Criscuolo, Carlotta Fabiani, Elisa Cerri, Luciano Domenici
Alzheimer's disease (AD) and glaucoma are two distinct multifactorial neurodegenerative diseases, primarily affecting the elderly. Common pathophysiological mechanisms have been elucidated in the past decades. First of all both diseases are progressive, with AD leading to dementia and glaucoma inducing blindness. Pathologically, they all feature synaptic dysfunction with changes of neuronal circuitry, progressive accumulation of protein aggregates such as the beta amyloid (Aβ) and intracellular microtubule inclusions containing hyperphosphorylated tau, which belongs to microtubule associated protein family...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28286471/cytoplasmic-relocalization-of-tar-dna-binding-protein-43-is-not-sufficient-to-reproduce-cellular-pathologies-associated-with-als-in-vitro
#20
Heike J Wobst, Steven S Wesolowski, Jayashree Chadchankar, Louise Delsing, Steven Jacobsen, Jayanta Mukherjee, Tarek Z Deeb, John Dunlop, Nicholas J Brandon, Stephen J Moss
Mutations in the gene TARDBP, which encodes TAR DNA-binding protein 43 (TDP-43), are a rare cause of familial forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While the majority of mutations are found in the C-terminal glycine-rich domain, an alanine to valine amino acid change at position 90 (A90V) in the bipartite nuclear localization signal (NLS) of TDP-43 has been described. This sequence variant has previously been shown to cause cytoplasmic mislocalization of TDP-43 and decrease protein solubility, leading to the formation of insoluble aggregates...
2017: Frontiers in Molecular Neuroscience
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