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https://www.readbyqxmd.com/read/28428079/mineralization-inhibiting-effects-of-transglutaminase-crosslinked-polymeric-osteopontin
#1
Betty Hoac, Valentin Nelea, Wenge Jiang, Mari T Kaartinen, Marc D McKee
Osteopontin (OPN) belongs to the SIBLING family (Small, Integrin-Binding LIgand N-linked Glycoproteins) of mineral-binding matrix proteins found in bones and teeth. OPN is a well-known inhibitor of matrix mineralization, and enzymatic modification of OPN can affect this inhibitory function. In bone, OPN exists both as a monomer and as a high-molecular-weight polymer - the latter is formed by transglutaminase-mediated crosslinking of glutamine and lysine residues in OPN to create homotypic protein assemblies...
April 17, 2017: Bone
https://www.readbyqxmd.com/read/28426203/tyrosine-kinase-activation-and-conformational-flexibility-lessons-from-src-family-tyrosine-kinases
#2
Yilin Meng, Matthew P Pond, Benoît Roux
Protein kinases are enzymes that catalyze the covalent transfer of the γ-phosphate of an adenosine triphosphate (ATP) molecule onto a tyrosine, serine, threonine, or histidine residue in the substrate and thus send a chemical signal to networks of downstream proteins. They are important cellular signaling enzymes that regulate cell growth, proliferation, metabolism, differentiation, and migration. Unregulated protein kinase activity is often associated with a wide range of diseases, therefore making protein kinases major therapeutic targets...
April 20, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28420962/dysregulation-of-rna-binding-protein-aggregation-in-neurodegenerative-disorders
#3
REVIEW
Brandon Maziuk, Heather I Ballance, Benjamin Wolozin
The unique biology of RNA binding proteins is altering our view of the genesis of protein misfolding diseases. These proteins use aggregation of low complexity domains (LCDs) as a means to regulate the localization and utilization of RNA by forming RNA granules, such as stress granules, transport granules and P-bodies. The reliance on reversible aggregation as a mechanism for biological regulation renders this family of proteins highly vulnerable to promoting diseases of protein misfolding. Mutations in RNA binding proteins are associated with many neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28418227/barriers-and-facilitators-to-implementing-family-support-and-education-in-early-psychosis-intervention-programmes-a-systematic-review
#4
REVIEW
Avra Selick, Janet Durbin, Nhi Vu, Karen O'Connor, Tiziana Volpe, Elizabeth Lin
Family support is a core component of the Early Psychosis Intervention (EPI) model, yet it continues to have relatively low rates of implementation in practice. This paper reports results of a literature review on facilitators and barriers to delivering family interventions in EPI programmes. A search was conducted of 4 electronic databases, Medline, EMBASE, PsycINFO and Joanna Briggs, from 2000 to 2015 using terms related to early onset psychosis, family work and implementation. Four thousand four hundred and two unique studies were identified, 7 of which met inclusion criteria...
April 18, 2017: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/28416733/factors-associated-with-multi-disciplinary-case-conference-outcomes-in-children-admitted-to-a-regional-hospital-in-hong-kong-with-suspected-child-abuse-a-retrospective-case-series-with-internal-comparison
#5
W C Lo, G Pg Fung, P Ch Cheung
INTRODUCTION: In all cases of suspected child abuse, accurate risk assessment is vital to guide further management. This study examined the relationship between risk factors in a risk assessment matrix and child abuse case conference outcomes. METHODS: Records of all children hospitalised at United Christian Hospital in Hong Kong for suspected child abuse from January 2012 to December 2014 were reviewed. Outcomes of the hospital abuse work-up as concluded in the Multi-Disciplinary Case Conference were categorised as 'established', 'high risk', or 'not established'...
April 18, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28416701/defective-synaptic-connectivity-and-axonal-neuropathology-in-a-human-ipsc-based-model-of-familial-parkinson-s-disease
#6
Georgia Kouroupi, Era Taoufik, Ioannis S Vlachos, Konstantinos Tsioras, Nasia Antoniou, Florentia Papastefanaki, Dafni Chroni-Tzartou, Wolfgang Wrasidlo, Delphine Bohl, Dimitris Stellas, Panagiotis K Politis, Kostas Vekrellis, Dimitra Papadimitriou, Leonidas Stefanis, Piotr Bregestovski, Artemis G Hatzigeorgiou, Eliezer Masliah, Rebecca Matsas
α-Synuclein (αSyn) is the major gene linked to sporadic Parkinson's disease (PD), whereas the G209A (p.A53T) αSyn mutation causes a familial form of PD characterized by early onset and a generally severe phenotype, including nonmotor manifestations. Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau...
April 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28416393/tdp-43-expression-influences-amyloid%C3%AE-plaque-deposition-and-tau-aggregation
#7
Stephani A Davis, Kok Ann Gan, James A Dowell, Nigel J Cairns, Michael A Gitcho
Although the main focus in Alzheimer's disease (AD) has been an investigation of mechanisms causing Aβ plaque deposition and tau tangle formation, recent studies have shown that phosphorylated TDP-43 pathology is present in up to 50% of sporadic cases. Furthermore, elevated phosphorylated TDP-43 has been associated with more severe AD pathology. Therefore, we hypothesized that TDP-43 may regulate amyloid-beta precursor protein (APP) trafficking and tau phosphorylation/aggregation. In order to examine the role of TDP-43 in AD, we developed a transgenic mouse that overexpresses hippocampal and cortical neuronal TDP-43 in a mouse expressing familial mutations (K595N and M596L) in APP and presenilin 1 (PSEN1ΔE9)...
April 14, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28412690/epidemiological-characteristics-and-clinical-features-of-sporadic-viral-hepatitis-e-hev
#8
Rongrong Liu, Min Liu, Chengrui Geng, Yunmei Zou, Tong Jiao, Lijuan Li Lijuan Li
OBJECTIVE: The study aims to analyze the epidemiological characteristics and clinical features of sporadic viral hepatitis E. METHODS: The 1,000 cases of sporadic viral hepatitis E patients treated in 20 hospitals from May 2013 to May 2016 were selected as research subjects, with their clinical data retrospectively analyzed. RESULTS: (1) Epidemiological characteristics: Seen from the disease time, the 1,000 patients have morbidity throughout the year, but morbidity in hot and rainy summer is significantly higher than other seasons, there exists statistically difference in comparison between the groups (P<0...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28409495/antiplatelet-and-anti-proliferative-action-of-disintegrin-from-echis-multisquamatis-snake-venom
#9
Volodymyr Chernyshenko, Natalia Petruk, Darya Korolova, Ludmila Kasatkina, Olha Gornytska, Tetyana Platonova, Tamara Chernyshenko, Andriy Rebriev, Olena Dzhus, Liudmyla Garmanchuk, Eduard Lugovskoy
AIM: To purify the platelet aggregation inhibitor from Echis multisquamatis snake venom (PAIEM) and characterize its effect on platelet aggregation and HeLa cell proliferation. METHODS: Sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and matrix assisted laser desorption/ionization time-of-flight (MALDI-TOF) were used for PAIEM identification. Platelet aggregation in the presence of PAIEM was studied on aggregometer Solar-AP2110. The changes of shape and granularity of platelets in the presence of PAIEM were studied on flow cytometer COULTER EPICS XL, and degranulation of platelets was estimated using spectrofluorimetry...
April 14, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28404662/slc25-family-member-genetic-interactions-identify-a-role-for-hem25-in-yeast-electron-transport-chain-stability
#10
J Noelia Dufay, J Pedro Fernández-Murray, Christopher R McMaster
The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis. Mutations in the human SLC25A38 gene cause congenital sideroblastic anemia. The full extent to which SLC25 family members co-regulate heme synthesis with other mitochondrial functions is not clear. In this study, we surveyed 29 non-essential SLC25 family members in Saccharomyces cerevisiae for their ability to support growth in the presence and absence of HEM25...
April 12, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28400718/rab-gtpases-the-key-players-in-the-molecular-pathway-of-parkinson-s-disease
#11
REVIEW
Meng-Meng Shi, Chang-He Shi, Yu-Ming Xu
Parkinson's disease (PD) is a progressive movement disorder with multiple non-motor symptoms. Although family genetic mutations only account for a small proportion of the cases, these mutations have provided several lines of evidence for the pathogenesis of PD, such as mitochondrial dysfunction, protein misfolding and aggregation, and the impaired autophagy-lysosome system. Recently, vesicle trafficking defect has emerged as a potential pathogenesis underlying this disease. Rab GTPases, serving as the core regulators of cellular membrane dynamics, may play an important role in the molecular pathway of PD through the complex interplay with numerous factors and PD-related genes...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28399723/germline-heterozygous-variants-in-genes-associated-with-familial-hemophagocytic-lymphohistiocytosis-as-a-cause-of-increased-bleeding
#12
Marcus Fager Ferrari, Eva Leinoe, Maria Rossing, Eva Norström, Karin Strandberg, Tobias Steen Sejersen, Klaus Qvortrup, Eva Zetterberg
Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3-5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised platelet function. Therefore, we aimed to investigate platelet degranulation in patients heterozygous for variants in UNC13D, STX11 and STXBP2. During the work-up of patients referred to the Coagulation Unit, Skåne University Hospital, Malmö, Sweden and the Department of Hematology, Rigshospitalet, Copenhagen, Denmark due to bleeding tendencies, 12 patients harboring heterozygous variants in UNC13D, STX11 or STXBP2 were identified using targeted whole exome sequencing...
April 11, 2017: Platelets
https://www.readbyqxmd.com/read/28396906/the-lausanne-geneva-cohort-study-of-offspring-of-parents-with-mood-disorders-methodology-findings-current-sample-characteristics-and-perspectives
#13
Caroline L Vandeleur, Marie-Pierre F Strippoli, Enrique Castelao, Mehdi Gholam-Rezaee, François Ferrero, Pierre Marquet, Jean-Michel Aubry, Martin Preisig
PURPOSE: Studies focusing on the offspring of affected parents utilize the well-established familial aggregation of mood disorders as a powerful tool for the identification of risk factors, early clinical manifestations, and prodromes of mood disorders in these offspring. The major goals of the Lausanne-Geneva mood cohort study are to: (1) assess the familial aggregation of bipolar and unipolar mood disorders; (2) prospectively identify risk factors for mood disorders as well as their early signs and prodromes; (3) identify their endophenotypes including cognitive features, alterations in brain structure, HPA-axis dysregulation, and abnormalities of the circadian rhythm of activity...
April 10, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28393239/psoriasin-promotes-invasion-aggregation-and-survival-of-pancreatic-cancer-cells-association-with-disease-progression
#14
Ying Liu, Carly Bunston, Nicholas Hodson, Jeyna Resaul, Ping-Hui Sun, Shuo Cai, Gang Chen, Yanan Gu, Lucy K Satherley, David C Bosanquet, Bilal Al-Sarireh, Xiuyun Tian, Chunyi Hao, Wen G Jiang, Lin Ye
Psoriasin (S100A7) is an 11-kDa small calcium binding protein initially isolated from psoriatic skin lesions. It belongs to the S100 family of proteins which play an important role in a range of cell functions including proliferation, differentiation, migration and apoptosis. Aberrant Psoriasin expression has been implicated in a range of cancers and is often associated with poor prognosis. This study examined the role of Psoriasin on pancreatic cancer cell functions and the implication in progression of the disease...
May 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28392444/spatiotemporal-spread-of-grapevine-red-blotch-associated-virus-in-a-california-vineyard
#15
Elizabeth J Cieniewicz, Sarah J Pethybridge, Adrienne Gorny, Laurence V Madden, Heather McLane, Keith L Perry, Marc Fuchs
Grapevine red blotch-associated virus (GRBaV), the causative agent of red blotch disease, is a member of the genus Grablovirus, in the family Geminiviridae and the first known geminivirus of Vitis spp. Limited information is available on the epidemiology of red blotch disease. A 2-hectare Vitis vinifera cv. 'Cabernet franc' vineyard in Napa County, California, USA was selected for monitoring GRBaV spread over a three-year period (2014-2016) based on an initially low disease incidence and an aggregation of symptomatic vines at the edge of the vineyard proximal to a wooded riparian area...
April 6, 2017: Virus Research
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#16
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28389567/large-scale-analysis-of-variation-in-the-insulin-like-growth-factor-family-in-humans-reveals-rare-disease-links-and-common-polymorphisms
#17
Peter Rotwein
The insulin-like growth factors IGF1 and IGF2 are closely related proteins that are essential for normal growth and development in humans and other species and play critical roles in many physiological and patho-physiological processes. IGF actions are mediated by trans-membrane receptors and modulated by IGF binding proteins. The importance of IGF actions in human physiology is strengthened by the rarity of inactivating mutations in their genes, and by the devastating impact caused by such mutations on normal development and somatic growth...
April 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28389202/interaction-of-saponin-1688-with-phase-separated-lipid-bilayers
#18
Maohui Chen, Vinod Balhara, Ana Maria Jaimes Castillo, John Balsevich, Linda J Johnston
Saponins are a diverse family of naturally occurring plant triterpene or steroid glycosides that have a wide range of biological activities. They have been shown to permeabilize membranes and in some cases membrane disruption has been hypothesized to involve saponin/cholesterol complexes. We have examined the interaction of steroidal saponin 1688-1 with lipid membranes that contain cholesterol and have a mixture of liquid-ordered (Lo) and liquid-disordered (Ld) phases as a model for lipid rafts in cellular membranes...
April 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28386644/mutational-profiling-in-the-peripheral-blood-leukocytes-of-patients-with-systemic-mast-cell-activation-syndrome-using-next-generation-sequencing
#19
Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M Nöthen, Heide Fier, Gerhard J Molderings
Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and a relatively large MCAS cohort. We also addressed the question, whether some of the previously as somatic reported mutations are indeed germline mutations...
April 6, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28384804/exploring-expressive-communication-skills-in-a-cross-sectional-sample-of-children-and-young-adults-with-angelman-syndrome
#20
Emily D Quinn, Charity Rowland
Purpose: This study explores data on expressive communication skills of 300 individuals aged 0.0-21.11 years with Angelman syndrome (AS). These data provide a composite portrait of communication skills in a large sample of children and young adults with this rare disorder, specifying new detailed information about expressive communication. Method: The database associated with the Communication Matrix assessment (Rowland, 2004, 2011; Rowland & Fried-Oken, 2010) was mined for data regarding individuals with AS...
April 6, 2017: American Journal of Speech-language Pathology
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