keyword
MENU ▼
Read by QxMD icon Read
search

familial aggregation

keyword
https://www.readbyqxmd.com/read/27916677/differential-copper-binding-to-alpha-synuclein-and-its-disease-associated-mutants-affect-the-aggregation-and-amyloid-formation
#1
Priyatosh Ranjan, Dhiman Ghosh, Deepthi S Yarramala, Subhadeep Das, Samir K Maji, Ashutosh Kumar
BACKGROUND: Copper is an essential trace element required for the proper functioning of various enzymes present in central nervous system. An imbalance in the copper homeostasis results in the pathology of various neurogenerative disorders including Parkinson's Disease. Hence, residue specific interaction of Cu(2+) to α-Syn along with the familial mutants H50Q and G51D needs to be studied in detail. METHODS: We investigated the residue specific mapping of Cu(2+) binding sites and binding strength using solution-state NMR and ITC respectively...
December 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27909051/the-chaperone-activity-and-substrate-spectrum-of-human-small-heat-shock-proteins
#2
Evgeny V Mymrikov, Marina Daake, Bettina Richter, Martin Haslbeck, Johannes Buchner
Small heat shock proteins (sHsps) are a ubiquitous family of molecular chaperones that suppress the unspecific aggregation of miscellaneous proteins. Multicellular organisms contain a large number of different sHsps, raising questions as to whether they function redundantly or are specialized in terms of substrates and mechanism. To gain insight into this issue, we undertook a comparative analysis of the 8 major human sHsps on the aggregation of both model proteins and cytosolic lysates under standardized conditions...
November 30, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27908501/prospective-evaluation-of-surgical-palliative-care-immersion-training-for-general-surgery-residents
#3
Mustafa Raoof, Lisa O'Neill, Leigh Neumayer, Mindy Fain, Robert Krouse
BACKGROUND: Palliative care competencies in surgical training are recognized to improve the care of surgical patients with advanced or life-threatening illnesses. Formal programs to teach these competencies are lacking. The study aims to assess the feasibility and utility of a unique surgical palliative care immersion training program. STUDY DESIGN: A half-day Surgical Palliative Care Immersion Training (SPCIT) was developed using the American College of Surgeon's manual titled "Surgical Palliative Care: A Resident's Guide" as a framework...
November 27, 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#4
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#5
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27902273/racemicystis-persica-sp-nov-a-novel-myxobacterium-from-iranian-soil
#6
Joachim Wink, Azam Moradi, Gholam Hosein Ebrahimipour, Kathrin Mohr, Peter Kämpfer, Stefanie Glaeser, Fabienne Hennessen, Katja Gemperlein, Awal Prasad Ram, Corinna Wolf, Rolf Müller
A novel myxobacterium, strain MSr11462T, was isolated in 2015 from a soil sample collected from Kish Island beach, Persian Gulf, Iran. It displayed general myxobacterial features like Gram negative staining, rod shaped vegetative cells, gliding on solid surfaces, microbial lytic activity, fruiting body like aggregates and myxospore like structures. The strain was mesophilic, aerobic and showed chemoheterotrophic mode of nutrition. It was resistant to many antibiotics like gentamycin, polymyxin, Fusidic acid and trimethopril and the key fatty acids of whole cell hydrolysates were iso-C15:0, C16:0, iso-C17:0, C18:1 , iso-C17:1 2-OH, C18:1 2-OH, iso-C15:0 OAG (O-alkylglycerol), and C16:1 OAG...
November 11, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27902209/fimbriiglobus-ruber-gen-nov-sp-nov-a-gemmata-like-planctomycete-from-sphagnum-peat-bog-and-the-proposal-of-gemmataceae-fam-nov
#7
Irina S Kulichevskaya, Anastasia A Ivanova, Olga I Baulina, W Irene C Rijpstra, Jaap S Sinninghe Damsté, Svetlana N Dedysh
An aerobic, budding, dark pink to red-pigmented bacterium was isolated from an acidic boreal Sphagnum peat bog and designated strain SP5T. Cells of this strain were non-motile spheres that were uniformly covered with crateriform pits and fimbria, and tended to form aggregates during growth in liquid media. Strain SP5T was capable of growth at pH values between 4.0 and 6.8 (optimum at pH 5.5-6.0) and at temperatures between 10 and 30oC (optimum 20-25oC). The preferred growth substrates were sugars and some heteropolysaccharides...
October 24, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27901499/genetic-characterization-of-esocid-herpesvirus-1-eshv1
#8
Jared T Freitas, Kuttichantran Subramaniam, Karen L Kelley, Susan Marcquenski, Joseph Groff, Thomas B Waltzek
Blue spot disease, believed to be caused by esocid herpesvirus 1 (EsHV1), has been observed in wild northern pike Esox lucius in a number of cold-water locations, including the northern USA, Canada, and Ireland. In the spring of 2014, a northern pike was caught in Wisconsin displaying the characteristic bluish-white circular plaques on the dorsum and fins. Microscopic examination of hematoxylin and eosin-stained sections of the proliferative cutaneous lesions revealed a focally extensive abundance of panepidermal, megalocytic keratinocytes with karyomegaly...
November 22, 2016: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/27901028/small-heat-shock-proteins-sequester-misfolding-proteins-in-near-native-conformation-for-cellular-protection-and-efficient-refolding
#9
Sophia Ungelenk, Fatemeh Moayed, Chi-Ting Ho, Tomas Grousl, Annette Scharf, Alireza Mashaghi, Sander Tans, Matthias P Mayer, Axel Mogk, Bernd Bukau
Small heat shock proteins (sHsp) constitute an evolutionary conserved yet diverse family of chaperones acting as first line of defence against proteotoxic stress. sHsps coaggregate with misfolded proteins but the molecular basis and functional implications of these interactions, as well as potential sHsp specific differences, are poorly explored. In a comparative analysis of the two yeast sHsps, Hsp26 and Hsp42, we show in vitro that model substrates retain near-native state and are kept physically separated when complexed with either sHsp, while being completely unfolded when aggregated without sHsps...
November 30, 2016: Nature Communications
https://www.readbyqxmd.com/read/27901000/endoplasmic-reticulum-stress-induces-the-early-appearance-of-pro-apoptotic-and-anti-apoptotic-proteins-in-neurons-of-five-familial-alzheimer-s-disease-mice
#10
Hui Shen, Xiao-Dong Pan, Jing Zhang, Yu-Qi Zeng, Meng Zhou, Lu-Meng Yang, Bing Ye, Xiao-Man Dai, Yuan-Gui Zhu, Xiao-Chun Chen
BACKGROUND: Amyloid β (Aβ) deposits and the endoplasmic reticulum stress (ERS) are both well established in the development and progression of Alzheimer's disease (AD). However, the mechanism and role of Aβ-induced ERS in AD-associated pathological progression remain to be elucidated. METHODS: The five familial AD (5×FAD) mice and wild-type (WT) mice aged 2, 7, and 12 months were used in the present study. Morris water maze test was used to evaluate their cognitive performance...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27899663/large-scale-analysis-of-microrna-expression-epi-transcriptomic-features-and-biogenesis
#11
Dimitrios M Vitsios, Matthew P Davis, Stijn van Dongen, Anton J Enright
MicroRNAs are important genetic regulators in both animals and plants. They have a range of functions spanning development, differentiation, growth, metabolism and disease. The advent of next-generation sequencing technologies has made it a relatively straightforward task to detect these molecules and their relative expression via sequencing. There are a large number of published studies with deposited datasets. However, there are currently few resources that capitalize on these data to better understand the features, distribution and biogenesis of miRNAs...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#12
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27895300/thsd1-thrombospondin-type-1-domain-containing-protein-1-mutation-in-the-pathogenesis-of-intracranial-aneurysm-and-subarachnoid-hemorrhage
#13
Teresa Santiago-Sim, Xiaoqian Fang, Morgan L Hennessy, Stephen V Nalbach, Steven R DePalma, Ming Sum Lee, Steven C Greenway, Barbara McDonough, Georgene W Hergenroeder, Kyla J Patek, Sarah M Colosimo, Krista J Qualmann, John P Hagan, Dianna M Milewicz, Calum A MacRae, Susan M Dymecki, Christine E Seidman, J G Seidman, Dong H Kim
BACKGROUND AND PURPOSE: A ruptured intracranial aneurysm (IA) is the leading cause of a subarachnoid hemorrhage. This study seeks to define a specific gene whose mutation leads to disease. METHODS: More than 500 IA probands and 100 affected families were enrolled and clinically characterized. Whole exome sequencing was performed on a large family, revealing a segregating THSD1 (thrombospondin type 1 domain containing protein 1) mutation. THSD1 was sequenced in other probands and controls...
December 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27892477/nanomolar-oligomerization-and-selective-co-aggregation-of-%C3%AE-synuclein-pathogenic-mutants-revealed-by-single-molecule-fluorescence
#14
Emma Sierecki, Nichole Giles, Quill Bowden, Mark E Polinkovsky, Janina Steinbeck, Nicholas Arrioti, Diya Rahman, Akshay Bhumkar, Philip R Nicovich, Ian Ross, Robert G Parton, Till Böcking, Yann Gambin
Protein aggregation is a hallmark of many neurodegenerative diseases, notably Alzheimer's and Parkinson's disease. Parkinson's disease is characterized by the presence of Lewy bodies, abnormal aggregates mainly composed of α-synuclein. Moreover, cases of familial Parkinson's disease have been linked to mutations in α-synuclein. In this study, we compared the behavior of wild-type (WT) α-synuclein and five of its pathological mutants (A30P, E46K, H50Q, G51D and A53T). To this end, single-molecule fluorescence detection was coupled to cell-free protein expression to measure precisely the oligomerization of proteins without purification, denaturation or labelling steps...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27891759/sociodemographic-correlates-and-family-aggregation-of-leukocyte-telomere-length-in-adults-and-children-from-mesoamerica
#15
Kerry S Flannagan, Erica C Jansen, Laura S Rozek, Katie M Rentschler, Ana Victoria Roman, Manuel Ramirez-Zea, Eduardo Villamor
OBJECTIVE: Telomere length is a biomarker of cumulative stress and inflammation related to chronic disease risk. We examined the associations of leukocyte telomere length (LTL) with sociodemographic and anthropometric variables and estimated LTL family aggregation in Central America, a region with a high burden of chronic disease where LTL has not been studied. METHODS: We conducted a cross-sectional study of 174 school age children and their parents in the capital cities of Belize, Honduras, Nicaragua, Costa Rica, Panama, and the city of Tuxtla-Gutierrez in Mexico...
November 28, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/27884506/family-abduction-in-a-national-sample-of-us-children
#16
David Finkelhor, Megan Henly, Heather Turner, Sherry Hamby
This study examined the prevalence and characteristics of family abduction episodes occurring in a nationally representative sample of US children ages 0-17. It drew on the experiences of 13,052 children and youth from the aggregation of three cross-sectional waves (2008, 2011, and 2014) of the National Surveys of Children Exposed to Violence. The overall prevalence rate was 4.1% for a lifetime and 1.2% for a past year episode. Rates were higher for younger than older children. Parents constituted 90% of the abductors with females outnumbering males 60% to 40%, although men outnumbered women as perpetrators for certain types of abductions...
November 21, 2016: Child Abuse & Neglect
https://www.readbyqxmd.com/read/27882542/a-novel-gain-of-function-mutation-in-orai1-causes-late-onset-tubular-aggregate-myopathy-and-congenital-miosis
#17
M Garibaldi, F Fattori, B Riva, C Labasse, G Brochier, P Ottaviani, S Sacconi, E Vizzaccaro, F Laschena, N B Romero, A Genazzani, E Bertini, G Antonini
We present three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1. All patients had a mild, late onset TAM revealed by asymptomatic creatine kinase (CK) elevation and congenital miosis consistent with a Stormorken-like Syndrome, in the absence of thrombocytopathy. Muscle biopsies showed classical histological findings but ultrastructural analysis revealed atypical tubular aggregates (TAs). The whole body muscle magnetic resonance imaging (MRI) showed a similar pattern of muscle involvement that correlated with clinical severity...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27872260/familial-aggregation-and-heritability-of-schizophrenia-and-co-aggregation-of-psychiatric-illnesses-in-affected-families
#18
I-Jun Chou, Chang-Fu Kuo, Yu-Shu Huang, Matthew J Grainge, Ana M Valdes, Lai-Chu See, Kuang-Hui Yu, Shue-Fen Luo, Lu-Shuang Huang, Wen-Yi Tseng, Weiya Zhang, Michael Doherty
Strong familial aggregation of schizophrenia has been reported but there is uncertainty concerning the degree of genetic contribution to the phenotypic variance of the disease. This study aimed to examine the familial aggregation and heritability of schizophrenia, and the relative risks (RRs) of other psychiatric diseases, in relatives of people with schizophrenia using the Taiwan National Health Insurance Database. The study population included individuals with affected first-degree or second-degree relatives identified from all beneficiaries (n = 23 422 955) registered in 2013...
November 21, 2016: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/27872184/functional-variants-in-the-sucrase-isomaltase-gene-associate-with-increased-risk-of-irritable-bowel-syndrome
#19
Maria Henström, Lena Diekmann, Ferdinando Bonfiglio, Fatemeh Hadizadeh, Eva-Maria Kuech, Maren von Köckritz-Blickwede, Louise B Thingholm, Tenghao Zheng, Ghazaleh Assadi, Claudia Dierks, Martin Heine, Ute Philipp, Ottmar Distl, Mary E Money, Meriem Belheouane, Femke-Anouska Heinsen, Joseph Rafter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Susanna Walter, Magnus Simrén, Pontus Karling, Bodil Ohlsson, Peter T Schmidt, Greger Lindberg, Aldona Dlugosz, Lars Agreus, Anna Andreasson, Emeran Mayer, John F Baines, Lars Engstrand, Piero Portincasa, Massimo Bellini, Vincenzo Stanghellini, Giovanni Barbara, Lin Chang, Michael Camilleri, Andre Franke, Hassan Y Naim, Mauro D'Amato
OBJECTIVE: IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase-isomaltase (SI) gene variants for their potential relevance in IBS. DESIGN: We sequenced SI exons in seven familial cases, and screened four CSID mutations (p...
November 21, 2016: Gut
https://www.readbyqxmd.com/read/27871378/deciphering-the-factors-defining-the-ph-dependence-of-a-commercial-glycoside-hydrolase-family-8-enzyme
#20
Mário Barroca, Gustavo Santos, Björn Johansson, Florian Gillotin, Georges Feller, Tony Collins
A prerequisite to the use of any enzyme in any industrial process is an understanding of its activity and stability under process conditions. Glycoside hydrolase family 8 enzymes include many important biotechnological biocatalysts yet little is known of the performance of these with respect to pH. A better understanding of this parameter and its relationship to structure and function in these enzymes will allow for an improved use of these in industry as well as an enhanced ability in their engineering and optimisation for a particular application...
January 2017: Enzyme and Microbial Technology
keyword
keyword
52610
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"