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familial aggregation

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https://www.readbyqxmd.com/read/29776336/phylogenomic-analysis-of-apoidea-sheds-new-light-on-the-sister-group-of-bees
#1
Manuela Sann, Oliver Niehuis, Ralph S Peters, Christoph Mayer, Alexey Kozlov, Lars Podsiadlowski, Sarah Bank, Karen Meusemann, Bernhard Misof, Christoph Bleidorn, Michael Ohl
BACKGROUND: Apoid wasps and bees (Apoidea) are an ecologically and morphologically diverse group of Hymenoptera, with some species of bees having evolved eusocial societies. Major problems for our understanding of the evolutionary history of Apoidea have been the difficulty to trace the phylogenetic origin and to reliably estimate the geological age of bees. To address these issues, we compiled a comprehensive phylogenomic dataset by simultaneously analyzing target DNA enrichment and transcriptomic sequence data, comprising 195 single-copy protein-coding genes and covering all major lineages of apoid wasps and bee families...
May 18, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29772195/common-grounds-for-family-maladies
#2
Konrad Oexle, Juliane Winkelmann
Rare variants cause Mendelian family aggregation in subsets of common diseases, and common variants may contribute to rare diseases. In this issue of Neuron, Gormley et al. (2018) report that the common variant burden in familial migraine is larger than in migraine of the general population.
May 16, 2018: Neuron
https://www.readbyqxmd.com/read/29771508/comparison-of-kinetics-toxicity-oligomers-formation-and-membrane-binding-capacity-of-%C3%AE-synuclein-familial-mutations-at-a53-site-including-newly-discovered-a53v-mutation
#3
Ganesh M Mohite, Rakesh Kumar, Rajlaxmi Panigrahi, Ambuja Navalkar, Nitu Singh, Debalina Datta, Surabhi Mehra, Soumik Ray, Laxmikant G Gadhe, Subhadeep Das, Namrata Singh, Debdeep Chatterjee, Ashutosh Kumar, Samir K Maji
The involvement of α-synuclein (α-Syn) amyloid formation in Parkinson's disease (PD) pathogenesis is supported by the discovery of α-Syn gene (SNCA) mutations linked with familial PD, which are known to modulate the oligomerization and aggregation of α-Syn. Recently, the A53V mutation has been discovered, which leads to the late-onset PD. In the present study, we characterized for the first time the biophysical properties including the aggregation propensities, toxicity of aggregated species and membrane binding capability of A53V along with all familial mutations at A53 position...
May 17, 2018: Biochemistry
https://www.readbyqxmd.com/read/29767197/aie-active-boron-complexes-based-on-benzothiazole-hydrazone-chelates
#4
Wenzeng Duan, Qingsong Liu, Yanmin Huo, Jichun Cui, Shuwen Gong, Zhipeng Liu
A new family of aggregation-induced emission (AIE)-active monoboron and bisboron complexes based on benzothiazole-hydrazone chelates was synthesized. These complexes showed very weak fluorescence in fluid solution due to active intramolecular rotation and were emissive in high-viscosity solvents or in the aggregation state. Single crystal X-ray diffraction analyses and theoretical calculations were carried out to explain AIE behavior. The large Stokes shifts (3590-7400 cm-1) and relatively highly efficient solid-state emission make these complexes valuable AIE luminophores for further potential applications...
May 16, 2018: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/29762014/selective-and-sensitive-pull-down-of-amyloid-fibrils-produced-in-vitro-and-in-vivo-by-the-use-of-pentameric-thiophene-coupled-resins
#5
Anna Beatriz Wreden, Luiza Fernandes, Mirian Kelley, Antônio Pereira-Neves, Caroline S Moreira, David R da Rocha, Fernando L Palhano
Protein aggregation is a hallmark of several degenerative diseases, including Alzheimer's disease, Parkinson's disease and familial amyloidosis (Finnish type) (FAF). A method to isolate and detect amyloids is desired for the diagnosis of amyloid diseases. Here, we report the synthesis of pentameric thiophene amyloid ligand (p-FTAA) linked to agarose resin for selective purification of amyloid aggregates produced in vitro and in vivo. Using amyloid fibrils produced in vitro from alpha-synuclein, gelsolin and Aβ1-40 and gelsolin amyloid aggregates extracted from tissue homogenates of a mouse model of FAF, we observed that p-FTAA resin was able to pull down amyloid aggregates...
May 15, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29761599/analysis-of-the-exome-aggregation-consortium-exac-database-suggests-that-the-bap1-tumor-predisposition-syndrome-is-underreported-in-cancer-patients
#6
James B Massengill, Klarke M Sample, Robert Pilarski, Joseph McElroy, Frederick H Davidorf, Colleen M Cebulla, Mohamed H Abdel-Rahman
The BAP1-tumor predisposition syndrome (BAP1-TPDS) has been recently identified to predispose patients to a variety of cancers and preneoplastic lesions. About 130 unrelated probands have been identified worldwide; however, the impact of the syndrome is suspected to be much larger given the diversity of the cancer phenotype. To evaluate the frequency of germline BAP1 mutations in the general and cancer populations, we analyzed the Exome Aggregation Consortium (ExAC), a database that contains 53105 exomes of unrelated individuals unaffected by cancer (general population) and exomes of 7601 unrelated individuals affected by cancer provided by the Cancer Genome Atlas (TCGA, cancer subjects)...
May 15, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29761480/whole-exome-sequencing-identifies-plec-exo5-and-dnah7-as-novel-susceptibility-genes-in-testicular-cancer
#7
Beatriz Paumard-Hernández, Oriol Calvete, Lucia Inglada Pérez, Héctor Tejero, Fátima Al-Shahrour, Guillermo Pita, Alicia Barroso, Juan Carlos Triviño, Miguel Urioste, Claudia Valverde, Enrique González Billalabeitia, Vanesa Quiroga, Juan Francisco Rodríguez Moreno, Antonio Fernández Aramburo, Cristina López, Pablo Maroto, Javier Sastre, María José Juan Fita, Ignacio Duran, Isabel Lorenzo-Lorenzo, Patricia Iranzo, Xavier García Del Muro, Silverio Ros, Francisco Zambrana, Ana María Autran, Javier Benítez
Testicular germ cell tumors (TGCTs) are a clinically and pathologically heterogeneous disease, and little is known of its genetic basis. Only low susceptibility risk loci have been identified for both sporadic and familial cases. Therefore, we tried to identify new susceptibility genes responsible for familial testicular cancer that may contribute to increasing our knowledge about the genetic basis of the disease. Nineteen Spanish families with at least two affected individuals with TGCT were selected. WES was performed on those individuals using an Illumina Hiseq2000 sequencing platform...
May 15, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29760078/chaperone-ampylation-modulates-aggregation-and-toxicity-of-neurodegenerative-disease-associated-polypeptides
#8
Matthias C Truttmann, David Pincus, Hidde L Ploegh
Proteostasis is critical to maintain organismal viability, a process counteracted by aging-dependent protein aggregation. Chaperones of the heat shock protein (HSP) family help control proteostasis by reducing the burden of unfolded proteins. They also oversee the formation of protein aggregates. Here, we explore how AMPylation, a posttranslational protein modification that has emerged as a powerful modulator of HSP70 activity, influences the dynamics of protein aggregation. We find that adjustments of cellular AMPylation levels in Caenorhabditis elegans directly affect aggregation properties and associated toxicity of amyloid-β (Aβ), of a polyglutamine (polyQ)-extended polypeptide, and of α-synuclein (α-syn)...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29758173/lack-of-genotype-phenotype-correlation-in-families-who-had-brugada-syndrome-and-sudden-arrhythmic-death-syndrome-with-reported-pathogenic-scn1b-variants
#9
Belinda Gray, Can Hasdemir, Jodie Ingles, Takeshi Aiba, Naomasa Makita, Vincent Probst, Arthur A M Wilde, Ruth Newbury-Ecob, Mary N Sheppard, Christopher Semsarian, Raymond W Sy, Elijah R Behr
BACKGROUND: There is limited evidence that Brugada syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or sudden arrhythmic death syndrome (SADS). OBJECTIVE: We sought to characterize the genotype-phenotype correlation in families who had BrS and SADS with reportedly pathogenic SCN1B variants and to review their pathogenicity. METHODS: Families with BrS and SADS were assessed from 6 inherited arrhythmia centers worldwide, and a comprehensive literature review was performed...
May 3, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29754824/cnox-is-a-chaperedoxin-a-holdase-that-protects-its-substrates-from-irreversible-oxidation
#10
Camille V Goemans, Didier Vertommen, Rym Agrebi, Jean-François Collet
Bleach (HOCl) is a powerful oxidant that kills bacteria in part by causing protein aggregation. It inactivates ATP-dependent chaperones, rendering cellular proteins mostly dependent on holdases. Here we identified Escherichia coli CnoX (YbbN) as a folding factor that, when activated by bleach via chlorination, functions as an efficient holdase, protecting the substrates of the major folding systems GroEL/ES and DnaK/J/GrpE. Remarkably, CnoX uniquely combines this function with the ability to prevent the irreversible oxidation of its substrates...
May 17, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29754433/unsung-heroes-flying-blind-a-metasynthesis-of-parents-experiences-of-caring-for-children-with-special-health-care-needs-at-home
#11
Carina Nygård, Anne Clancy
AIMS AND OBJECTIVES: To aggregate, synthesize and interpret qualitative research studies of parents' experiences of caring for a child with special health care needs at home. BACKGROUND: Advances in the field of medical and nursing science have ensured better survival rates for children with chronic illnesses. Many of these children have significant special health care needs. Today parents assume a caregiver role, undertaking tasks previously provided by nurses in hospitals...
May 13, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29753700/spectrum-and-prevalence-of-genetic-predisposition-in-medulloblastoma-a-retrospective-genetic-study-and-prospective-validation-in-a-clinical-trial-cohort
#12
Sebastian M Waszak, Paul A Northcott, Ivo Buchhalter, Giles W Robinson, Christian Sutter, Susanne Groebner, Kerstin B Grund, Laurence Brugières, David T W Jones, Kristian W Pajtler, A Sorana Morrissy, Marcel Kool, Dominik Sturm, Lukas Chavez, Aurelie Ernst, Sebastian Brabetz, Michael Hain, Thomas Zichner, Maia Segura-Wang, Joachim Weischenfeldt, Tobias Rausch, Balca R Mardin, Xin Zhou, Cristina Baciu, Christian Lawerenz, Jennifer A Chan, Pascale Varlet, Lea Guerrini-Rousseau, Daniel W Fults, Wiesława Grajkowska, Peter Hauser, Nada Jabado, Young-Shin Ra, Karel Zitterbart, Suyash S Shringarpure, Francisco M De La Vega, Carlos D Bustamante, Ho-Keung Ng, Arie Perry, Tobey J MacDonald, Pablo Hernáiz Driever, Anne E Bendel, Daniel C Bowers, Geoffrey McCowage, Murali M Chintagumpala, Richard Cohn, Timothy Hassall, Gudrun Fleischhack, Tone Eggen, Finn Wesenberg, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V Andersen, Martin Röösli, Claudia E Kuehni, Michael Grotzer, Kristina Kjaerheim, Camelia M Monoranu, Tenley C Archer, Elizabeth Duke, Scott L Pomeroy, Redmond Shelagh, Stephan Frank, David Sumerauer, Wolfram Scheurlen, Marina V Ryzhova, Till Milde, Christian P Kratz, David Samuel, Jinghui Zhang, David A Solomon, Marco Marra, Roland Eils, Claus R Bartram, Katja von Hoff, Stefan Rutkowski, Vijay Ramaswamy, Richard J Gilbertson, Andrey Korshunov, Michael D Taylor, Peter Lichter, David Malkin, Amar Gajjar, Jan O Korbel, Stefan M Pfister
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED)...
May 9, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29752296/melatonin-attenuates-postovulatory-oocyte-dysfunction-by-regulating-sirt1-expression
#13
Qingling Yang, Shanjun Dai, Xiaoyan Luo, Jing Zhu, Fangyuan Li, Jinhao Liu, Guidong Yao, Yingpu Sun
The quality of postovulatory metaphase II oocytes undergoes a time-dependent deterioration as a result of the aging process. Melatonin is considered an anti-aging agent. However, the underlying mechanisms of how melatonin improves the quality of postovulatory aged oocytes remain largely unclear. In this study, by using mouse model, we found that there were elevated ROS levels and impaired mitochondrial function demonstrated by reduced mitochondrial membrane potential (ΔΨm) and increased mitochondrial aggregation in oocytes aged 24 h, accompanied by an increased number of meiotic errors, unregulated autophagy-related proteins and early apoptosis, which led to decreased oocyte quality and disrupted developmental competence...
May 11, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29751083/the-amyloidogenicity-of-a-c-terminal-region-of-tdp-43-implicated-in-amyotrophic-lateral-sclerosis-can-be-affected-by-anions-acetylation-and-homodimerization
#14
Archana Prasad, Vishwanath Sivalingam, Vidhya Bharathi, Amandeep Girdhar, Basant K Patel
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease associated with accumulation of hyper-phosphorylated, and ubiquitinated TAR DNA-binding protein-43 (TDP-43) as inclusion deposits in neuronal cells. Recently, amyloid-like fibrillar aggregates of TDP-43 have been reported from several ALS patients. The C-terminal region of TDP-43 is central to TDP-43's pathological aggregation and most of the familial ALS mutations in the encoding TARDBP gene are located in this domain. Also, aberrant proteolytic cleavages of TDP-43 produce cytotoxic C-terminal fragments of ∼15-35 kDa...
May 8, 2018: Biochimie
https://www.readbyqxmd.com/read/29749730/controllable-synthesis-and-catalytic-performance-of-nanocrystals-of-rare-earth-polyoxometalates
#15
Shujun Li, Yanfang Zhou, Qingpo Peng, Ruoya Wang, Xiaoge Feng, Shuxia Liu, Xiaoming Ma, Nana Ma, Jie Zhang, Yi Chang, Zhiping Zheng, Xuenian Chen
Large-scale isolation of nanocrystals of rare-earth-polyoxometalates (RE-POMs) catalysts is important in fundamental research and applications. Here, we synthesized a family of monomeric RE-POMs by the self-assembly of Ta/W mixed-addendum POM {P2 W15 Ta3 O62 } and rare-earth (RE) ions. These RE-POMs with molecular formulas of [RE(H2 O)7 ]3 P2 W15 Ta3 O62 · nH2 O (RE = Y, Eu, Gd, Tb, Dy, Ho, Er, Tm, Yb, and Lu) are all electroneutral molecular clusters, insoluble in water and common organic solvents. The electronic structures, electrochemical properties, and catalytic activities of them have been investigated by experimental and computational methods...
May 11, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29745176/-species-composition-structure-and-spatial-distribution-of-secondary-cold-temperate-picea-forest-in-guandi-mountain-china
#16
Xiu Qing Yang, Chan Shi, Xu Gang Wang, Hui Jing Ma, Hai Bing Yan
The secondary Picea forest is one of the dominant vegetation types in Guandi Mountain. It's also the representative type of evergreen cold-temperate coniferous forests in subalpine region of north China. A 4 hm2 fixed monitoring Picea forest plot was established in Pangquangou Nature Reserve, Guandi Mountain (GDS plot) to better understand the basic characteristics such as species composition, community structure and its potential ecological process and mechanisms. We analyzed species composition, structure and spatial distribution of sample forest based on the first background survey data in this paper...
May 18, 2017: Ying Yong Sheng Tai Xue Bao, the Journal of Applied Ecology
https://www.readbyqxmd.com/read/29737181/comparative-familial-aggregation-of-bipolar-disorder-in-patients-with-bipolar-i-and-bipolar-ii-disorders
#17
Gordon B Parker, Mia Romano, Rebecca K Graham, Tahlia Ricciardi
OBJECTIVE: We sought to quantify the prevalence and differential prevalence of a bipolar disorder among family members of patients with a bipolar I or II disorder. METHODS: The sample comprised 1165 bipolar and 1041 unipolar patients, with the former then sub-typed as having either a bipolar I or II condition. Family history data was obtained via an online self-report tool. RESULTS: Prevalence of a family member having a bipolar disorder (of either sub-type) was distinctive (36...
May 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29733970/thyroxine-binding-globulin-deficiency-due-to-a-novel-serpina7-mutation-clinical-characterization-analysis-of-x-chromosome-inactivation-pattern-and-protein-structural-modeling
#18
Cristiane Jeyce Gomes Lima, Andressa Aby Faraj Linhares Maciel, Matheus de Oliveira Andrade, Vinicius Santos da Cunha, Juliana Forte Mazzeu, Lucas Bleicher, Francisco de Assis Rocha Neves, Adriana Lofrano-Porto
OBJECTIVE: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We aim to investigate the molecular basis of partial TBG deficiency (TBG-PD) in a female, by evaluating the X-chromosome inactivation pattern as well as the mutant protein structural modeling. DESIGN AND METHODS: Sequencing of the coding region of the SERPINA7 gene was performed in a female with a TBG-PD phenotype and her first-degree relatives...
May 4, 2018: Gene
https://www.readbyqxmd.com/read/29732714/whole-exome-sequencing-to-identify-rare-variants-and-gene-networks-that-increase-susceptibility-to-scleroderma-in-african-americans
#19
Pravitt Gourh, Elaine F Remmers, Steven E Boyden, Theresa Alexander, Nadia D Morgan, Ami A Shah, Maureen D Mayes, Ayo Doumatey, Amy R Bentley, Daniel Shriner, Robyn T Domsic, Thomas A Medsger, Virginia D Steen, Paula S Ramos, Richard M Silver, Benjamin Korman, John Varga, Elena Schiopu, Dinesh Khanna, Vivien Hsu, Jessica K Gordon, Lesley Ann Saketkoo, Heather Gladue, Brynn Kron, Lindsey A Criswell, Chris T Derk, S Louis Bridges, Victoria K Shanmugam, Kathleen D Kolstad, Lorinda Chung, Reem Jan, Elana J Bernstein, Avram Goldberg, Marcin Trojanowski, Suzanne Kafaja, Kathleen M Maksimowicz-McKinnon, James C Mullikin, Adebowale Adeyemo, Charles Rotimi, Francesco Boin, Daniel L Kastner, Fredrick M Wigley
OBJECTIVE: Whole-exome sequencing (WES) studies in systemic sclerosis (SSc) patients of European American (EA) ancestry have identified variants in the ATP8B4 gene and enrichment of variants in genes in the extracellular matrix (ECM)-related pathway increasing SSc susceptibility. Our goal was to evaluate the association of the ATP8B4 gene and the ECM-related pathway with SSc in a cohort of African Americans (AA). METHODS: SSc patients of AA ancestry were enrolled from 23 academic centers across the United States under the Genome Research in African American Scleroderma Patients (GRASP) consortium...
May 6, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29731251/common-variant-burden-contributes-to-the-familial-aggregation-of-migraine-in-1-589-families
#20
Padhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Anneli Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Markus Färkkilä, Heiko Runz, Mark J Daly, Benjamin M Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1...
April 27, 2018: Neuron
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