keyword
MENU ▼
Read by QxMD icon Read
search

familial aggregation

keyword
https://www.readbyqxmd.com/read/28108514/somatic-ephrin-receptor-mutations-are-associated-with-metastasis-in-primary-colorectal-cancer
#1
Lucy Mathot, Snehangshu Kundu, Viktor Ljungström, Jessica Svedlund, Lotte Moens, Tom Adlerteg, Elin Falk-Sörqvist, Verónica Rendo, Claudia Bellomo, Markus Mayrhofer, Carme Cortina, Magnus Sundström, Patrick Micke, Johan Botling, Anders Isaksson, Aristidis Moustakas, Eduard Batlle, Helgi Birgisson, Bengt Glimelius, Mats Nilsson, Tobias Sjöblom
The contribution of somatic mutations to metastasis of colorectal cancers (CRC) is currently unknown. To find mutations involved in the CRC metastatic process, we performed deep mutational analysis of 676 genes in 107 stages II-IV primary CRC, of which half had metastasized. The mutation prevalence in the ephrin (Eph) family of tyrosine kinase receptors was ten-fold higher in primary tumors of metastatic CRC than in non-metastatic cases and preferentially occurred in stage III and IV tumours. Mutational analyses in situ confirmed expression of mutant Eph receptors...
January 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28108469/blood-rna-biomarkers-in-prodromal-park4-and-rem-sleep-behavior-disorder-show-role-of-complexin-1-loss-for-risk-of-parkinson-s-disease
#2
Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Jorge Antolio Domínguez-Bautista, Nadine Brehm, Hülya Tireli, Karl Hackmann, Caroline Pirkevi, Barbara Leube, Vincent Ries, Kerstin Reim, Nils Brose, Wilfred F den Dunnen, Madrid Johnson, Zsuzsanna Wolf, Marc Schindewolf, Wiebke Schrempf, Kathrin Reetz, Peter Young, David Vadasz, Achilleas S Frangakis, Evelin Schröck, Helmuth Steinmetz, Marina Jendrach, Udo Rüb, Ayşe Nazlı Başak, Wolfgang Oertel, Georg Auburger
Parkinson's disease (PD) is a frequent neurodegenerative process at old age. Accumulation and aggregation of the lipid-binding SNARE complex component alpha-synuclein (SNCA) underlies this vulnerability and defines stages of disease progression. Determinants of SNCA levels and mechanisms of SNCA neurotoxicity are intensely investigated. In view of physiological SNCA roles in blood to modulate vesicle release, we studied blood samples from a new large pedigree with SNCA gene duplication (PARK4 mutation), to identify effects of SNCA gain-of-function as potential disease biomarkers...
January 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28106732/familial-lung-cancer-a-brief-history-from-the-earliest-work-to-the-most-recent-studies
#3
REVIEW
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
Lung cancer is the deadliest cancer in the United States, killing roughly one of four cancer patients in 2016. While it is well-established that lung cancer is caused primarily by environmental effects (particularly tobacco smoking), there is evidence for genetic susceptibility. Lung cancer has been shown to aggregate in families, and segregation analyses have hypothesized a major susceptibility locus for the disease. Genetic association studies have provided strong evidence for common risk variants of small-to-moderate effect...
January 17, 2017: Genes
https://www.readbyqxmd.com/read/28105966/a-novel-approach-for-pathway-analysis-of-gwas-data-highlights-role-of-bmp-signaling-and-muscle-cell-differentiation-in-colorectal-cancer-susceptibility
#4
Aniket Mishra, Stuart MacGregor
Genome-wide association studies (GWAS) have revolutionized the field of gene mapping. As the GWAS field matures, it is becoming clear that for many complex traits, a proportion of the missing heritability is attributable to common variants of individually small effect. Detecting these small effects individually can be difficult, and statistical power would be increased if relevant variants could be grouped together for testing. Here, we propose a VEGAS2Pathway approach that aggregates association strength of individual markers into pre-specified biological pathways...
February 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28104746/origin-and-evolution-of-the-sponge-aggregation-factor-gene-family
#5
Laura F Grice, Marie E A Gauthier, Kathrein E Roper, Xavier Fernàndez-Busquets, Sandie M Degnan, Bernard M Degnan
Although discriminating self from nonself is a cardinal animal trait, metazoan allorecognition genes do not appear to be homologous. Here we characterise the Aggregation Factor (AF) gene family, which encodes putative allorecognition factors in the demosponge Amphimedon queenslandica, and trace its evolution across 24 sponge (Porifera) species. The AF locus in Amphimedon is comprised of a cluster of five similar genes that encode Calx-beta and Von Willebrand domains and a newly defined Wreath domain, and are highly polymorphic...
January 19, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28100513/loss-of-ranbp2-in-motor-neurons-causes-the-disruption-of-nucleocytoplasmic-and-chemokine-signaling-and-proteostasis-of-hnrnph3-and-mmp28-and-the-development-of-amyotrophic-lateral-sclerosis-als-like-syndromes
#6
Kyoung-In Cho, Dosuk Yoon, Sunny Qiu, Zachary Danziger, Warren M Grill, William C Wetsel, Paulo A Ferreira
The pathogenic drivers of sporadic and familial motor neuron disease (MND), such ALS, are unknown. MND impair the Ran GTPase cycle, which controls nucleocytoplasmic transport, ribostasis and proteostasis; however, cause-effect mechanisms of Ran GTPase modulators in motoneuron pathobiology are heretofore elusive. The cytosolic and peripheral nucleoporin, Ranbp2, is a critical regulator of the Ran GTPase cycle and proteostasis of neurological disease-prone substrates, but the roles of Ranbp2 in motoneuron biology and disease remain unknown...
January 18, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#7
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28099493/different-phenotypes-of-the-two-chinese-probands-with-the-same-c-889g-a-p-c162y-mutation-in-coch-gene-verify-different-mechanisms-underlying-autosomal-dominant-nonsyndromic-deafness-9
#8
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains. METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p...
2017: PloS One
https://www.readbyqxmd.com/read/28098741/does-familial-aggregation-of-chronic-low-back-pain-impact-on-recovery-a-population-based-twin-study
#9
J R Zadro, D Shirley, J F Sanchez-Romera, J R Ordoñana, P H Ferreira
STUDY DESIGN: Longitudinal twin-cohort study. OBJECTIVE: To investigate the impact familial aggregation of chronic low back pain (LBP) has on the recovery from chronic LBP. SUMMARY OF BACKGROUND DATA: LBP is a worldwide problem, with pain and disability often becoming chronic. Genetics and familial behaviours could significantly impact the recovery from chronic LBP but have not been extensively investigated. METHODS: 624 Spanish twins from the Murcia Twin Registry reported experiencing chronic LBP within the past two years during the 2009/11 data collection wave and were followed up in 2013...
January 16, 2017: Spine
https://www.readbyqxmd.com/read/28096359/%C3%AE-synuclein-binds-and-sequesters-pike-l-into-lewy-bodies-triggering-dopaminergic-cell-death-via-ampk-hyperactivation
#10
Seong Su Kang, Zhentao Zhang, Xia Liu, Fredric P Manfredsson, Li He, P Michael Iuvone, Xuebing Cao, Yi E Sun, Lingjing Jin, Keqiang Ye
The abnormal aggregation of fibrillar α-synuclein in Lewy bodies plays a critical role in the pathogenesis of Parkinson's disease. However, the molecular mechanisms regulating α-synuclein pathological effects are incompletely understood. Here we show that α-synuclein binds phosphoinositide-3 kinase enhancer L (PIKE-L) in a phosphorylation-dependent manner and sequesters it in Lewy bodies, leading to dopaminergic cell death via AMP-activated protein kinase (AMPK) hyperactivation. α-Synuclein interacts with PIKE-L, an AMPK inhibitory binding partner, and this action is increased by S129 phosphorylation through AMPK and is decreased by Y125 phosphorylation via Src family kinase Fyn...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28096332/human-nf-%C3%AE%C2%BAb-repressing-factor-acts-as-a-stress-regulated-switch-for-ribosomal-rna-processing-and-nucleolar-homeostasis-surveillance
#11
Marta Coccia, Antonio Rossi, Anna Riccio, Edoardo Trotta, Maria Gabriella Santoro
The nucleolus, a dynamic nuclear compartment long regarded as the cell ribosome factory, is emerging as an important player in the regulation of cell survival and recovery from stress. In larger eukaryotes, the stress-induced transcriptional response is mediated by a family of heat-shock transcription factors. Among these, HSF1, considered the master regulator of stress-induced transcriptional responses, controls the expression of cytoprotective heat shock proteins (HSPs), molecular chaperones/cochaperones constituting a major component of the cell protein quality control machinery essential to circumvent stress-induced degradation and aggregation of misfolded proteins...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28094300/sequestration-of-prmt1-and-nd1-l-mrna-into-als-linked-fus-mutant-r521c-positive-aggregates-contributes-to-neurite-degeneration-upon-oxidative-stress
#12
Mi-Hee Jun, Hyun-Hee Ryu, Yong-Woo Jun, Tongtong Liu, Yan Li, Chae-Seok Lim, Yong-Seok Lee, Bong-Kiun Kaang, Deok-Jin Jang, Jin-A Lee
Mutations in fused in sarcoma (FUS), a DNA/RNA binding protein, are associated with familial amyotrophic lateral sclerosis (ALS). However, little is known about how ALS-causing mutations alter protein-protein and protein-RNA complexes and contribute to neurodegeneration. In this study, we identified protein arginine methyltransferase 1 (PRMT1) as a protein that more avidly associates with ALS-linked FUS-R521C than with FUS-WT (wild type) or FUS-P525L using co-immunoprecipitation and LC-MS analysis. Abnormal association between FUS-R521C and PRMT1 requires RNA, but not methyltransferase activity...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093300/surgeon-as-the-second-victim-results-of-the-boston-intraoperative-adverse-events-surgeons-attitude-bisa-study
#13
Kelsey Han, Jordan Bohnen, Thomas Peponis, Myriam Martinez, Anirudh Nandan, Daniel D Yeh, Jarone Lee, Marc Demoya, George Velmahos, Haytham Ma Kaafarani
BACKGROUND: An intraoperative adverse event (iAE) is often directly attributable to the surgeon's technical error and/or suboptimal intraoperative judgment. We aimed to examine the psychological impact of iAEs on surgeons as well as the surgeons' attitude regarding iAE reporting. STUDY DESIGN: We conducted a web-based cross-sectional survey of all surgeons at three major teaching hospitals of the same university. The 29-item questionnaire was developed using a systematic closed and open approach focused on assessing the surgeons' 1) personal account of iAE incidence, 2) emotional response to iAEs, 3) available support systems and 4) perspective regarding the barriers to iAE reporting...
January 13, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28089393/poverty-and-private-health-expenditures-in-italian-households-during-the-recent-crisis
#14
Simone Sarti, Marco Terraneo, Mara Tognetti Bordogna
The global financial crisis that began in 2008 had an overall effect on the health behaviours of Italian households. Aggregate private health expenditures have decreased while the citizens have increasingly been asked to share health costs. The reduction of households' health expenditure could have serious consequences for health, especially if it concerns the most vulnerable people. The aim of this paper is to analyse the relation between poverty and household health expenditure, considering regional and social group variations...
January 6, 2017: Health Policy
https://www.readbyqxmd.com/read/28079238/human-leukocyte-antigen-hladrb1-determinants-susceptibility-to-gastroesophageal-reflux-disease
#15
Batool Mutar Mahdi, Riyadh Mohamad Hasan, Wafaa Hazim Salih
BACKGROUND: - Gastroesophageal reflux disease (GERD) is characterized by diverse symptoms. There is an evidence for a genetic component to GERD as supported by familial aggregation of this disease. OBJECTIVE: - To investigate whether certain human leucocyte antigen genes HLA-DRB1 are associated with GERD. METHODS: - Patients and controls were prospectively recruited from GIT center at Al-Kindy Teaching Hospital (Baghdad-Iraq) between January 2014 and July 2016...
January 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28078206/infectious-atopic-and-inflammatory-diseases-childhood-adversities-and-familial-aggregation-are-independently-associated-with-the-risk-for-mental-disorders-results-from-a-large-swiss-epidemiological-study
#16
Vladeta Ajdacic-Gross, Aleksandra Aleksandrowicz, Stephanie Rodgers, Margot Mutsch, Anja Tesic, Mario Müller, Wolfram Kawohl, Wulf Rössler, Erich Seifritz, Enrique Castelao, Marie-Pierre F Strippoli, Caroline Vandeleur, Roland von Känel, Rosa Paolicelli, Markus A Landolt, Cornelia Witthauer, Roselind Lieb, Martin Preisig
AIM: To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METHODS: We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjusting for sex, educational level, familial aggregation, childhood adversities and traumatic experiences in childhood...
December 22, 2016: World Journal of Psychiatry
https://www.readbyqxmd.com/read/28075555/familial-mutations-may-switch-conformational-preferences-in-%C3%AE-synuclein-fibrils
#17
Liang Xu, Buyong Ma, Ruth Nussinov, Damien Thompson
The pathogenesis of Parkinson's disease is closely associated with the aggregation of the α-synuclein protein. Several familial mutants have been identified and shown to affect the aggregation kinetics of α-synuclein through distinct molecular mechanisms. Quantitative evaluation of the relative stabilities of the wild type and mutant fibrils is crucial for understanding the aggregation process and identifying the key component steps. In this work, we examined two topologically different α-synuclein fibril structures that are either determined by solid-state NMR method or modelled based on solid-state NMR data, and characterized their conformational properties and thermodynamic stabilities using molecular dynamics simulations...
January 11, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28073829/dutpase-dut-is-mutated-in-a-novel-monogenic-syndrome-with-diabetes-and-bone-marrow-failure
#18
Reinaldo Sousa Dos Santos, Mathilde Daures, Anne Philippi, Sophie Romero, Lorella Marselli, Piero Marchetti, Valérie Senée, Delphine Bacq, Céline Besse, Baz Baz, Laura Marroquí, Sarah Ivanoff, Julien Masliah-Planchon, Marc Nicolino, Jean Soulier, Gérard Socié, Decio L Eizirik, Jean-François Gautier, Cécile Julier
We describe a new syndrome characterized by early onset diabetes mellitus, associated with bone marrow failure affecting mostly the erythrocytic lineage. Using whole exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (NCBI Gene ID: 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, while none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28072389/suppression-of-c9orf72-rna-repeat-induced-neurotoxicity-by-the-als-associated-rna-binding-protein-zfp106
#19
Barbara Celona, John von Dollen, Sarat C Vatsavayai, Risa Kashima, Jeffrey R Johnson, Amy A Tang, Akiko Hata, Bruce L Miller, Eric J Huang, Nevan J Krogan, William W Seeley, Brian L Black
Expanded GGGGCC repeats in the first intron of the C9orf72 gene represent the most common cause of familial amyotrophic lateral sclerosis (ALS), but the mechanisms underlying repeat-induced disease remain incompletely resolved. One proposed gain-of-function mechanism is that repeat-containing RNA forms aggregates that sequester RNA binding proteins, leading to altered RNA metabolism in motor neurons. Here, we identify the zinc finger protein Zfp106 as a specific GGGGCC RNA repeat-binding protein, and using affinity purification-mass spectrometry, we show that Zfp106 interacts with multiple other RNA binding proteins, including the ALS-associated factors TDP-43 and FUS...
January 10, 2017: ELife
https://www.readbyqxmd.com/read/28071867/identifying-effective-nurse-led-care-transition-interventions-for-older-adults-with-complex-needs-using-a-structured-expert-panel
#20
Lianne Jeffs, Kerry Kuluski, Madelyn Law, Marianne Saragosa, Sherry Espin, Ella Ferris, Jane Merkley, Brenda Dusek, Monika Kastner, Chaim M Bell
BACKGROUND: Nursing plays a central role in facilitating care transitions for complex older adults, yet there is no consensus of the components of nurse-led care transitions interventions to facilitate high quality care transitions among complex older adults. A structured expert panel was established with the purpose of identifying effective nurse-led care transition interventions. METHODS: A modified Delphi consensus technique based on the RAND method was employed...
January 10, 2017: Worldviews on Evidence-based Nursing
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"