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https://www.readbyqxmd.com/read/28441710/analysis-of-cisplatin-induced-ototoxicity-risk-factors-in-iranian-patients-with-solid-tumors-a-cohort-prospective-and-single-institute-study
#1
Zahra Esfahani Monfared, Adnan Khosravi, Ali Safavi Naini, Golnar Radmand, Kian Khodadad
Background: Cisplatin has been associated with irreversible hearing damage. Up to now, there is no therapeutic intervention showing benefit in preventing Cisplatin-induced ototoxicity. The aim of this study was to determine risk factors contributing to hearing impairment after cisplatin administration in Iranian patients. Methods: Hearing thresholds of 124 patients before and after cisplatin administration were assessed with reference to pure-tone audiometry averages at several frequencies from 2006 to 2010...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28441456/genome-wide-association-study-of-facial-morphology-reveals-novel-associations-with-frem1-and-park2
#2
Myoung Keun Lee, John R Shaffer, Elizabeth J Leslie, Ekaterina Orlova, Jenna C Carlson, Eleanor Feingold, Mary L Marazita, Seth M Weinberg
Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the genetic loci influencing facial morphology. In this study, we applied factor analysis to a set of 276 facial linear distances derived from 3D facial surface images of 2187 unrelated individuals of European ancestry. We retained 23 facial factors, which we then tested for genetic associations using a genome-wide panel of 10,677,593 single nucleotide polymorphisms (SNPs)...
2017: PloS One
https://www.readbyqxmd.com/read/28441138/employing-rna-viruses-to-fight-cancer-novel-insights-into-oncolytic-virotherapy
#3
Dörthe Masemann, Yvonne Boergeling, Stephan Ludwig
Within the last decades, viruses that specifically target tumor cells have emerged as novel therapeutic agents against cancer. These viruses do not only act via their cell-lytic properties, but also harbor immunostimulatory features to re-direct the tumor-microenvironment and stimulate tumor-directed immune responses. Furthermore, oncolytic viruses are considered to be superior to classical cancer therapies due to higher selectivity towards tumor cell destruction and, consequently, less collateral damage of non-transformed healthy tissue...
April 25, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/28441029/variable-susceptibility-to-cigarette-smoke-induced-emphysema-in-34-inbred-strains-of-mice-implicates-abi3bp-in-emphysema-susceptibility
#4
Josiah E Radder, Alyssa D Gregory, Adriana S Leme, Michael H Cho, Yanxia Chu, Neil J Kelly, Per Bakke, Amund Gulsvik, Augusto A Litonjua, David Sparrow, Terri H Beaty, James D Crapo, Edwin K Silverman, Yingze Zhang, Annerose Berndt, Steven D Shapiro
RATIONALE: Chronic obstructive pulmonary disease (COPD) is caused by a complex interaction of environmental exposures, most commonly cigarette smoke, and genetic factors. Chronic cigarette smoke exposure in the mouse is a commonly used animal model of COPD. We aimed to expand our knowledge of the variable susceptibility of inbred strains to this model and test for genetic variants associated with this trait. OBJECTIVE: To measure differential susceptibility to cigarette smoke-induced emphysema in the mouse, identify genetic loci associated with this quantitative trait, and find homologous human genes associated with COPD...
April 25, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#5
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28440899/lissencephaly-expanded-imaging-and-clinical-classification
#6
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A James Barkovich, Renzo Guerrini, William B Dobyns
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. However, progress in molecular genetics has led to identification of 19 LIS-associated genes, leaving the existing classification system insufficient to distinguish the increasingly diverse patterns of LIS...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#7
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440817/effects-of-dopamine-d2-d3-receptor-antagonism-on-human-planning-and-spatial-working-memory
#8
M Naef, U Müller, A Linssen, L Clark, T W Robbins, C Eisenegger
Psychopharmacological studies in humans suggest important roles for dopamine (DA) D2 receptors in human executive functions, such as cognitive planning and spatial working memory (SWM). However, studies that investigate an impairment of such functions using the selective DA D2/3 receptor antagonist sulpiride have yielded inconsistent results, perhaps because relatively low doses were used. We believe we report for the first time, the effects of a higher (800 mg p.o.) single dose of sulpiride as well as of genetic variation in the DA receptor D2 gene (DA receptor D2 Taq1A polymorphism), on planning and working memory...
April 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28440781/immunohistochemical-detection-of-the-braf-v600e-mutation-in-papillary-thyroid-carcinoma-evaluation-against-real-time-polymerase-chain-reaction
#9
Miguel Paja Fano, Aitziber Ugalde Olano, Elena Fuertes Thomas, Amelia Oleaga Alday
INTRODUCTION: The BRAF V600E mutation is the most common genetic change in papillary thyroid carcinoma and is associated with a poorer clinical course. Usual methods for its study (DNA sequencing or molecular test based on PCR) are expensive and time-consuming. Recently, immunohistochemistry (IHC) for BRAF mutation has been introduced. OBJECTIVE: To compare the results of IHC and real time PCR (RT-PCR) in the detection of BRAF V600E mutation in papillary thyroid carcinoma...
February 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28440753/is-hla-the-cause-of-the-high-incidence-of-type-1-diabetes-in-the-canary-islands-results-from-the-type-1-diabetes-genetics-consortium-t1dgc
#10
Angelo Santana Del Pino, Nathan Medina-Rodríguez, Marta Hernández-García, Francisco J Nóvoa-Mogollón, Ana M Wägner
INTRODUCTION: Incidence of childhood-onset type 1 diabetes mellitus in the Canary Islands is the highest reported so far in Spain, and among the highest worldwide. The HLA region accounts for approximately half the genetic risk of type 1 diabetes. Our aim was to assess distribution of high-risk and protective HLA haplotypes in the Canarian families included in the T1DGC, as compared to the rest of Spain. METHODS: The T1DGC study, an international project to study the genetics and pathogenesis of type 1 diabetes, enrolled more than 3000 families with type 1 diabetes worldwide...
March 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#11
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440306/an-evaluation-of-factors-associated-with-pathogenic-prss1-spink1-ctfr-and-or-ctrc-genetic-variants-in-patients-with-idiopathic-pancreatitis
#12
Niloofar Y Jalaly, Robert A Moran, Farshid Fargahi, Mouen A Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A Makary, David C Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K Singh
OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis...
April 25, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28440189/better-predictive-value-of-cancer-antigen125-ca125-as-biomarker-in-ovary-and-breast-tumors-and-its-correlation-with-the-histopathological-type-grade-of-the-disease
#13
Aarifa Nazmeen, Smarajit Maiti, Kusumita Mandal, Samir K Roy, Tamal Kanti Ghosh, Nirmalya K Sinha, Kamalika Mandal
BACKGROUND: Both ovarian/breast cancers are the most prevalent hormone-associated gynecological-cancers, where uncontrolled cellular proliferations/genetic-errors are noticed. The cancer-antigen125 (CA125), which we assessed presently is an important biomarker in the early detection/monitoring of this disease-pathogenesis. METHODS: Serum/tissue CA125 was measured by solid-phase-Enzyme-linked-immunosorbent-assay in women with ovarian/breast tumors of different types (epithelial/non-epithelial; benign/borderline/malignant)/stages...
April 24, 2017: Medicinal Chemistry
https://www.readbyqxmd.com/read/28439965/identifying-signatures-of-positive-selection-in-pigmentation-genes-in-two-south-asian-populations
#14
Manjari Jonnalagadda, Neeraj Bharti, Yatish Patil, Shantanu Ozarkar, Sunitha Manjari K, Rajendra Joshi, Heather Norton
OBJECTIVES: Skin pigmentation is a polygenic trait showing wide phenotypic variations among global populations. While numerous pigmentation genes have been identified to be under positive selection among European and East populations, genes contributing to phenotypic variation in skin pigmentation within and among South Asian populations are still poorly understood. The present study uses data from the Phase 3 of the 1000 genomes project focusing on two South Asian populations-GIH (Gujarati Indian from Houston, Texas) and ITU (Indian Telugu from UK), so as to decode the genetic architecture involved in adaptation to ultraviolet radiation in South Asian populations...
April 24, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28439798/the-changing-landscape-of-genetic-testing-for-inherited-breast-cancer-predisposition
#15
REVIEW
Anosheh Afghahi, Allison W Kurian
The advent of multiple-gene germline panel testing has led to significant advances in hereditary breast and ovarian cancer risk assessment. These include guideline-specific cancer risk management recommendations for patients and their families, such as screening with breast magnetic resonance imaging and risk-reducing surgeries, which have the potential to reduce substantially the morbidity and mortality associated with a hereditary cancer predisposition. However, controversy remains about the clinical validity and actionability of genetic testing in a broader patient population...
May 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28439751/development-of-a-streamlined-work-flow-for-handling-patients-genetic-testing-insurance-authorizations
#16
Wendy R Uhlmann, Katie Schwalm, Victoria M Raymond
Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data...
April 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28439532/recruiting-to-preclinical-alzheimer-s-disease-clinical-trials-through-registries
#17
Joshua D Grill
Participant registries are repositories of individuals who have expressed willingness to learn about studies for which they may be eligible. Registries are increasingly being utilized to improve recruitment to preclinical Alzheimer's disease (AD) clinical trials, which require large screening efforts to identify adequate numbers of participants who meet enrollment criteria. Recruiting to preclinical AD trials from registries is made more efficient through registry collection of data that permits exclusion of those who will not be eligible and identifies individuals most likely to qualify for trials...
June 2017: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/28439531/genome-and-cd4-t-cell-methylome-wide-association-study-of-circulating-trimethylamine-n-oxide-in-the-genetics-of-lipid-lowering-drugs-and-diet-network-goldn
#18
Stella Aslibekyan, Marguerite R Irvin, Bertha A Hidalgo, Rodney T Perry, Elias J Jeyarajah, Erwin Garcia, Irina Shalaurova, Paul N Hopkins, Michael A Province, Hemant K Tiwari, Jose M Ordovas, Devin M Absher, Donna K Arnett
BACKGROUND: Trimethylamine-N-oxide (TMAO), an atherogenic metabolite species, has emerged as a possible new risk factor for cardiovascular disease. Animal studies have shown that circulating TMAO levels are regulated by genetic and environmental factors. However, large-scale human studies have failed to replicate the observed genetic associations, and epigenetic factors such as DNA methylation have never been examined in relation to TMAO levels. METHODS AND RESULTS: We used data from the family-based Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) to investigate the heritable determinants of plasma TMAO in humans...
June 2017: Journal of Nutrition & Intermediary Metabolism
https://www.readbyqxmd.com/read/28439480/development-of-microsatellite-markers-based-on-expressed-sequence-tags-in-asparagus-cochinchinensis-asparagaceae
#19
Bo-Yun Kim, Han-Sol Park, Jung-Hoon Lee, Myounghai Kwak, Young-Dong Kim
PREMISE OF THE STUDY: Transcriptome-derived simple sequence repeat (SSR) markers were developed in Asparagus cochinchinensis (Asparagaceae). Due to its application in traditional medicine, its wild populations are threatened by over-collection even in protected areas, requiring immediate conservation efforts. METHODS AND RESULTS: Based on transcriptome data of A. cochinchinensis, 96 primer pairs with two to seven alleles per locus were selected for initial validation; of those, 27 primer pairs amplified across all samples, resulting in 15 polymorphic and 12 monomorphic microsatellite markers...
April 2017: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28439479/simple-sequence-repeat-markers-for-k%C3%A4-nuka-kunzea-spp-myrtaceae-present-in-new-zealand
#20
Dagmar F Goeke, Caroline M Mitchell, Claudia Lange, Gary J Houliston
PREMISE OF THE STUDY: We developed simple sequence repeat (SSR) markers to facilitate population genetic studies on kānuka (Kunzea spp.; Myrtaceae). METHODS AND RESULTS: A shotgun sequencing library was constructed from leaf material of K. robusta using a Roche 454 Junior sequencer, and a total of 3174 putative SSR regions were identified. Sixteen polymorphic markers were optimized for multiplex PCR on 10 endemic New Zealand Kunzea species. Each of these loci cross-amplified in all tested species...
April 2017: Applications in Plant Sciences
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