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https://www.readbyqxmd.com/read/29353467/high-resolution-melting-analysis-for-rapid-detection-of-pik3ca-gene-mutations-in-bladder-cancer-a-mutated-target-for-cancer-therapy
#1
Zahra Ousati Ashtiani, Abdol Rasoul Mehrsai, Mohammad Reza Pourmand, Gholam Reza Pourmand
PURPOSE: PIK3CA gene mutations have clinical importance and their presence is associated with therapy response. They are also considered as a molecule for targeted therapy. As regards to their importance, genetic variation within a population as well as among different populations, this study was conducted to detect common mutations of exons 9 and 20 and other probable mutations in PIK3CA gene as well as their frequencies in Iranian bladder cancer patients. MATERIALS AND METHODS: Paired tumor and adjacent normal tissues samples were obtained from 50 bladder cancer patients...
January 21, 2018: Urology Journal
https://www.readbyqxmd.com/read/29353449/blastulation-timing-is-associated-with-differential-mitochondrial-content-in-euploid-embryos
#2
Jacqueline R Ho, Nabil Arrach, Katherine Rhodes-Long, Wael Salem, Lynda K McGinnis, Karine Chung, Kristin A Bendikson, Richard J Paulson, Ali Ahmady
PURPOSE: Preimplantation genetic screening (PGS) and assessment of mitochondrial content (MC) are current methods for selection of the best embryos for transfer. Studies suggest that time-lapse morphokinetics (TLM) may also be helpful for selecting embryos more likely to implant. In our study, we sought to examine the relationship between TLM parameters and MC to determine if they could be used adjunctively in embryo selection. We also examined the relationship between MC with ploidy and blastulation...
January 20, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29353324/stromalized-microreactor-supports-murine-hematopoietic-progenitor-enrichment
#3
Danika Khong, Matthew Li, Amy Singleton, Ling-Yee Chin, Biju Parekkadan
There is an emerging need to process, expand, and even genetically engineer hematopoietic stem and progenitor cells (HSPCs) prior to administration for blood reconstitution therapy. A closed-system and automated solution for ex vivo HSC processing can improve adoption and standardize processing techniques. Here, we report a recirculating flow bioreactor where HSCs are stabilized and enriched for short-term processing by indirect fibroblast feeder coculture. Mouse 3 T3 fibroblasts were seeded on the extraluminal membrane surface of a hollow fiber micro-bioreactor and were found to support HSPC cell number compared to unsupported BMCs...
January 20, 2018: Biomedical Microdevices
https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#4
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#5
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29352324/efficient-genome-wide-genotyping-strategies-and-data-integration-in-crop-plants
#6
REVIEW
Davoud Torkamaneh, Brian Boyle, François Belzile
Next-generation sequencing (NGS) has revolutionized plant and animal research by providing powerful genotyping methods. This review describes and discusses the advantages, challenges and, most importantly, solutions to facilitate data processing, the handling of missing data, and cross-platform data integration. Next-generation sequencing technologies provide powerful and flexible genotyping methods to plant breeders and researchers. These methods offer a wide range of applications from genome-wide analysis to routine screening with a high level of accuracy and reproducibility...
January 19, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29352128/phosphorylation-of-the-transient-receptor-potential-ankyrin-1-by-cyclin-dependent-kinase-5-affects-chemo-nociception
#7
Bradford E Hall, Michaela Prochazkova, Matthew R Sapio, Paul Minetos, Natalya Kurochkina, B K Binukumar, Niranjana D Amin, Anita Terse, John Joseph, Stephen J Raithel, Andrew J Mannes, Harish C Pant, Man-Kyo Chung, Michael J Iadarola, Ashok B Kulkarni
Cyclin-dependent kinase 5 (Cdk5) is a key neuronal kinase that is upregulated during inflammation, and can subsequently modulate sensitivity to nociceptive stimuli. We conducted an in silico screen for Cdk5 phosphorylation sites within proteins whose expression was enriched in nociceptors and identified the chemo-responsive ion channel Transient Receptor Potential Ankyrin 1 (TRPA1) as a possible Cdk5 substrate. Immunoprecipitated full length TRPA1 was shown to be phosphorylated by Cdk5 and this interaction was blocked by TFP5, an inhibitor that prevents activation of Cdk5...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29351780/fancm-and-recql-genetic-variants-and-breast-cancer-susceptibility-relevance-to-south-poland-and-west-ukraine
#8
Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey
BACKGROUND: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterised the spectrum of FANCM and RECQL mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. METHODS: We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of FANCM and RECQL in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123)...
January 19, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29351105/stem-cell-modeling-of-lipid-genetics
#9
Kiran Musunuru
PURPOSE OF REVIEW: To summarize recent advances with respect to the use of human pluripotent stem cells to study the genetics of blood lipid traits. RECENT FINDINGS: Human pluripotent stem cell models have been used to elucidate the mechanisms by which genes contribute to dyslipidemia, to discover new lipid-related DNA variants and genes, and to perform drug screens. SUMMARY: In addition to enabling a better understanding of the genetic basis of lipid metabolism, human pluripotent stem cells are identifying potential therapeutic targets as well as potential therapies...
January 17, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29351094/clinical-and-molecular-characterization-of-nine-chinese-patients-affected-by-hypofibrinogenemia-or-dysfibrinogenemia
#10
Yingyu Wang, Wenbai Chen, Ping Ma, Liqing Zhu, Mingshan Wang
: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Three fibrinogen genes were amplified by PCR and screened for variants. The identified variants were analyzed by bioinformatics prediction and molecular modeling analysis...
January 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29351064/molecular-target-analysis-of-stearoyl-coa-desaturase-genes-of-protozoan-parasites
#11
He Lu, Xin Qin, Jing Zhang, Shuang Zhang, Yu Zhu, Wei Hua Wu
Protozoan parasites can synthesize polyunsaturated fatty acids. They possess stearoyl-CoA desaturase to convert stearate into oleate and linoleate. Stearoyl-CoA desaturase are the key enzymes required for the synthesis of unsaturated fatty acids. It seems attractive to evaluate the possibility of using unsaturated fatty acid biosynthesis pathways as drug targets. In this study, the authors investigate codon usage bias, base composition variations and protein sequence in ten available complete stearoyl-CoA desaturase gene sequences from Toxoplasma gondii, Neospora caninum etc...
March 26, 2018: Acta Parasitologica
https://www.readbyqxmd.com/read/29351057/global-gene-expression-response-in-mouse-models-of-dna-repair-deficiency-after-gamma-irradiation
#12
Nils Rudqvist, Evagelia C Laiakis, Shanaz A Ghandhi, Suresh Kumar, Jeffrey D Knotts, Mashkura Chowdhury, Albert J Fornace, Sally A Amundson
In the event of an improvised nuclear device or "dirty bomb" in a highly populated area, potentially hundreds of thousands of people will require screening to ensure that exposed individuals receive appropriate treatment. For this reason, there is a need to develop tools for high-throughput radiation biodosimetry. Gene expression represents an emerging approach to biodosimetry and could potentially provide an estimate of both absorbed dose and individual radiation-induced injury. Since approximately 2-4% of humans are thought to be radiosensitive, and would suffer greater radiological injury at a given dose than members of the general population, it is of interest to explore the potential impact of such sensitivity on the biodosimetric gene expression signatures being developed...
January 19, 2018: Radiation Research
https://www.readbyqxmd.com/read/29351036/crouzon-with-acanthosis-nigricans-and-odontogenic-tumors-a-rare-form-of-syndromic-craniosynostosis
#13
Wen Xu, Donna M McDonald-McGinn, Alexandra J Melchiorre, Elaine H Zackai, Scott P Bartlett, Jesse A Taylor
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#14
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350394/genetic-variants-in-the-polish-population-of-patients-with-pulmonary-arterial-hypertension-sequencing-of-bmpr2-alk1-and-eng-genes
#15
Barbara Uznańska-Loch, Kamil Wikło, Dominika Kulczycka-Wojdala, Bożena Szymańska, Łukasz Chrzanowski, Karina Wierzbowska-Drabik, Ewa Trzos, Jarosław Damian Kasprzak, Małgorzata Kurpesa
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to the transforming growth factor-beta signaling pathway are often related to the development of the disease. There was no study in Polish population that would cover this problem. AIM: To screen for genetic mutations in Polish cohort of patients with pulmonary hypertension, especially with idiopathic PAH, treated in a single hospital in Poland...
January 19, 2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29350269/exome-analysis-in-34-sudden-unexplained-death-sud-victims-mainly-identified-variants-in-channelopathy-associated-genes
#16
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases...
January 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29350094/medium-chain-acyl-coa-dehydrogenase-deficiency-two-novel-acadm-mutations-identified-in-a-retrospective-screening-mcad-deficiency-two-novel-mutations
#17
Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret
Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADM mutations are also described. Methods Both patients were diagnosed clinically; follow-up involved analysis of organic acids in urine, acylcarnitines in dried blood spots, and genetic analysis of ACADM. Cut-off values of acylcarnitines in newborns were established using analysis of 10,000 newborns in a pilot screening study...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29350070/celiac-antibodies-in-children-with-type-1-diabetes-a-diagnostic-validation-study
#18
Katarzyna Lewandowska, Olga Ciepiela, Agnieszka Szypowska, Jan Wyhowski, Eliza Głodkowska-Mrówka, Katarzyna Popko, Magdalena Ostafin, Beata Pyrżak, Urszula Demkow
INTRODUCTION: Autoimmune diseases, such as celiac disease (CD) and diabetes mellitus type 1, tend to co-occur within the same patient. The prevalence of CD in diabetic children is higher than in the general population, and is estimated to be 0.6-16.4%. The diagnosis of CD is based on histopathological examination and serological testing, however, these methods are still imperfect and new diagnostic algorithms should be considered. AIM: The aim of the study was to assess the diagnostic value of serological tests detecting antibodies against deamidated gliadin peptide, endomysium, tissue transglutaminase, neo-epitope tissue transglutaminase and to identify HLA-related genetic predisposition to CD in patients with type 1 diabetes mellitus (DM1)...
January 19, 2018: Autoimmunity
https://www.readbyqxmd.com/read/29348906/an-ank1-ivs3-2a-c-mutation-causes-exon-4-skipping-in-two-patients-from-a-chinese-family-with-hereditary-spherocytosis
#19
Xiong Wang, Liyan Mao, Na Shen, Jing Peng, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is a congenital hemolytic anemia that affects the cell membrane of red blood cells and is characterized by the presence of spherical-shaped erythrocytes in the peripheral blood film. The clinical manifestation of HS ranges from asymptomatic to severe cases that require transfusion during early childhood. HS is caused by mutations in red blood cell membrane protein encoding genes, including ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Mutations of the ANK1 gene account for 75% of all HS cases, and these particular mutations are typically inherited in an autosomal dominant manner...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348827/molecular-genetic-profiling-and-high-throughput-in-vitro-drug-screening-in-nut-midline-carcinoma-an-aggressive-and-fatal-disease
#20
Anja Stirnweiss, Joyce Oommen, Rishi S Kotecha, Ursula R Kees, Alex H Beesley
NUT midline carcinoma (NMC) is a rare and aggressive cancer, with survival typically less than seven months, that can arise in people of any age. Genetically, NMC is defined by the chromosomal fusion of NUTM1 with a chromatin-binding partner, typically the bromodomain-containing protein BRD4. However, little is known about other genetic aberrations in this disease. In this study, we used a unique panel of cell lines to describe the molecular-genetic features of NMC. Next-generation sequencing identified a recurring high-impact mutation in the DNA-helicase gene RECQL5 in 75% of lines studied, and biological signals from mutation-signature and network analyses consistent with a general failure in DNA-repair...
December 22, 2017: Oncotarget
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