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https://www.readbyqxmd.com/read/28098264/assessment-of-coulometric-array-electrochemical-detection-coupled-with-hplc-uv-for-the-absolute-quantitation-of-pharmaceuticals
#1
Michael B Hicks, Leah Salituro, Ian Mangion, Wes Schafer, Rong Xiang, Xiaoyi Gong, Christopher J Welch
The use of a coulometric array detector in tandem with HPLC-UV was evaluated for the absolute quantitation of pharmaceutical compounds without standards, an important capability gap in contemporary pharmaceutical research and development. The high-efficiency LC flow-through electrochemical detector system allows for the rapid evaluation of up to 16 different potentials, aiding in the identification and quantitation of electrochemically reactive species. By quantifying the number of electrons added or removed from an analyte during its passage through the detector, the number of moles of the analyte can be established...
January 18, 2017: Analyst
https://www.readbyqxmd.com/read/28098136/exome-and-genome-sequencing-of-nasopharynx-cancer-identifies-nf-%C3%AE%C2%BAb-pathway-activating-mutations
#2
Yvonne Y Li, Grace T Y Chung, Vivian W Y Lui, Ka-Fai To, Brigette B Y Ma, Chit Chow, John K S Woo, Kevin Y Yip, Jeongsun Seo, Edwin P Hui, Michael K F Mak, Maria Rusan, Nicole G Chau, Yvonne Y Y Or, Marcus H N Law, Peggy P Y Law, Zoey W Y Liu, Hoi-Lam Ngan, Pok-Man Hau, Krista R Verhoeft, Peony H Y Poon, Seong-Keun Yoo, Jong-Yeon Shin, Sau-Dan Lee, Samantha W M Lun, Lin Jia, Anthony W H Chan, Jason Y K Chan, Paul B S Lai, Choi-Yi Fung, Suet-Ting Hung, Lin Wang, Ann Margaret V Chang, Simion I Chiosea, Matthew L Hedberg, Sai-Wah Tsao, Andrew C van Hasselt, Anthony T C Chan, Jennifer R Grandis, Peter S Hammerman, Kwok-Wai Lo
Nasopharyngeal carcinoma (NPC) is an aggressive head and neck cancer characterized by Epstein-Barr virus (EBV) infection and dense lymphocyte infiltration. The scarcity of NPC genomic data hinders the understanding of NPC biology, disease progression and rational therapy design. Here we performed whole-exome sequencing (WES) on 111 micro-dissected EBV-positive NPCs, with 15 cases subjected to further whole-genome sequencing (WGS), to determine its mutational landscape. We identified enrichment for genomic aberrations of multiple negative regulators of the NF-κB pathway, including CYLD, TRAF3, NFKBIA and NLRC5, in a total of 41% of cases...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28093361/neil1-is-a-candidate-gene-associated-with-common-variable-immunodeficiency-in-a-patient-with-a-chromosome-15q24-deletion
#3
Rosa Romano, Apostolos Zaravinos, Kyriaki Liadaki, Rozina Caridha, Johanna Lundin, Göran Carlsson, Jacek Winiarski, Qiang Pan-Hammarström, Lennart Hammarström
We report the first patient with an interstitial deletion of chromosome 15q24.1-q24.3 associated with common variable immunodeficiency (CVID). The 18-year old female patient's clinical and immunological phenotype was compared with 8 additional previously published patients with chr15q24 deletions. A CGH analysis estimated the deletion to be 3.767Mb in size (chr15: 74,410,916-78,178,418) and the result was confirmed using qRT-PCR. We defined an immune-related commonly deleted region (ICDR) within the chromosomal band 15q24...
January 13, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#4
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#5
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#6
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#7
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28073828/an-activating-mutation-in-stat3-results-in-neonatal-diabetes-through-reduced-insulin-synthesis
#8
Teresa Velayos, Rosa Martínez, Milagros Alonso, Koldo Garcia-Etxebarria, Anibal Aguayo, Cristina Camarero, Inés Urrutia, Idoia Martínez de LaPiscina, Raquel Barrio, Izortze Santin, Luis Castaño
Neonatal diabetes mellitus (NDM) is a rare form of diabetes diagnosed within the first six months of life. Genetic studies have allowed the identification of several genes linked to the development of NDM, however genetic causes for around 20% of the cases remain to be clarified.Most cases of NDM involve isolated diabetes, but sometimes it appears in association with other pathological conditions, including autoimmune diseases. Recent reports have linked activating mutations in STAT3 with early-onset autoimmune disorders that include diabetes of autoimmune origin, however the functional impact of STAT3 activating mutations have not been characterized at the pancreatic β cell level...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28072987/-a-pilot-clinical-study-of-immediate-provisionalization-with-a-chairside-computer-aided-design-and-computer-aided-manufacture-monolithic-crown-for-single-tooth-immediate-implant-placement
#9
J H Tian, P Di, Y Lin, Y Zhang, D H Wei, H Y Cui
Objective: To evaluate the primary clinical outcomes of immediate provisionalization with a monolithic crown utilizing a novel chairside computer aided design and computer aided manufacture (CAD/CAM) workflow for single tooth immediate implant placement. Methods: This pilot study was a prospective within-subjects design. Thirteen consecutive patients were included and diagnosed with untreatable single incisor or premolar with fine general and local anatomical conditions. The trial was conducted at Department of Implantology, Peking University School and Hospital of Stomatology, Beijing, between January 2016 and June 2016...
January 9, 2017: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#10
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28069351/evaluation-of-automated-wes-system-as-an-analytical-and-characterization-tool-to-support-monoclonal-antibody-drug-product-development
#11
Jinyu Wang, Anulfo Valdez, Yingchen Chen
Monitoring and evaluation of critical quality attributes (cQA) in monoclonal antibodies (mAb) are a regulatory requirement in pharmaceutical industry. High molecular weight (HMW) species are of critical importance due to the potential risk associated with immunogenicity. HMW species are typically monitored by size exclusion chromatography (SEC). Although low molecular weight (LMW) species are also detected by SEC, low-resolution separation of LMW limits its capability to monitor mAb fragmentation. Recently, we have developed new methods for LMW characterization and evaluation based on the Wes instrument from ProteinSimple...
December 21, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28067407/analysis-of-whole-exome-sequencing-with-cardiometabolic-traits-using-family-based-linkage-and-association-in-the-iras-family-study
#12
Keri L Tabb, Jacklyn N Hellwege, Nicholette D Palmer, Latchezar Dimitrov, Satria Sajuthi, Kent D Taylor, Maggie C Y Ng, Gregory A Hawkins, Yii-der Ida Chen, W Mark Brown, David McWilliams, Adrienne Williams, Carlos Lorenzo, Jill M Norris, Jirong Long, Jerome I Rotter, Joanne E Curran, John Blangero, Lynne E Wagenknecht, Carl D Langefeld, Donald W Bowden
Family-based methods are a potentially powerful tool to identify trait-defining genetic variants in extended families, particularly when used to complement conventional association analysis. We utilized two-point linkage analysis and single variant association analysis to evaluate whole exome sequencing (WES) data from 1205 Hispanic Americans (78 families) from the Insulin Resistance Atherosclerosis Family Study. WES identified 211,612 variants above the minor allele frequency threshold of ≥0.005. These variants were tested for linkage and/or association with 50 cardiometabolic traits after quality control checks...
January 9, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28061432/identification-and-functional-analysis-of-a-novel-lhx1-mutation-associated-with-congenital-absence-of-the-uterus-and-vagina
#13
Wei Zhang, Xueya Zhou, Liyang Liu, Ying Zhu, Chunmei Liu, Hong Pan, Qiong Xing, Jing Wang, Xi Wang, Xuegong Zhang, Yunxia Cao, Binbin Wang
Congenital absence of the uterus and vagina (CAUV) is the most extreme female Müllerian duct abnormality. Several researches proposed that genetic factors contributed to this disorder, whereas the precise genetic mechanism is far from full elucidation. Here, utilizing whole-exome sequencing (WES), we identified one novel missense mutation in LHX1 (NM_005568: c.G1108A, p.A370T) in one of ten unrelated patients diagnosed with CAUV. This mutation was absent from public databases and our internal database. Through the luciferase reporter analysis, we found that the mutation could change the transcriptional activity of LHX1 and its effect on the regulation of the downstream target gene GSC, which might be associated with urogenital system development...
January 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#14
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28050600/histiocytoid-cardiomyopathy-and-microphthalmia-with-linear-skin-defects-syndrome-phenotypes-linked-by-truncating-variants-in-ndufb11
#15
Gillian Rea, Tessa Homfray, Jan Till, Ferran Roses-Noguer, Rachel J Buchan, Sam Wilkinson, Alicja Wilk, Roddy Walsh, Shibu John, Shane McKee, Fiona J Stewart, Victoria Murday, Robert W Taylor, Michael Ashworth, A John Baksi, Piers Daubeney, Sanjay Prasad, Paul J R Barton, Stuart A Cook, James S Ware
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28042953/cervical-small-cell-neuroendocrine-tumor-mutation-profiles-via-whole-exome-sequencing
#16
Soo Young Cho, Minhye Choi, Hyo-Jeong Ban, Chang Hyeon Lee, Soojun Park, HanKyeom Kim, Young-Sik Kim, Young Seek Lee, Ji-Yun Lee
Cervical small cell neuroendocrine tumors (CSCNETs) are rare, aggressive neuroendocrine tumors (NETs). Reliable diagnostic and prognostic CSCNET markers are lacking, making diagnosis and prognosis prediction difficult, and treatment strategies limited. Here we provide mutation profiles for five tumor-normal paired CSCNETs using whole exome sequencing (WES). We expanded our assessment of frequently mutated genes to include publicly available data from 55 small intestine neuroendocrine tumors, 10 pancreatic neuroendocrine tumors, 42 small cell lung cancers, six NET cell lines, and 188 cervical cancers, along with our five CSCNETs...
December 22, 2016: Oncotarget
https://www.readbyqxmd.com/read/28039885/rare-variant-association-test-with-multiple-phenotypes
#17
Selyeong Lee, Sungho Won, Young Jin Kim, Yongkang Kim, Bong-Jo Kim, Taesung Park
Although genome-wide association studies (GWAS) have now discovered thousands of genetic variants associated with common traits, such variants cannot explain the large degree of "missing heritability," likely due to rare variants. The advent of next generation sequencing technology has allowed rare variant detection and association with common traits, often by investigating specific genomic regions for rare variant effects on a trait. Although multiple correlated phenotypes are often concurrently observed in GWAS, most studies analyze only single phenotypes, which may lessen statistical power...
December 31, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/28027854/exome-sequencing-in-children-of-women-with-skewed-x-inactivation-identifies-atypical-cases-and-complex-phenotypes
#18
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28025328/mutations-in-borealin-cause-thyroid-dysgenesis
#19
Aurore Carré, Athanasia Stoupa, Dulanjalee Karyiawasam, Manelle Gueriouz, Cyrille Ramond, Taylor Monus, Juliane Léger, Sébastien Gaujoux, Frédéric Sebag, Nicolas Glaser, Delphine Zenaty, Patrick Nitschke, Christine Bole-Feysot, Laurence Hubert, Stanislas Lyonnet, Raphaël Scharfmann, Arnold Munnich, Claude Besmond, William Taylor, Michel Polak
Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to the disease. We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. Borealin is a major component of the Chromosomal Passenger Complex (CPC) with well-known functions in mitosis...
December 26, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28008999/genetic-architecture-differences-between-pediatric-and-adult-onset-inflammatory-bowel-diseases-in-the-polish-population
#20
Jerzy Ostrowski, Agnieszka Paziewska, Izabella Lazowska, Filip Ambrozkiewicz, Krzysztof Goryca, Maria Kulecka, Tomasz Rawa, Jakub Karczmarski, Michalina Dabrowska, Natalia Zeber-Lubecka, Roman Tomecki, Anna Kluska, Aneta Balabas, Magdalena Piatkowska, Katarzyna Paczkowska, Jaroslaw Kierkus, Piotr Socha, Michal Lodyga, Grazyna Rydzewska, Maria Klopocka, Grazyna Mierzwa, Barbara Iwanczak, Elzbieta Krzesiek, Katarzyna Bak-Drabik, Jaroslaw Walkowiak, Beata Klincewicz, Piotr Radwan, Urszula Grzybowska-Chlebowczyk, Piotr Landowski, Agnieszka Jankowska, Bartosz Korczowski, Teresa Starzynska, Piotr Albrecht, Michal Mikula
Most inflammatory bowel diseases (IBDs) are classic complex disorders represented by common alleles. Here we aimed to define the genetic architecture of pediatric and adult-onset IBDs for the Polish population. A total of 1495 patients were recruited, including 761 patients with Crohn's disease (CD; 424 pediatric), 734 patients with ulcerative colitis (UC; 390 pediatric), and 934 healthy controls. Allelotyping employed a pooled-DNA genome-wide association study (GWAS) and was validated by individual genotyping...
December 23, 2016: Scientific Reports
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