keyword
MENU ▼
Read by QxMD icon Read
search

wes

keyword
https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#1
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#2
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29046411/rapid-detection-and-differentiation-of-clinically-relevant-candida-species-simultaneously-from-blood-culture-using-a-novel-signal-amplification-approach
#3
Wanyuan Ao, Joshua Klonoski, Eric Berlinghoff, Jordan Jensen, Taliman Afroz, Denton Munns, Wes Lindsey, Gerald Denys, Robert Jenison
Fungal blood-stream infections are a significant problem in the U.S. with an attributable mortality rate of up to 40%. Early diagnosis to direct appropriate therapy has been shown to be critical to reduce mortality rates. Conventional phenotypic methods for fungal detection take several days, which is often too late to impact outcomes. Herein, we describe a cost-effective multiplex assay platform for rapid detection and differentiation of major clinically relevant Candida species directly from blood culture...
October 18, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/29037056/-neuroacanthocytosis-diagnosis-with-new-generation-whole-exome-sequencing
#4
Kinga Hadzsiev, Mónika Szőts, Anett Fekete, László Balikó, Kim Boycott, Ferenc Nagy, Béla Melegh
In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29036925/evaluating-oilseed-biofuel-production-feasibility-in-california-s-san-joaquin-valley-using-geophysical-and-remote-sensing-techniques
#5
Dennis L Corwin, Kevin Yemoto, Wes Clary, Gary Banuelos, Todd H Skaggs, Scott M Lesch, Elia Scudiero
Though more costly than petroleum-based fuels and a minor component of overall military fuel sources, biofuels are nonetheless strategically valuable to the military because of intentional reliance on multiple, reliable, secure fuel sources. Significant reduction in oilseed biofuel cost occurs when grown on marginally productive saline-sodic soils plentiful in California's San Joaquin Valley (SJV). The objective is to evaluate the feasibility of oilseed production on marginal soils in the SJV to support a 115 ML yr(-1) biofuel conversion facility...
October 14, 2017: Sensors
https://www.readbyqxmd.com/read/29032884/the-genetics-underlying-idiopathic-ventricular-fibrillation-a-special-role-for-catecholaminergic-polymorphic-ventricular-tachycardia
#6
Jaakko T Leinonen, Lia Crotti, Aurora Djupsjöbacka, Silvia Castelletti, Nella Junna, Alice Ghidoni, Annukka M Tuiskula, Carla Spazzolini, Federica Dagradi, Matti Viitasalo, Kimmo Kontula, Maria-Christina Kotta, Elisabeth Widén, Heikki Swan, Peter J Schwartz
BACKGROUND: Ventricular fibrillation (VF) is a major cause of sudden cardiac death. In some cases clinical investigations fail to identify the underlying cause and the event is classified as idiopathic (IVF). Since mutations in arrhythmia-associated genes frequently determine arrhythmia susceptibility, screening for disease-predisposing variants could improve IVF diagnostics. METHODS AND RESULTS: The study included 76 Finnish and Italian patients with a mean age of 31...
October 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29031008/identification-of-a-novel-homozygous-trappc9-gene-mutation-causing-non-syndromic-intellectual-disability-speech-disorder-and-secondary-microcephaly
#7
Ansar A Abbasi, Kathrin Blaesius, Hao Hu, Zahid Latif, Sylvie Picker-Minh, Muhammad N Khan, Sundas Farooq, Muzammil A Khan, Angela M Kaindl
TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world-wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non-syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c...
October 14, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29029963/genetic-risk-factors-in-finnish-patients-with-parkinson-s-disease
#8
Susanna Ylönen, Ari Siitonen, Michael A Nalls, Pauli Ylikotila, Jaana Autere, Johanna Eerola-Rautio, Raphael Gibbs, Mikko Hiltunen, Pentti J Tienari, Hilkka Soininen, Andrew B Singleton, Kari Majamaa
INTRODUCTION: Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. Our aim was to analyze how variation in these genes contributes to PD in the Finnish population. METHODS: The subjects consisted of 527 Finnish patients with early-onset PD, 325 patients with late-onset PD and 403 population controls...
September 29, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29028887/identification-of-cancer-driver-genes-in-focal-genomic-aberrations-from-whole-exome-sequencing-data
#9
Ho Jang, Hyunju Lee
Summary: Whole-exome sequencing (WES) data have been used for identifying copy number aberrations in cancer cells. Nonetheless, the use of WES is still challenging for identification of focal aberrant regions in multiple samples that may contain cancer driver genes. In this study, we developed a wavelet-based method for identifying focal genomic aberrant regions in the WES data from cancer cells (WIFA-X). When we applied WIFA-X to glioblastoma multiforme and lung adenocarcinoma datasets, WIFA-X outperformed other approaches on identifying cancer driver genes...
September 28, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29027470/next-generation-sequencing-applications-for-cardiovascular-disease
#10
Samira Kalayinia, Hamidreza Goodarzynejad, Majid Maleki, Nejat Mahdieh
The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs)...
October 13, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#11
Majdi Nagara, Gregori Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Voskarides Konstantinos, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024827/left-ventricular-non-compaction-with-ebstein-anomaly-attributed-to-a-tpm1-mutation
#12
Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and two others with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#13
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29017965/a-novel-mutation-in-haus7-results-in-severe-oligozoospermia-in-two-brothers
#14
Lin Li, Yan-Wei Sha, Zhi-Ying Su, Li-Bin Mei, Zhi-Yong Ji, Qing Zhang, Shao-Bin Lin, Xu Wang, Ping-Ping Qiu, Ping Li, Chenghong Yin
Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.G386T:p.G129V), an X-linked gene. HAUS7 has been reported to play a role in the meiotic maturation and chromosome alignment of germ cells. The two patients inherited this variant from their mother, and this variant was considered to be a highly pathogenic mutation by in silico analysis...
October 7, 2017: Gene
https://www.readbyqxmd.com/read/29017326/mechanism-of-nakamura-s-bisphosphine-iron-catalyzed-asymmetric-c-sp2-c-sp3-cross-coupling-reaction-the-role-of-spin-in-controlling-arylation-pathways
#15
Wes Lee, Jun Zhou, Osvaldo Gutierrez
Quantum mechanical calculations are employed to investigate the mechanism and origin of stereoinduction in asymmetric iron-catalyzed C(sp2)-C(sp3) cross-coupling reaction between Grignard reagents and α-chloroesters. A coherent mechanistic picture of this transformation and model for stereoinduction is revealed. These results have broad implications for understanding the mechanisms of iron-catalyzed cross-coupling reactions and rational design of novel iron-based catalysts for asymmetric transformations.
October 11, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28986867/genetic-and-functional-analysis-of-grin2a-in-tumor-samples
#16
Todd D Prickett, Jared J Gartner, Yardena Samuels
Ionotropic glutamate receptors (iGluRs) are large integral membrane multi-protein complexes that create ion channels in plasma membranes. Upon binding of receptor specific ligands (e.g., glutamate), increased efflux or influx of mono- or divalent cations (e.g., Ca(2+)) promotes synaptic transmission, cellular migration, and survival. Three classes of iGluRs were originally defined after their respective agonists: AMPA, kainate, and NMDA receptors (NMDARs). Recently, we examined iGluR families at the genetic level using Next-Generation Sequencing (NGS) (whole-exome sequencing (WES)) and discovered a high prevalence of somatic mutations within the gene for one of the NMDAR subunits, GRIN2A, specifically in malignant melanoma...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28981921/-mutational-analysis-and-prenatal-diagnosis-in-a-family-affected-with-hypophosphatemic-rickets
#17
Zhaotang Luan, Huanzheng Li, Lin Hu, Chong Chen, Xueqin Xu, Yanbao Xiang, Shaohua Tang
OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981474/the-genetic-basis-of-pericentral-retinitis-pigmentosa-a-form-of-mild-retinitis-pigmentosa
#18
Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A Sandberg, Daniel Navarro-Gomez, Eric A Pierce
Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES)...
October 5, 2017: Genes
https://www.readbyqxmd.com/read/28981421/erds-exome-a-hybrid-approach-for-copy-number-variant-detection-from-whole-exome-sequencing-data
#19
Renjie Tan, Jixuan Wang, Xiaoliang Wu, Liran Juan, Likun Zheng, Rui Ma, Qing Zhan, Tao Wang, Shuilin Jin, Qinghua Jiang, Yadong Wang
Copy number variants (CNVs) play important roles in human disease and evolution. With the rapid development of next-generation sequencing technologies, many tools have been developed for inferring CNVs based on whole-exome sequencing (WES) data. However, as a result of the sparse distribution of exons in the genome, the limitations of the WES technique, and the nature of high-level signal noises in WES data, the efficacy of these variants remains less than desirable. Thus, there is need for the development of an effective tool to achieve a considerable power in WES CNVs discovery...
October 4, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28979898/a-novel-mutation-in-foxc1-in-a-lebanese-family-with-congenital-heart-disease-and-anterior-segment-dysgenesis-potential-roles-for-nfatc1-and-dpt-in-the-phenotypic-variations
#20
Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer, Mariam Arabi
Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD...
2017: Frontiers in Cardiovascular Medicine
keyword
keyword
97950
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"