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https://www.readbyqxmd.com/read/29166617/spatiotemporal-proteomic-profiling-of-huntington-s-disease-inclusions-reveals-widespread-loss-of-protein-function
#1
Fabian Hosp, Sara Gutiérrez-Ángel, Martin H Schaefer, Jürgen Cox, Felix Meissner, Mark S Hipp, F-Ulrich Hartl, Rüdiger Klein, Irina Dudanova, Matthias Mann
Aggregation of polyglutamine-expanded huntingtin exon 1 (HttEx1) in Huntington's disease (HD) proceeds from soluble oligomers to late-stage inclusions. The nature of the aggregates and how they lead to neuronal dysfunction is not well understood. We employed mass spectrometry (MS)-based quantitative proteomics to dissect spatiotemporal mechanisms of neurodegeneration using the R6/2 mouse model of HD. Extensive remodeling of the soluble brain proteome correlated with insoluble aggregate formation during disease progression...
November 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/29165356/fast-detection-of-a-brca2-large-genomic-duplication-by-next-generation-sequencing-as-a-single-procedure-a-case-report
#2
Marcella Nunziato, Flavio Starnone, Barbara Lombardo, Matilde Pensabene, Caterina Condello, Francesco Verdesca, Chiara Carlomagno, Sabino De Placido, Lucio Pastore, Francesco Salvatore, Valeria D'Argenio
The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method...
November 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29164808/a-universal-approach-to-correct-various-hbb-gene-mutations-in-human-stem-cells-for-gene-therapy-of-beta-thalassemia-and-sickle-cell-disease
#3
Liuhong Cai, Hao Bai, Vasiliki Mahairaki, Yongxing Gao, Chaoxia He, Yanfei Wen, You-Chuan Jin, You Wang, Rachel L Pan, Armaan Qasba, Zhaohui Ye, Linzhao Cheng
Beta-thalassemia is one of the most common recessive genetic diseases, caused by mutations in the HBB gene. Over 200 different types of mutations in the HBB gene containing three exons have been identified in patients with β-thalassemia (β-thal) whereas a homozygous mutation in exon 1 causes sickle cell disease (SCD). Novel therapeutic strategies to permanently correct the HBB mutation in stem cells that are able to expand and differentiate into erythrocytes producing corrected HBB proteins are highly desirable...
November 21, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#4
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29163333/mutation-analysis-of-consanguineous-moroccan-patients-with-parkinson-s-disease-combining-microarray-and-gene-panel
#5
Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage
During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with PRKN and PINK1 being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common LRRK2 G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the PRKN gene using Affymetrix Cytoscan HD microarray...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29162908/human-canonical-cd157-bst1-is-an-alternatively-spliced-isoform-masking-a-previously-unidentified-primate-specific-exon-included-in-a-novel-transcript
#6
Enza Ferrero, Nicola Lo Buono, Simona Morone, Rossella Parrotta, Cecilia Mancini, Alfredo Brusco, Alice Giacomino, Stefania Augeri, Antonio Rosal-Vela, Sonia García-Rodríguez, Mercedes Zubiaur, Jaime Sancho, Alessandra Fiorio Pla, Ada Funaro
CD157/Bst1 is a dual-function receptor and β-NAD(+)-metabolizing ectoenzyme of the ADP-ribosyl cyclase family. Expressed in human peripheral blood neutrophils and monocytes, CD157 interacts with extracellular matrix components and regulates leukocyte diapedesis via integrin-mediated signalling in inflammation. CD157 also regulates cell migration and is a marker of adverse prognosis in epithelial ovarian cancer and pleural mesothelioma. One form of CD157 is known to date: the canonical sequence of 318 aa from a 9-exon transcript encoded by BST1 on human chromosome 4...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29162666/molecular-characterization-and-expression-analysis-of-cs%C3%AE-%C3%AE-defensin-genes-from-the-scorpion-mesobuthus-martensii
#7
Yange Lang, Xiaohuan Pi, Zhiyong Di, Quian Zhang, Huijuan Wang, Bingzheng Shen, Fangfang Li, Gaomin Liu, Yao Yu, Xuan Li, Yingliang Wu, Wenxin Li, Zhijian Cao
Defensins are important components of innate host defence system against bacteria, fungi, parasites and viruses. Here, we predicted six potential defensin genes from the genome of the scorpion Mesobuthus martensii and then validated four genes of them via the combination of PCR and genomic sequence analysis. These four scorpion defensin genes share the same gene organization and structure of two exons and one phase-I intron with the GT-AG rule. Conserved motif and phylogenetic analysis showed that they belong to the members of the invertebrate CSαβ defensin family...
November 21, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29162540/genomic-analysis-of-nf-%C3%AE%C2%BAb-signaling-pathway-reveals-its-complexity-in-crassostrea-gigas
#8
Mingjia Yu, Jianming Chen, Yongbo Bao, Jun Li
NF-κB signaling pathway is an evolutionarily conserved pathway that plays highly important roles in several developmental, cellular and immune response processes. With the recent release of the draft Pacific oyster (Crassostra gigas) genome sequence, we have sought to identify the various components of the NF-κB signaling pathway in these mollusks and investigate their gene structure. We further constructed phylogenetic trees to establish the evolutionary relationship of the oyster proteins with their homologues in vertebrates and invertebrates using BLASTX and neighbor-joining method...
November 18, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29162237/inter-individual-gene-variants-associated-with-trabecular-bone-plasticity-a-step-forward-in-the-personal-genomics-of-degenerative-bone-disease
#9
Enrique Caso, Cristina C Sabiers, Daniel López-Guillén, Jaime Caso, Manuel Toledano, Raquel Osorio, Estrella Osorio, Carmen Lozano, Enrique Guerado
Continuing tissue destruction in osteoarthrosis is maintained by molecular pathways related to an unbalanced chondrocyte metabolism, the loss of reactive oxygen species (ROS) homeostasis, increase catabolism in a degraded matrix and the limited response to growth factors due to cell aging. Rare deleterious gene variants driving relevant molecular pathways may play a key role in the pathogenesis and genetic control of common diseases and may also influence the common gene variants observed in GWAS. We use molecular profiling technologies based on massive sequencing of genes to interrogate clinical samples for a variety of molecules involved in the pathogenesis pathways of OA and also to derive new insights for drug targeting discovery at an early stage of the disease...
November 2017: Injury
https://www.readbyqxmd.com/read/29160618/deciphering-the-fine-nucleotide-diversity-of-full-hla-class-i-and-class-ii-genes-in-a-well-documented-population-from-sub-saharan-africa
#10
Thomas Goeury, Lisa Creary, Lydie Brunet, Maxime Galan, Maeva Pasquier, Barbara Kervaire, André Langaney, Jean-Marie Tiercy, Marcelo A Fernández-Viña, José Manuel Nunes, Alicia Sanchez-Mazas
With the aim to understand how NGS improves both our assessment of genetic variation within populations and our knowledge on HLA molecular evolution, we sequenced and analysed 8 HLA loci in a well-documented population from sub-Saharan Africa (Mandenka). The results of full-gene NGS-MiSeq sequencing compared to those obtained by traditional typing techniques or limited sequencing strategies showed that segregating sites located outside exon 2 are crucial to describe not only class I, but also class II population diversity...
November 21, 2017: HLA
https://www.readbyqxmd.com/read/29159607/high-resolution-melting-analysis-hrm-for-mutational-screening-of-dnajc17-gene-in-patients-affected-by-thyroid-dysgenesis
#11
I C Nettore, S Desiderio, E De Nisco, V Cacace, L Albano, N Improda, P Ungaro, M Salerno, A Colao, P E Macchia
BACKGROUND: Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused by alterations in thyroid morphogenesis, defined "thyroid dysgenesis" (TD). TD is generally a sporadic disease but in about 5% of the cases a genetic origin has been demonstrated. Previous studies indicate that Dnajc17 as a candidate modifier gene for hypothyroidism, since it is expressed in the thyroid bud, interacts with NKX2...
November 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#12
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#13
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29158767/screening-of-shox-gene-sequence-variants-in-saudi-arabian-children-with-idiopathic-short-stature
#14
Abdulla A Alharthi, Ehab I El-Hallous, Iman M Talaat, Hamed A Alghamdi, Matar I Almalki, Ahmed Gaber
Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29158629/overexpression-of-lhsornpr1-a-npr1-like-gene-from-the-oriental-hybrid-lily-sorbonne-conferred-enhanced-resistance-to-pseudomonas-syringae-pv-tomato-dc3000-in-arabidopsis
#15
Le Wang, Zhihong Guo, Yubao Zhang, Yajun Wang, Guo Yang, Liu Yang, Li Wang, Ruoyu Wang, Zhongkui Xie
The non-expressor of the pathogenesis-related genes 1 (NPR1) is a master regulator in defense signaling of plants and plays a key role in basal and systemic acquired resistance. In this study, we isolated a NPR1-like gene from the oriental hybrid lily 'Sorbonne' (designated as LhSorNPR1) using rapid amplification of cDNA ends (RACE). The open reading frame of LhSorNPR1 consisted of 1854 bp, encoding a protein of 617 amino acids. Multiple sequence alignment revealed that LhSorNPR1 shares high similarity to NPR1-like proteins and characteristics of the BTB/POZ domain and ankyrin repeats...
October 2017: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
https://www.readbyqxmd.com/read/29158372/enhancing-next-generation-sequencing-guided-cancer-care-through-cognitive-computing
#16
Nirali M Patel, Vanessa V Michelini, Jeff M Snell, Saianand Balu, Alan P Hoyle, Joel S Parker, Michele C Hayward, David A Eberhard, Ashley H Salazar, Patrick McNeillie, Jia Xu, Claudia S Huettner, Takahiko Koyama, Filippo Utro, Kahn Rhrissorrakrai, Raquel Norel, Erhan Bilal, Ajay Royyuru, Laxmi Parida, H Shelton Earp, Juneko E Grilley-Olson, D Neil Hayes, Stephen J Harvey, Norman E Sharpless, William Y Kim
BACKGROUND: Using next-generation sequencing (NGS) to guide cancer therapy has created challenges in analyzing and reporting large volumes of genomic data to patients and caregivers. Specifically, providing current, accurate information on newly approved therapies and open clinical trials requires considerable manual curation performed mainly by human "molecular tumor boards" (MTBs). The purpose of this study was to determine the utility of cognitive computing as performed by Watson for Genomics (WfG) compared with a human MTB...
November 20, 2017: Oncologist
https://www.readbyqxmd.com/read/29157895/a-novel-homozygous-mutation-in-the-fshr-gene-is-causative-for-primary-ovarian-insufficiency
#17
Hongli Liu, Xiaofei Xu, Ting Han, Lei Yan, Lei Cheng, Yingying Qin, Wen Liu, Shidou Zhao, Zi-Jiang Chen
OBJECTIVE: To identify the potential FSHR mutation in a Chinese woman with primary ovarian insufficiency (POI). DESIGN: Genetic and functional studies. SETTING: University-based reproductive medicine center. PATIENT(S): A POI patient, her family members, and another 192 control women with regular menstruation. INTERVENTION(S): Ovarian biopsy was performed in the patient. Sanger sequencing was carried out for the patient, her sister, and parents...
November 18, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#18
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29156616/a-novel-mutation-in-the-fibrinogen-b%C3%AE-chain-c-490g-a-end-of-exon-3-causes-a-splicing-abnormality-and-ultimately-leads-to-congenital-hypofibrinogenemia
#19
Chiaki Taira, Kazuyuki Matsuda, Shinpei Arai, Mitsutoshi Sugano, Takeshi Uehara, Nobuo Okumura
We found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G>A) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G>A mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant mutant fibrinogen. Direct sequencing demonstrated that the mutant RT product was 99 bp longer than the wild-type product, and an extra 99 bases were derived from intron 3...
November 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29155928/modeling-positional-effects-of-regulatory-sequences-with-spline-transformations-increases-prediction-accuracy-of-deep-neural-networks
#20
Žiga Avsec, Mohammadamin Barekatain, Jun Cheng, Julien Gagneur
Motivation: Regulatory sequences are not solely defined by their nucleic acid sequence but also by their relative distances to genomic landmarks such as transcription start site, exon boundaries, or polyadenylation site. Deep learning has become the approach of choice for modeling regulatory sequences because of its strength to learn complex sequence features. However, modeling relative distances to genomic landmarks in deep neural networks has not been addressed. Results: Here we developed spline transformation, a neural network module based on splines to flexibly and robustly model distances...
November 16, 2017: Bioinformatics
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