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https://www.readbyqxmd.com/read/28431061/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#1
Julien Thevenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean-Christophe Eicher, Juliette Albuisson, Michel Desnos, Eric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon-Kopp, Elodie Gautier, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard
Aims: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations. Methods and Results: A cohort of 34 patients from 9 families was recruited between 2001 and 2010...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#2
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430339/characterization-of-a-rare-nonpathogenic-sequence-variant-c-1905c-t-of-the-dihydropyrimidine-dehydrogenase-gene-dpyd
#3
Raffaele Palmirotta, Domenica Lovero, Erica Silvestris, Claudia Carella, Claudia Felici, Davide Quaresmini, Paola Cafforio, Franco Silvestris
BACKGROUND: In the era of precision medicine, the suitability of fluoropyrimidine therapies in clinical oncology can be checked by pharmacogenetic investigations of single patients, thus optimizing resources and indicating the appropriate drugs to personalize their chemotherapy. For example, the presence of dihydropyrimidine dehydrogenase gene (DPYD) polymorphisms in cancer patients may lead to adverse effects when adopting fluoropyrimidine-based therapies. METHODS: We detected in a cancer patient a rare germline synonymous heterozygous variant of DPYD (c...
April 11, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28429786/comprehensive-assessment-showed-no-associations-of-variants-at-the-slc10a1-locus-with-susceptibility-to-persistent-hbv-infection-among-southern-chinese
#4
Ying Zhang, Yuanfeng Li, Miantao Wu, Pengbo Cao, Xiaomin Liu, Qian Ren, Yun Zhai, Bobo Xie, Yanling Hu, Zhibin Hu, Jinxin Bei, Jie Ping, Xinyi Liu, Yinghua Yu, Bingqian Guo, Hui Lu, Guanjun Liu, Haitao Zhang, Ying Cui, Zengnan Mo, Hongbing Shen, Yi-Xin Zeng, Fuchu He, Hongxing Zhang, Gangqiao Zhou
The sodium taurocholate cotransporting polypeptide (NTCP) encoded by SLC10A1 was recently demonstrated to be a functional receptor for hepatitis B virus (HBV). The role of SLC10A1 polymorphisms, particularly the Ser267Phe variant (rs2296651) in exon 4, has been frequently investigated in regard to risk of persistent HBV infection. However, these investigations have generated conflicting results. To examine whether common genetic variation at the SLC10A1 locus is associated with risk of persistent HBV infection, haplotype-tagging and imputed single nucleotide polymorphisms (SNPs) were assessed in two case-control sample sets, totally including 2,550 cases (persistently HBV infected subjects, PIs) and 2,124 controls (spontaneously recovered subjects, SRs) of Southern Chinese ancestry...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28427807/targeted-next-generation-sequencing-in-patients-with-myotonia-congenita
#5
Valentina Ferradini, Marco Cassone, Sara Nuovo, Ilaria Bagni, Rosaria D'Apice, Annalisa Botta, Giuseppe Novelli, Federica Sangiuolo
INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC patients. Samples already Sanger-sequenced were successively evaluated by Next Generation Sequencing (NGS), on Ion Torrent PGM...
April 17, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28425619/analysis-of-mutations-in-the-sos-1-gene-in-two-polish-families-with-hereditary-gingival-fibromatosis
#6
Katarzyna Gawron, Grzegorz Bereta, Zuzanna Nowakowska, Katarzyna Łazarz-Bartyzel, Jan Potempa, Maria Chomyszyn-Gajewska, Renata Górska, Paweł Plakwicz
OBJECTIVES: To establish whether two families from Malopolska and Mazovia Provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. MATERIAL AND METHODS: Six subjects with hereditary gingival fibromatosis and five healthy subjects were enrolled in the study. Gingival biopsies were collected during gingivectomy or tooth extraction and used for histopathological evaluation...
April 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28425244/genetic-association-analysis-of-erbb4-polymorphisms-with-the-risk-ofschizophrenia-susceptibility-in-a-jordanian-population-of-arab-descent
#7
Laith Al-Eitan, Sahar Al-Habahbeh, Rami Alkhatib
BACKGROUND/AIM: The ERBB4 gene encodes a transmembrane tyrosine kinase and is considered to be one of the risk genes of schizophrenia. Although there is evidence of the roles of genes and the environment in the etiology of schizophrenia, a comprehensive biological and genetic background of the disease is still lacking. The aim of this study is to assess whether genetic variation in the human ERBB4 gene is associated with vulnerability to schizophrenia in the Jordanian Arab population...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424412/fbxw7-missense-mutation-a-novel-negative-prognostic-factor-in-metastatic-colorectal-adenocarcinoma
#8
Krittiya Korphaisarn, Van Karlyle Morris, Michael J Overman, David R Fogelman, Bryan K Kee, Kanwal Pratap Singh Raghav, Shanequa Manuel, Imad Shureiqi, Robert A Wolff, Cathy Eng, David Menter, Stanley R Hamilton, Scott Kopetz, Arvind Dasari
BACKGROUND: FBXW7 functions as a ubiquitin ligase tagging multiple dominant oncogenic proteins and commonly mutates in colorectal cancer. Data suggest missense mutations lead to greater loss of FBXW7 function than other gene aberrations do. However, the clinicopathologic factors and outcomes associated with FBXW7 missense mutations in metastatic colorectal cancer (mCRC) have not been described. METHODS: Data were obtained from mCRC patients whose tumors were evaluated by next-generation sequencing for hotspot mutations at The University of Texas MD Anderson Cancer Center...
April 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28424332/improving-genetic-diagnosis-in-mendelian-disease-with-transcriptome-sequencing
#9
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bönnemann, Daniel G MacArthur
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA sequencing (RNA-seq)] as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed rare muscle disorders. We describe an integrated approach to analyze patient muscle RNA-seq, leveraging an analysis framework focused on the detection of transcript-level changes that are unique to the patient compared to more than 180 control skeletal muscle samples...
April 19, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28424201/pik3ca-mutations-contribute-to-acquired-cetuximab-resistance-in-metastatic-colorectal-cancer-patients
#10
Jian Ming Xu, Yan Wang, You-Liang Wang, Yan Wang, Tao Liu, Ming Ni, Man-Sheng Li, Li Lin, Fei-Jiao Ge, Chun Gong, Jun-Yan Gu, Ru Jia, He-Fei Wang, Yu Ling Chen, Rong-Rui Liu, Chuan-Hua Zhao, Zhao-Li Tan, Yang Jin, Yunping Zhu, Shuji Ogino, Zhi Rong Qian
<p>Mutations in KRAS are considered to be the main drivers of acquired resistance to epidermal growth factor receptor (EGFR) blockade in patients with metastatic colorectal cancer (mCRC). However, the potential roles of other genes downstream of the EGFR signaling pathway in conferring acquired resistance has not been extensively investigated.</p> <br /><br />Experimental Design: <p>Using circulating tumor DNA (ctDNA) from patients with mCRC and with acquired cetuximab resistance, we developed a targeted amplicon ultra-deep sequencing method to screen for low-abundance somatic mutations in a panel of genes that encode components of the EGFR signaling pathway...
April 19, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28423877/identification-of-polymorphisms-and-association-of-five-kap-genes-with-sheep-wool-traits
#11
Ablat Sulayman, Amat Mamat, Mahira Taursun, Xi-Xia Huang, Kechuan Tian, Yuezhen Tian, Xinming Xu, Xuefeng Fu
Objective: The objective of this study was to detect and evaluate the associations of possible polymorphisms of six exon regions within five KAP genes (KAP6.1, KAP8.1, KAP8.2, KRTAP9-2 and KAP16.4 [KAP16.4-1 and KAP16.4-2]) with wool traits in 418 Chinese Merino (Xinjiang type) (CMXT) sheep. Methods: The PCR-SSCP (polymerase chain reaction-based single-strand conformation polymorphism), DNA sequencing, and the gene pyramiding effect methods were used to detect the polymorthisms and the association analysis...
March 25, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28421716/identification-of-a-new-hla-dqb1-06-allele-hla-dqb1-06-210-by-monoallelic-sanger-sequencing
#12
E Kuzmich, A Nasredinova, A Alyanskiy, B Afanasyev
Sequence of the novel allele, HLA-DQB1*06:210, differs from HLA-DQB1*06:03:01 by 1 nucleotide exchange in exon 2.
April 18, 2017: HLA
https://www.readbyqxmd.com/read/28421464/a-novel-tp53-mutation-associated-with-twist1-and-sip1-expression-in-an-aggressive-adrenocortical-carcinoma
#13
Daniel Bulzico, Davi Coe Torres, Gerson Moura Ferreira, Bruno Ricardo Barreto Pires, Paulo Antônio Silvestre de Faria, Rocio Hassan, Eliana Abdelhay, Mario Vaisman, Leonardo Vieira Neto
Adrenocortical carcinomas (ACC) are very rare tumors related to TP53 mutations mostly in childhood onset cases. Epithelial-mesenchymal transition (EMT) transcription factors TWIST1 and Smad interacting protein 1 (SIP1) are related to poorer outcomes in other malignancies, but their role in ACC is unknown. We describe a case of an advanced metastatic ACC (Weiss-score of 9) in a patient at age 76. After primary tumor resection, mitotane therapy was started as palliation to low-volume liver metastasis. After a 2-year period of stable disease, the patient died due to brain metastasis...
April 18, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28421086/association-analysis-of-markers-derived-from-starch-biosynthesis-related-genes-with-starch-physicochemical-properties-in-the-usda-rice-mini-core-collection
#14
Kehu Li, Jinsong Bao, Harold Corke, Mei Sun
Rice eating and cooking quality is largely determined by starch physicochemical properties. The diverse accessions in the USDA rice mini-core collection (URMC) facilitate extensive association analysis of starch physicochemical properties with molecular markers specific to starch biosynthesis related genes. To identify significant trait-marker associations that can be utilized in rice breeding programs for improved starch quality, we conducted two association analyses between 26 molecular markers derived from starch biosynthesis related genes and 18 parameters measured of starch physicochemical properties in two sets of the mini-core accessions successfully grown in two environments in China...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28420808/sequence-variations-in-estrogen-receptor-1-and-2-genes-and-their-association-with-egg-production-traits-in-chinese-dagu-chickens
#15
Xiaotian Niu, Thobela Louis Tyasi, Ning Qin, Dehui Liu, Hongyan Zhu, Xiaoxia Chen, Fengwei Zhang, Shuguo Yuan, Rifu Xu
Estrogen receptors α (ESR1) and β (ESR2) play central roles in folliculogenesis, and therefore in reproductive biology. In the present study, two single nucleotide polymorphisms (SNPs) were identified in the ESR1 and ESR2 genes using PCR-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. One of the identified SNPs, a T1101C transition located within exon 4 of the ESR1 gene, was significantly associated with hen-housed egg production (HHEP) at 30, 43, 57 and 66 weeks of age (P<0.05), and egg weight (EW) at 30 weeks (P<0...
April 15, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28420620/identification-of-lrp5-mutations-in-families-with-familial-exudative-vitreoretinopathy
#16
Liu Yuqing, Zhu Xiong, Li Shujin, Yang Yeming, Yang Mu, Zhao Peiquan, Zhu Xianjun
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of periphery retinal vessels. However, the clinical phenotypes of FEVR vary widely from asymptomatic to complete blindness. We analyzed patients from three Chinese families and one sporadic patient with FEVR to investigate the clinical features and disease-causing mutations. Ocular phenotypes included increased ramification of the peripheral retinal vessels, a peripheral avascular zone, inferotemporal dragging of the optic disc and macula, and retinal folds...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28420616/aberrant-rna-splicing-as-the-molecular-basis-of-some-pathogenic-variants
#17
Zou Yongxin, Gong Yaoqin
Identification and correct classification of disease-associated mutations are essential for molecular diagnosis and clinical management of many genetic disorders. Although next-generation sequencing has greatly accelerated the detection of nucleotide changes, the biological interpretation of most variants has become a real challenge. Moreover, attention is typically paid to protein-coding changes and the potential impact of exonic variants on RNA splicing is often ignored. There is increasing evidence showing that disease-causing aberrant RNA splicing is more widespread than currently appreciated...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28419986/hypodysfibrinogenemia-with-a-heterozygous-mutation-of-%C3%AE-cys326ser-by-the-novel-transversion-of-tgt-to-tct-in-a-patient-with-pulmonary-thromboembolism-and-right-ventricular-thrombus
#18
Akiko Ushijima, Taichi Komai, Atsuko Masukawa, Keiko Oikawa, Norishige Morita, Satomi Asai, Saki Mukai, Nobuo Okumura, Yoshinori Kobayashi, Hayato Miyachi
We encountered a 45-year-old Japanese man who suffered from pulmonary thromboembolism and huge right ventricular thrombus after inferior vena cava (IVC) filter implantation without apparent thrombus in either the deep veins or inside the IVC filter. The biochemical data showed a discrepancy in the level of fibrinogen between the immunological and thrombin time methods, suggesting hypodysfibrinogenemia. The sequencing of the fibrinogen γ-chain gene (FGG) revealed a novel heterozygous missense mutation in exon 8 - a TGT to TCT transversion in codon 326 - resulting in an amino acid substitution of serine for cysteine (γCys326Ser)...
April 19, 2017: Cardiology
https://www.readbyqxmd.com/read/28419980/evaluation-of-glut1-variation-in-non-acquired-focal-epilepsy
#19
Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand
Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years...
April 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28419837/identification-and-molecular-cloning-of-novel-transcripts-of-the-human-kallikrein-related-peptidase-10-klk10-gene-using-next-generation-sequencing
#20
Panagiotis G Adamopoulos, Christos K Kontos, Andreas Scorilas
Kallikreins (KLKs) form the largest group of serine proteases in the human genome sharing many structural and functional characteristics. Multiple alternative transcripts have been reported for most human KLKs, while many of them have been found aberrantly expressed in various human malignancies, thus possessing significant prognostic or/and diagnostic value. Alternative splicing of cancer-related genes is a common cellular mechanism accounting for cancer cell transcriptome complexity, as it affects cell cycle control, proliferation, apoptosis, invasion, and metastasis...
April 15, 2017: Biochemical and Biophysical Research Communications
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