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"Chromosome 18"

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https://www.readbyqxmd.com/read/28081566/a-novel-phytophthora-sojae-resistance-rps12-gene-mapped-to-a-genomic-region-that-contains-several-rps-genes
#1
Dipak K Sahoo, Nilwala S Abeysekara, Silvia R Cianzio, Alison E Robertson, Madan K Bhattacharyya
Phytophthora sojae Kaufmann and Gerdemann, which causes Phytophthora root rot, is a widespread pathogen that limits soybean production worldwide. Development of Phytophthora resistant cultivars carrying Phytophthora resistance Rps genes is a cost-effective approach in controlling this disease. For this mapping study of a novel Rps gene, 290 recombinant inbred lines (RILs) (F7 families) were developed by crossing the P. sojae resistant cultivar PI399036 with the P. sojae susceptible AR2 line, and were phenotyped for responses to a mixture of three P...
2017: PloS One
https://www.readbyqxmd.com/read/28073183/a-liver-specific-long-non-coding-rna-with-a-role-in-cell-viability-is-elevated-in-human-non-alcoholic-steatohepatitis
#2
Biljana Atanasovska, Sander S Rensen, Marijke R van der Sijde, Glenn Marsman, Vinod Kumar, Iris Jonkers, Sebo Withoff, Ronit Shiri-Sverdlov, Jan Willem M Greve, Klaas Nico Faber, Han Moshage, Cisca Wijmenga, Bart van de Sluis, Marten H Hofker, Jingyuan Fu
: Hepatocyte apoptosis in non-alcoholic steatohepatitis (NASH) can lead to fibrosis and cirrhosis, which permanently damage the liver. Understanding the regulation of hepatocyte apoptosis is therefore important to identify therapeutic targets that may prevent the progression of NASH to fibrosis. Recently, increasing evidence has shown that lncRNAs are involved in various biological processes and that their dysregulation underlies a number of complex human diseases. By performing gene expression profiling of 4,383 lncRNAs in 82 liver samples from individuals with NASH (n=48), simple steatosis but no NASH (n=11) and healthy controls (n=23), we discovered a liver-specific lncRNA (RP11-484N16...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28043905/association-of-liver-injury-from-specific-drugs-or-groups-of-drugs-with-polymorphisms-in-hla-and-other-genes-in-a-genome-wide-association-study
#3
Paola Nicoletti, Guruprasad P Aithal, Einar S Bjornsson, Raul J Andrade, Ashley Sawle, Marco Arrese, Huiman X Barnhart, Emmanuelle Bondon-Guitton, Paul H Hayashi, Fernando Bessone, Alfonso Carvajal, Ingolf Cascorbi, Elizabeth T Cirulli, Naga Chalasani, Anita Conforti, Sally A Coulthard, Mark J Daly, Christopher P Day, John F Dillon, Robert J Fontana, Jane I Grove, Pär Hallberg, Nelia Hernández, Luisa Ibáñez, Gerd A Kullak-Ublick, Tarja Laitinen, Dominique Larrey, M Isabel Lucena, Anke H Maitland-van der Zee, Jennifer H Martin, Mariam Molokhia, Munir Pirmohamed, Elizabeth E Powell, Shengying Qin, Jose Serrano, Camilla Stephens, Andrew Stolz, Mia Wadelius, Paul B Watkins, Aris Floratos, Yufeng Shen, Matthew R Nelson, Thomas J Urban, Ann K Daly
BACKGROUND & AIMS: We performed a genome-wide association study (GWAS) to identify genetic risk factors for drug-induced liver injury (DILI) from licensed drugs without previously reported genetic risk factors. METHODS: We performed a GWAS of 862 persons with DILI and 10588 population-matched controls. The first set of cases was recruited prior to May 2009 in Europe (n=137) or the USA (n=274). The second set of cases were identified from May 2009 through May 2013 from international collaborative studies performed in Europe, the USA and South America...
December 30, 2016: Gastroenterology
https://www.readbyqxmd.com/read/28003516/linking-maternal-and-somatic-5s-rrna-types-with-different-sequence-specific-non-ltr-retrotransposons
#4
Mauro D Locati, Johanna F B Pagano, Wim A Ensink, Marina van Olst, Selina van Leeuwen, Ulrike Nehrdich, Kongju Zhu, Herman P Spaink, Geneviève Girard, Han Rauwerda, Martijs J Jonker, Rob J Dekker, Timo M Breit
5S rRNA is a ribosomal core component, transcribed from many gene copies organized in genomic repeats. Some eukaryotic species have two 5S rRNA types defined by their predominant expression in oogenesis or adult tissue. Our next-generation sequencing study on zebrafish egg, embryo and adult tissue, identified maternal-type 5S rRNA that is exclusively accumulated during oogenesis, replaced throughout the embryogenesis by a somatic-type, and thus virtually absent in adult somatic tissue. The maternal-type 5S rDNA contains several thousands of gene copies on chromosome 4 in tandem repeats with small intergenic regions, whereas the somatic-type is present in only 12 gene copies on chromosome 18 with large intergenic regions...
December 21, 2016: RNA
https://www.readbyqxmd.com/read/27928465/gene-expression-and-pathway-analysis-of-ctnnb1-in-cancer-and-stem-cells
#5
Shihori Tanabe, Takeshi Kawabata, Kazuhiko Aoyagi, Hiroshi Yokozaki, Hiroki Sasaki
AIM: To investigate β-catenin (CTNNB1) signaling in cancer and stem cells, the gene expression and pathway were analyzed using bioinformatics. METHODS: The expression of the catenin β 1 (CTNNB1) gene, which codes for β-catenin, was analyzed in mesenchymal stem cells (MSCs) and gastric cancer (GC) cells. Beta-catenin signaling and the mutation of related proteins were also analyzed using the cBioPortal for Cancer Genomics and HOMology modeling of Complex Structure (HOMCOS) databases...
November 26, 2016: World Journal of Stem Cells
https://www.readbyqxmd.com/read/27914767/smad-4-gene-expression-in-human-colorectal-cancer-comparison-with-some-clinical-and-pathological-parameters
#6
Agnieszka Wosiak, Damian Wodziński, Marcin Kolasa, Aleksandra Sałagacka-Kubiak, Ewa Balcerczak
The aim of this study was to evaluate the expression of SMAD-4 gene in cases of colorectal cancer and to link the obtained data with the development of this disease. SMAD-4 gene is responsible for the control of many important cellular processes, for example prevention of excessive epithelial cell growth and divisions. This suppressor gene is located on chromosome 18 within the region with frequent genetic losses in colorectal cancer. Inactivation of this gene is commonly found in pancreatic cancer where the SMAD-4 gene lost in the expression has been associated with a poor prognosis in this cancer...
January 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27908601/corrigendum-to-a-pregnancy-with-discordant-fetal-and-placental-chromosome-18-aneuploidies-revealed-by-invasive-and-noninvasive-prenatal-diagnosis-reproductive-biomedicine-online-29-2014-136-139
#7
Chong Chen, David S Cram, Fanni Xie, Ping Wang, Xueqin Xu, Huanzheng Li, Zhuo Song, Di Chen, Jianguang Zhang, Shaohua Tang
No abstract text is available yet for this article.
November 28, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27899641/3d-genome-structure-modeling-by-lorentzian-objective-function
#8
Tuan Trieu, Jianlin Cheng
The 3D structure of the genome plays a vital role in biological processes such as gene interaction, gene regulation, DNA replication and genome methylation. Advanced chromosomal conformation capture techniques, such as Hi-C and tethered conformation capture, can generate chromosomal contact data that can be used to computationally reconstruct 3D structures of the genome. We developed a novel restraint-based method that is capable of reconstructing 3D genome structures utilizing both intra-and inter-chromosomal contact data...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27869431/-deletion-on-the-short-arm-of-chromosome-18-syndrome-diagnosed-by-array-comparative-genomic-hybridization-presentation-of-one-case-with-a-mild-phenotype
#9
Harry Pachajoa
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27825921/familial-small-intestine-carcinoids-chromosomal-alterations-and-germline-inositol-polyphosphate-multikinase-sequencing
#10
Louis de Mestier, Eric Pasmant, Clémence Fleury, Hedia Brixi, Pierre Sohier, Thomas Féron, Marie-Danièle Diebold, Eric Clauser, Guillaume Cadiot
BACKGROUND: Familial small-intestine neuroendocrine tumors (SI-NETs) are an exceptional inherited entity. Underlying predisposing mechanisms are unelucidated, but inositol polyphosphate multikinase (IPMK) gene alterations might promote their tumorigenesis. METHODS: A retrospective-prospective nationwide cohort was constituted, by including patients with proven SI-NETs and at least one relative with the same disease. We performed constitutional and somatic IPMK sequencing, and somatic DNA comparative genomic hybridization (CGH)...
January 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27816938/genome-wide-association-study-of-parental-life-span
#11
Toshiko Tanaka, Ambarish Dutta, Luke C Pilling, Luting Xue, Kathryn L Lunetta, Joanne M Murabito, Stefania Bandinelli, Robert Wallace, David Melzer, Luigi Ferrucci
BACKGROUND: Having longer lived parents has been shown to be an important predictor of health trajectories and life span. As such, parental life span is an important phenotype that may uncover genes that affect longevity. METHODS: A genome-wide association study of parental life span in participants of European and African ancestry from the Health and Retirement Study was conducted. RESULTS: A genome-wide significant association was observed for rs35715456 (log10BF = 6...
November 5, 2016: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/27766118/interstitial-de-novo-18q22-3q23-deletion-clinical-neuroradiological-and-molecular-characterization-of-a-new-case-and-review-of-the-literature
#12
Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco, Paolo Picco
BACKGROUND: Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, growth retardation, bilateral vertical talus, congenital aural atresia, dysmorphisms, mild psychomotor delay, and peculiar neuroradiological features. Array-CGH analysis revealed one of the smallest 18q22...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27738543/melanocortin-4-receptor-deficiency-phenotype-with-an-interstitial-18q-deletion-a-case-report-of-severe-childhood-obesity-and-tall-stature
#13
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27687164/genome-wide-association-studies-of-immune-disease-and-production-traits-in-indigenous-chicken-ecotypes
#14
Androniki Psifidi, Georgios Banos, Oswald Matika, Takele T Desta, Judy Bettridge, David A Hume, Tadelle Dessie, Rob Christley, Paul Wigley, Olivier Hanotte, Pete Kaiser
BACKGROUND: The majority of chickens in sub-Saharan Africa are indigenous ecotypes, well adapted to the local environment and raised in scavenging production systems. Although they are generally resilient to disease challenge, routine vaccination and biosecurity measures are rarely applied and infectious diseases remain a major cause of mortality and reduced productivity. Management and genetic improvement programmes are hampered by lack of routine data recording. Selective breeding based on genomic technologies may provide the means to enhance sustainability...
September 29, 2016: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/27684804/a-case-report-of-pancreatic-metastasis-from-synovial-sarcoma-successfully-treated-by-metastasectomy-with-adjuvant-chemotherapy
#15
Yuki Makino, Minoru Shigekawa, Tadashi Kegasawa, Takahiro Suda, Teppei Yoshioka, Kiyoshi Iwahashi, Kenji Ikezawa, Ryotaro Sakamori, Takayuki Yakushijin, Jun Kajihara, Yoshito Tomimaru, Hidetoshi Eguchi, Yoshinori Imura, Hidetatsu Outani, Norifumi Naka, Keiichiro Honma, Eiichi Morii, Tomohide Tatsumi, Naoki Hiramatsu, Tetsuo Takehara
INTRODUCTION: Synovial sarcoma is a malignant soft tissue sarcoma which arises near joints. The most frequent metastasis sites of synovial sarcoma are the lungs, lymph nodes, and bone. Pancreatic metastasis is quite rare; only 3 cases have been reported worldwide to date. We herein present the 4th case of pancreatic metastasis from synovial sarcoma. METHODS AND RESULTS: A 32-year-old man underwent extended excision of synovial sarcoma in the left pelvis and femur in 2009...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27683878/transcriptional-fingerprint-of-hypomyelination-in-zfp191null-and-shiverer-mbpshi-mice
#16
Joshua D Aaker, Benayahu Elbaz, Yuwen Wu, Timothy J Looney, Li Zhang, Bruce T Lahn, Brian Popko
The transcriptional program that controls oligodendrocyte maturation and central nervous system (CNS) myelination has not been fully characterized. In this study, we use high-throughput RNA sequencing to analyze how the loss of a key transcription factor, zinc finger protein 191 (ZFP191), results in oligodendrocyte development abnormalities and CNS hypomyelination. Using a previously described mutant mouse that is deficient in ZFP191 protein expression (Zfp191(null)), we demonstrate that key transcripts are reduced in the whole brain as well as within oligodendrocyte lineage cells cultured in vitro To determine whether the loss of myelin seen in Zfp191(null) mice contributes indirectly to these perturbations, we also examined the transcriptome of a well-characterized mouse model of hypomyelination, in which the myelin structural protein myelin basic protein (MBP) is deficient...
October 2016: ASN Neuro
https://www.readbyqxmd.com/read/27633903/a-boy-with-partial-dup-18q-del-18p-due-to-a-maternal-pericentric-inversion-genotype-phenotype-correlation-and-risk-of-recombinant-chromosomes-based-on-systematic-review-of-the-literature
#17
REVIEW
Elaine Lustosa-Mendes, Ana Paula Dos Santos, Nilma Lúcia Viguetti-Campos, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27595127/dataset-of-target-mass-spectromic-proteome-profiling-for-human-chromosome-18
#18
Ekaterina V Ilgisonis, Arthur T Kopylov, Victor G Zgoda
Proteome profiling is a type of quantitative analysis that reveals level of protein expression in the sample. Proteome profiling by using selected reaction monitoring is an approach for the Chromosome-centric Human Proteome Project (C-HPP). Here we describe dataset generated in the course of the pilot phase of Russian part of C-HPP, which was focused on human Chr 18 proteins. Proteome profiling was performed using stable isotope-labeled standards (SRM/SIS) for plasma, liver tissue and HepG2 cells. Dataset includes both positive and negative results of protein detection...
September 2016: Data in Brief
https://www.readbyqxmd.com/read/27589727/integrative-analysis-of-metabolomic-proteomic-and-genomic-data-to-reveal-functional-pathways-and-candidate-genes-for-drip-loss-in-pigs
#19
Julia Welzenbach, Christiane Neuhoff, Hanna Heidt, Mehmet Ulas Cinar, Christian Looft, Karl Schellander, Ernst Tholen, Christine Große-Brinkhaus
The aim of this study was to integrate multi omics data to characterize underlying functional pathways and candidate genes for drip loss in pigs. The consideration of different omics levels allows elucidating the black box of phenotype expression. Metabolite and protein profiling was applied in Musculus longissimus dorsi samples of 97 Duroc × Pietrain pigs. In total, 126 and 35 annotated metabolites and proteins were quantified, respectively. In addition, all animals were genotyped with the porcine 60 k Illumina beadchip...
August 30, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27582748/genome-wide-association-study-of-resistance-to-soybean-cyst-nematode-heterodera-glycines-hg-type-2-5-7-in-wild-soybean-glycine-soja
#20
Hengyou Zhang, Chunying Li, Eric L Davis, Jinshe Wang, Joshua D Griffin, Janice Kofsky, Bao-Hua Song
Soybean cyst nematode (SCN) is the most destructive soybean pest worldwide. Host plant resistance is the most environmentally friendly and cost-effective way of mitigating SCN damage to soybeans. However, overuse of the resistant soybean [Glycine max (L.) Merr.] cultivars from limited genetic resources has resulted in SCN race shifts in many soybean-growing areas. Thus, exploration of novel sources of SCN resistance and dissection of the genetic basis are urgently needed. In this study, we screened 235 wild soybean (Glycine soja Sieb...
2016: Frontiers in Plant Science
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