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"Chromosome 18"

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https://www.readbyqxmd.com/read/27914767/smad-4-gene-expression-in-human-colorectal-cancer-comparison-with-some-clinical-and-pathological-parameters
#1
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...
October 26, 2016: 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
#2
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
#3
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
#4
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
#5
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)...
October 20, 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27816938/genome-wide-association-study-of-parental-life-span
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
September 15, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27595127/dataset-of-target-mass-spectromic-proteome-profiling-for-human-chromosome-18
#13
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
#14
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...
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
#15
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
https://www.readbyqxmd.com/read/27577874/fine-mapping-novel-loci-identification-and-snp-association-transferability-in-a-genome-wide-association-study-of-qrs-duration-in-african-americans
#16
Daniel S Evans, Christy L Avery, Mike A Nalls, Guo Li, John Barnard, Erin N Smith, Toshiko Tanaka, Anne M Butler, Sarah G Buxbaum, Alvaro Alonso, Dan E Arking, Gerald S Berenson, Joshua C Bis, Steven Buyske, Cara L Carty, Wei Chen, Mina K Chung, Steven R Cummings, Rajat Deo, Charles B Eaton, Ervin R Fox, Susan R Heckbert, Gerardo Heiss, Lucia A Hindorff, Wen-Chi Hsueh, Aaron Isaacs, Yalda Jamshidi, Kathleen F Kerr, Felix Liu, Yongmei Liu, Kurt K Lohman, Jared W Magnani, Joseph F Maher, Reena Mehra, Yan A Meng, Solomon K Musani, Christopher Newton-Cheh, Kari E North, Bruce M Psaty, Susan Redline, Jerome I Rotter, Renate B Schnabel, Nicholas J Schork, Ralph V Shohet, Andrew B Singleton, Jonathan D Smith, Elsayed Z Soliman, Sathanur R Srinivasan, Herman A Taylor, David R Van Wagoner, James G Wilson, Taylor Young, Zhu-Ming Zhang, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Sarah S Murray, Gregory J Tranah, Eric A Whitsel, Alex P Reiner, Nona Sotoodehnia
The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with QRS duration at 22 loci among those of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a GWAS meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent...
August 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27577543/patchy-white-matter-hyperintensity-in-ring-chromosome-18-syndrome
#17
Mai Anzai, Natsuko Arai-Ichinoi, Yusuke Takezawa, Wakaba Endo, Takehiko Inui, Ryo Sato, Atsuo Kikuchi, Mitsugu Uematsu, Shigeo Kure, Kazuhiro Haginoya
Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and long arms. Previously reported brain magnetic resonance imaging (MRI) abnormalities include diffuse hyperintensity in the white matter, which has been regarded as hypomyelination because the gene for myelin basic protein production is located on the long arm of chromosome 18. We report the case of a 14-year-old boy with ring chromosome 18 syndrome, whose MRI showed patchy asymmetrical T2 and fluid-attenuated inversion-recovery hyperintensities in the deep white matter as well as diffuse hypomyelination...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27527821/state-of-the-art-of-chromosome-18-centric-hpp-in-2016-transcriptome-and-proteome-profiling-of-liver-tissue-and-hepg2-cells
#18
Ekaterina V Poverennaya, Arthur T Kopylov, Elena A Ponomarenko, Ekaterina V Ilgisonis, Victor G Zgoda, Olga V Tikhonova, Svetlana E Novikova, Tatyana E Farafonova, Yana Yu Kiseleva, Sergey P Radko, Igor V Vakhrushev, Konstantin N Yarygin, Sergei A Moshkovskii, Olga I Kiseleva, Andrey V Lisitsa, Alexey S Sokolov, Alexander M Mazur, Egor B Prokhortchouk, Konstantin G Skryabin, Elena S Kostrjukova, Alexander V Tyakht, Alexey Yu Gorbachev, Elena N Ilina, Vadim M Govorun, Alexander I Archakov
A gene-centric approach was applied for a large-scale study of expression products of a single chromosome. Transcriptome profiling of liver tissue and HepG2 cell line was independently performed using two RNA-Seq platforms (SOLiD and Illumina) and also by Droplet Digital PCR (ddPCR) and quantitative RT-PCR. Proteome profiling was performed using shotgun LC-MS/MS as well as selected reaction monitoring with stable isotope-labeled standards (SRM/SIS) for liver tissue and HepG2 cells. On the basis of SRM/SIS measurements, protein copy numbers were estimated for the Chromosome 18 (Chr 18) encoded proteins in the selected types of biological material...
August 29, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27525043/genome-wide-array-cgh-and-qpcr-analysis-for-the-identification-of-genome-defects-in-williams-syndrome-patients-in-saudi-arabia
#19
I R Hussein, A Magbooli, E Huwait, A Chaudhary, R Bader, M Gari, F Ashgan, M Alquaiti, A Abuzenadah, M AlQahtani
BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome 7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS patients and to determine the size of the deleted segment at chromosome 7q11...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27496426/bicd1-and-chromosome-18-polymorphisms-associated-with-recipients-telomere-length-affect-kidney-allograft-function-after-transplantation
#20
K Kłoda, L Domański, E Kwiatkowska, K Safranow, A Drozd, A Ciechanowicz, K Ciechanowski
BACKGROUND: Reports regarding recipient's nonmodifiable genetic factors affecting telomerase activity and thus allograft function are lacking. Therefore the aim of this study was to analyze the associations between recipients' rs2735940 hTERT, rs2630578 BICD1, and rs7235755 chromosome 18 polymorphisms and kidney function after transplantation. METHODS: The study enrolled 119 white Polish kidney allograft recipients (64 men, 55 women; overall mean age, 47.3 ± 14...
June 2016: Transplantation Proceedings
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