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Chromosome 9p21

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https://www.readbyqxmd.com/read/28287809/increased-risk-of-chd-in-the-presence-of-rs7865618-a-allele-tehran-lipid-and-glucose-study
#1
Samaneh Matoo, Mohammad Sadegh Fallah, Maryam Sadat Daneshpour, Reyhaneh Mousavi, Bahareh Sedaghati Khayat, Mandana Hasanzad, Fereidoun Azizi
BACKGROUND: Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). This study was carried out to investigate the association of these polymorphisms and CHD in an Iranian population...
March 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28282560/genome-wide-meta-analysis-identifies-novel-loci-of-plaque-burden-in-carotid-artery
#2
Janne Pott, Ralph Burkhardt, Frank Beutner, Katrin Horn, Andrej Teren, Holger Kirsten, Lesca M Holdt, Gerhard Schuler, Daniel Teupser, Markus Loeffler, Joachim Thiery, Markus Scholz
BACKGROUND AND AIMS: Carotid artery plaque is an established marker of subclinical atherosclerosis and common patho-mechanisms with coronary artery disease (CAD) are hypothesized. We aimed to identify genetic variants associated with carotid plaque and to examine the potential shared genetic basis with CAD. METHODS: After investigating the reliability of plaque detection, we performed a genome-wide meta-association study in two independent cohorts (LIFE-Adult, n = 4037 and LIFE-Heart, n = 3152) for carotid plaque score (PS), defined as the sum of the plaque load of common carotid artery and carotid bulb...
February 24, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28276595/a-genetic-variant-in-cdkn2a-b-gene-is-associated-with-the-increased-risk-of-breast-cancer
#3
Soodabeh ShahidSales, Mehraneh Mehramiz, Faezeh Ghasemi, Amir Aledavood, Mehri Shamsi, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND: Breast cancer is among the leading cause of cancer-related-deaths in women, supporting the need for the identification of novel prognostic and predictive biomarkers. Recent studies have identified common genetic variants in a region on chromosome 9p21 associated with an increased risk of developing different cancers. Here, we explored the association of a genetic variant in CDKN2A/B, rs10811661, for the first time in 564 subjects with/without breast cancer. METHOD: Genotyping was performed using TaqMan real time PCR method...
March 9, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28265829/a-multicenter-study-of-a-fluorescence-in-situ-hybridization-probe-set-for-diagnosing-high-grade-dysplasia-and-adenocarcinoma-in-barrett-s-esophagus
#4
John M Poneros, Adam S Faye, Emily G Barr Fritcher, Ananda Sen, Sharmila Anandasabapathy, Robert S Bresalier, Norman Marcon, D Kim Turgeon, Henry Appelman, Daniel Normolle, Larry E Morrison, Dean E Brenner, Kevin C Halling
BACKGROUND AND AIMS: Preliminary single-institution data suggest that fluorescence in situ hybridization (FISH) may be useful for detecting high-grade dysplasia (HGD) and esophageal adenocarcinoma (EA) in patients with Barrett's esophagus (BE). This multicenter study aims to validate the measurement of polysomy (gain of at least two loci) by FISH as a way to discriminate degrees of dysplasia in BE specimens. METHODS: Tissue specimens were collected from four different hospitals and read by both the local pathology department ("Site diagnosis") and a single central pathologist ("Review diagnosis") at a separate institution...
March 6, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28243616/data-on-genotypic-distribution-and-linkage-disequilibrium-of-several-anril-polymorphisms-in-hemodialysis-patients
#5
A Arbiol-Roca, A Padró-Miquel, M Hueso, E Navarro, P Alía-Ramos, M T González-Álvarez, I Rama, J Torras, J M Grinyó, J M Cruzado, N Lloberas
A long non-coding RNA called ANRIL located on chromosome 9p21.3 has been identified as a novel genetic factor associated with cardiovascular disease. Investigation of several single nucleotide polymorphisms (SNPs) of Noncoding Antisense RNA in the INK4 Locus (ANRIL) gene are of particular interest. This article reports data related to the research article entitled: "Association of ANRIL gene polymorphisms with major adverse cardiovascular events in hemodialysis patients" (Arbiol-Roca et al. [1]). Data presented show the genotypic distribution of four selected ANRIL SNPs: rs10757278, rs4977574, rs10757274 and rs6475606 in a cohort constituted by 284 hemodialysis patients...
April 2017: Data in Brief
https://www.readbyqxmd.com/read/28164542/the-clinical-application-of-fluorescence-in-situ-hybridization-in-diagnosing-urothelial-carcinoma
#6
Haijiang Zhou, Yong Yan, Liming Song
BACKGROUND: Chromosomal aberrations in exfoliated urothelial cells have been associated with the development of urothelial carcinoma. This study aimed to evaluate the efficacy of two kinds of fluorescence in situ hybridization (FISH) kit probes in diagnosing urothelial carcinoma (UC). METHODS: From February 2009 through September 2014, urine specimens from 89 consecutive patients with urothelial carcinoma and 11 controls with benign disease were collected and analyzed by means of GP FISH and cytology...
October 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28065479/interaction-between-a-variant-of-cdkn2a-b-gene-with-lifestyle-factors-in-determining-dyslipidemia-and-estimated-cardiovascular-risk-a-step-toward-personalized-nutrition
#7
Mehrane Mehramiz, Faeze Ghasemi, Habibollah Esmaily, Maryam Tayefi, Seyed Mahdi Hassanian, Mahsa Sadeghzade, Fatemeh Sadabadi, Mohsen Moohebati, Mahmoud Reza Azarpazhooh, Seyed Mohammad Reza Parizadeh, Alireza Heidari-Bakavoli, Mohammad Safarian, Mohsen Nematy, Mahmoud Ebrahimi, Mikhail Ryzhikov, Gordon A Ferns, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND & AIMS: Several genome-wide-association-studies have identified genetic variants in a region on chromosome 9p21 that are associated with an increased risk of Cardiovascular disease (CVD) and diabetes. Here we have explored the interaction of a genetic variant of the CDKN2A/B-rs10811661 gene locus with cardiovascular risk factors and environmental-exposures (e.g., diet and physical activity) in 1165 individuals recruited from the Mashhad-Stroke and Heart-Atherosclerotic-Disorders cohort...
December 28, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28058701/correlation-between-chromosome-9p21-locus-deletion-and-prognosis-in-clinically-localized-prostate-cancer
#8
Érika Aparecida Felix de Barros, José Pontes-Junior, Sabrina Thalita Reis, Amanda Eunice Ramos Lima, Isida C Souza, Jose Lucas Salgueiro, Douglas Fontes, Humberto Dellê, Rafael Ferreira Coelho, Nayara Izabel Viana, Kátia Ramos Moreira Leite, William C Nahas, Miguel Srougi
BACKGROUND: Some studies have reported that deletions at chromosome arm 9p occur frequently and represent a critical step in carcinogenesis of some neoplasms. Our aim was to evaluate the deletion of locus 9p21 and chromosomes 3, 7 and 17 in localized prostate cancer (PC) and correlate these alterations with prognostic factors and biochemical recurrence after surgery. METHODS: We retrospectively evaluated surgical specimens from 111 patients with localized PC who underwent radical prostatectomy...
January 5, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28035326/the-new-immortalized-uroepithelial-cell-line-hblak-contains-defined-genetic-aberrations-typical-of-early-stage-urothelial-tumors
#9
Michèle J Hoffmann, Evangelia Koutsogiannouli, Margaretha A Skowron, Maria Pinkerneil, Günter Niegisch, Artur Brandt, Stefanie Stepanow, Harald Rieder, Wolfgang A Schulz
Background: Cell culture models of normal urothelial cells are important for studying differentiation, disease mechanisms and anticancer drug development. Beyond primary cultures with their limitations in lifespan, interindividual heterogeneity and supply, few conditionally immortalized cell lines with limited applicability due to partial transformation or impaired differentiation capacity are available. We describe characteristics of the new spontaneously immortalized cell line HBLAK derived from a primary culture of uroepithelial cells...
October 27, 2016: Bladder Cancer
https://www.readbyqxmd.com/read/27960642/the-role-of-cdkn2a-b-deletions-in-pediatric-acute-lymphoblastic-leukemia
#10
P Carrasco Salas, L Fernández, M Vela, D Bueno, B González, J Valentín, P Lapunzina, A Pérez-Martínez
The CDKN2A/B genes in the 9p21 chromosomal region are frequently involved in human cancer, including pediatric acute lymphoblastic leukemia (ALL). These genes encode 3 proteins that belong to the RB1 and TP53 pathways and act as tumor suppressors by regulating the G1/S checkpoint of the cell cycle. The prognostic value of deletions in the CDKN2A/B locus in ALL is controversial in part due to the limitations of the methodologies used. Further studies with advanced technologies are needed for elucidation. Future studies would also highlight whether CDK4/CDK6 selective inhibitors might be useful therapies for children with these genetic aberrations...
October 2016: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/27913867/comparison-of-different-concepts-for-interpretation-of-chromosomal-aberrations-in-urothelial-cells-detected-by-fluorescence-in-situ-hybridization
#11
COMPARATIVE STUDY
Johannes Mischinger, Lutz Philipp Guttenberg, Jörg Hennenlotter, Georgios Gakis, Stefan Aufderklamm, Steffen Rausch, Eva Neumann, Jens Bedke, Stefan Kruck, Christian Schwentner, Arnulf Stenzl, Tilman Todenhöfer
PURPOSE: Urine fluorescence in situ hybridization (FISH) has become a broadly used marker for noninvasive detection of bladder cancer (BC). However, it has been discussed whether the interpretation algorithm proposed by the manufacturer could be improved. Aim of the present study was to compare alternative evaluation strategies of FISH for detection of BC. METHODS: We included 1048 patients suspicious for BC, who underwent urine FISH examination before cystoscopy (diagnostic cohort)...
April 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/27905995/cdkn2b-methylation-is-associated-with-carotid-artery-calcification-in-ischemic-stroke-patients
#12
Shuyu Zhou, Yumeng Zhang, Li Wang, Zhizhong Zhang, Biyang Cai, Keting Liu, Hao Zhang, Minhui Dai, Lingli Sun, Xiaomeng Xu, Huan Cai, Xinfeng Liu, Guangming Lu, Gelin Xu
BACKGROUND: Cyclin-dependent kinase inhibitor 2A/2B (CDKN2A/2B) near chromosome 9p21 have been associated with both atherosclerosis and artery calcification, but the underlying mechanisms remained largely unknown. Considering that CDKN2A/2B is a frequently reported site for DNA methylation, this study aimed to evaluate whether carotid artery calcification (CarAC) is related to methylation levels of CDKN2A/2B in patients with ischemic stroke. METHODS: DNA methylation levels of CDKN2A/2B were measured in 322 ischemic stroke patients using peripheral blood leukocytes...
December 1, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27846637/analysis-on-the-polymorphism-of-chromosome-region-9p21-and-the-susceptibility-of-carotid-plaque
#13
Jialan Sun, Fenghua Sun, Kang Yang, Ningzhen Fu, Longxuan Li
BACKGROUND: Atherosclerosis is a complicated disease governed by genetic, environmental and vascular risk factors, while its relationship with specific genes is still unclear. In recent days, it has been discovered that the single-nucleotide polymorphisms of chromosomal region 9p21 were relevant with the genetic susceptibility of Atherosclerosis. We aimed to figure out the relativity between the gene polymorphism of region 9p21 (rs10757274, rs7044859, rs4977574 and rs496892) and carotid plaque...
2017: European Neurology
https://www.readbyqxmd.com/read/27822414/differences-in-mek-inhibitor-efficacy-in-molecularly-characterized-low-grade-serous-ovarian-cancer-cell-lines
#14
Marta Llauradó Fernández, Gabriel E DiMattia, Amy Dawson, Sylvia Bamford, Shawn Anderson, Bryan T Hennessy, Michael S Anglesio, Trevor G Shepherd, Clara Salamanca, Josh Hoenisch, Anna Tinker, David G Huntsman, Mark S Carey
Advanced or recurrent low-grade serous ovarian cancers (LGSC) are resistant to conventional systemic treatments. LGSC carry mutations in RAS or RAF, leading to several clinical trials evaluating MEK inhibitors (MEKi). As LGSC cell lines and xenografts have been difficult to establish, little is known about the efficacy and on-target activity of MEKi treatment in this disease. We compared four different MEKi (trametinib, selumetinib, binimetinib and refametinib) in novel LGSC patient-derived cell lines. Molecular characterization of these cells included copy-number variation and hotspot mutational analysis...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27773886/cdkn2b-methylation-and-aortic-arch-calcification-in-patients-with-ischemic-stroke
#15
Shuyu Zhou, Biyang Cai, Zhizhong Zhang, Yumeng Zhang, Li Wang, Keting Liu, Hao Zhang, Lingli Sun, Huan Cai, Guangming Lu, Xinfeng Liu, Gelin Xu
AIM: CDKN2A/2B near chromosome 9p21 has been proposed as a potential genetic etiology for both atherosclerosis and arterial calcification. DNA methylation, which can change the expression of CDKN2A/2B, may be an underlying mechanism for this association. This study aimed to evaluate whether CDKN2A/2B methylation is related to aortic arch calcification (AAC) in patients with ischemic stroke. METHODS: DNA methylation levels of CDKN2A/2B was measured using venous blood samples in 322 patients with ischemic stroke...
October 21, 2016: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/27753829/sy-03-2-pathophysiologic-significance-of-non-coding-rna-in-hypertension
#16
Stephen Harrap
Genetic discovery in blood pressure is generally referenced in relation to protein-coding genes, despite the fact that genes less than 2% of the genome. Recent exploration of the DNA sequences between genes, once called "junk" DNA, has revealed a wealth of transcripts for RNA species that do not encode protein. These non-coding RNAs (ncRNAs) have emerged as dynamic managers of the business of the genome, able to coordinate the expression of genes in time and space to achieve the complexities of normal development and growth...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27721851/association-of-rs10757274-and-rs2383206-polymorphisms-on-9p21-locus-with-coronary-artery-disease-in-turkish-population
#17
Çağrı Yayla, Kaan Okyay, Akın Yılmaz, Asife Şahinarslan, Atiye Seda Yar Sağlam, Azmi Eyiol, Hasan Ata Bolayır, Burak Sezenöz, Sevda Menevşe, Atiye Çengel
BACKGROUND AND OBJECTIVES: Genetic predisposition is an important risk factor for coronary artery disease (CAD). In this study, we aimed to evaluate the impact of rs10757274 and rs2383206 polymorphisms in chromosome 9p21 on presence and severity of CAD in a Turkish population. SUBJECTS AND METHODS: A total of 646 patients who underwent coronary angiography were included in this study. Coronary vessel score and Gensini score were calculated to assess the angiographic severity of CAD...
September 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27642882/sy-03-2-pathophysiologic-significance-of-non-coding-rna-in-hypertension
#18
Stephen Harrap
Genetic discovery in blood pressure is generally referenced in relation to protein-coding genes, despite the fact that genes less than 2% of the genome. Recent exploration of the DNA sequences between genes, once called "junk" DNA, has revealed a wealth of transcripts for RNA species that do not encode protein. These non-coding RNAs (ncRNAs) have emerged as dynamic managers of the business of the genome, able to coordinate the expression of genes in time and space to achieve the complexities of normal development and growth...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27635196/loss-of-heterozygosity-and-microsatellite-instability-as-predictive-markers-among-iranian-esophageal-cancer-patients
#19
Mohammad Mahdi Forghanifard, Elham Emami Vahid, Ezzat Dadkhah, Mehran Gholamin, Samaneh Broumand Noghabi, Martha Ghahraman, Mehdi Farzadnia, Mohammad Reza Abbaszadegan
OBJECTIVES: Variation in microsatellite sequences that are dispersed in the genome has been linked to a deficiency in cellular mismatch repair system and defects in several genes of this system are involved in carcinogenesis. Our aim in this study was to illustrate microsatellite DNA alteration in esophageal cancer. MATERIALS AND METHODS: DNA was extracted from formalin fixed paraffin embedded (FFPE) tissues from surgical and matched margin-normal samples. Microsatellite instability (MSI) and loss of heterozygosity (LOH) were studied in 50 cases of esophageal squamous cell carcinoma (ESCC) by amplifying six microsatellite markers: D13S260 (13q12...
July 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/27590390/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-a-de-novo-unbalanced-reciprocal-translocation-of-der-9-t-9-14-p24-2-q32-11-associated-with-9p-terminal-deletion-and-14q-distal-duplication
#20
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a der(9) chromosome of unknown origin. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 2.593 Mb deletion of 9p24.3-p24.2 encompassing DOCK8, KANK1, DMRT1, and VLDLR and a 16...
August 2016: Taiwanese Journal of Obstetrics & Gynecology
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