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Chromosome 9p21

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https://www.readbyqxmd.com/read/28805612/detection-of-paternal-uniparental-disomy-9-in-a-neonate-with-prenatally-detected-mosaicism-for-a-small-supernumerary-marker-chromosome-9-and-a-supernumerary-ring-chromosome-9
#1
Chih-Ping Chen, Ming Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Shun-Ping Chang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)]. MATERIALS AND METHODS: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28713672/bap1-a-tumor-suppressor-gene-driving-malignant-mesothelioma
#2
REVIEW
Mitchell Cheung, Joseph R Testa
Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#3
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28648937/the-correlation-of-the-standard-5-probe-fish-assay-with-melanocytic-tumors-of-uncertain-malignant-potential
#4
Aaron Muhlbauer, Shabnam Momtahen, Martin C Mihm, James Wang, Cynthia M Magro
BACKGROUND: FISH has recently emerged as a technique to better assess the malignant potential of histologically ambiguous melanocytic lesions. However, the usefulness of FISH has not been conclusively established. The purpose of this study was to further explore the diagnostic value of FISH in distinguishing the borderline melanocytic tumor (BMT) from melanoma. METHOD: 73 cases with BMT were analyzed retrospectively from a dermatopathology database between 2010-2015...
June 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28604969/-genetic-study-of-a-fetus-with-9p-direct-duplication-deletion-syndrome
#5
Shanshan Shi, Shaobin Lin, Xiangying Lou, Weijing Li
OBJECTIVE: To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism. METHODS: A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping. RESULTS: Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28537924/genetic-defects-of-the-irf1-mediated-major-histocompatibility-complex-class-i-antigen-presentation-pathway-occur-prevalently-in-the-jak2-gene-in-non-small-cell-lung-cancer
#6
Tao Shen, Zhengming Chen, Zhizhuang Joe Zhao, Jie Wu
Recognition of major histocompatibility complex (MHC) class I antigens on tumor cells by cytotoxic T cells is involved in T cell-mediated tumor immune surveillance and immune checkpoint therapy. The interferon-γ (IFNγ)-IRF1 signaling pathway regulates MHC class I antigen presentation. To examine genetic defects of the IFNγ-IRF1 pathway in non-small cell lung cancer (NSCLC), we analyzed The Cancer Genome Atlas (TCGA) lung adenocarcinoma (LuAd) and lung squamous cell carcinoma (LuSc) data. Loss-of-function (LOF) genetic alterations of the IFNγ-IRF1 pathway genes (IFNGR1, IFNGR2, JAK1, JAK2, STAT1, IRF1) were found in 64 (6...
May 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521483/use-of-laser-capture-microdissection-allows-detection-of-loss-of-heterozygosity-in-chromosome-9p-in-breast-cancer
#7
Margarida Figueiredo Dias, Robert Blumenstein, Jose Russo
The present study was designed to determine whether loss of heterozygosity (LOH) in the p arm of chromosome 9 in invasive ductal carcinoma of the breast is detected during the neoplastic progression of the disease. Using laser capture microdissection (LCM) epithelial cells were isolated from 14 invasive ductal carcinoma cases (IDC), ductal carcinomas in situ (DCIS), normal mammary lobules, skin and/or lymph nodes of paraffin embedded tissue sections. LOH analysis of chromosome 9p was performed utilizing the microsatellite markers D9S199, D9S157, D9S171, D9S265 and D9S270...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28459703/novel-cytogenetic-findings-in-a-case-of-mixed-phenotype-acute-leukemia-within-the-context-of-a-complex-karyotype
#8
David Shabsovich, Gary Schiller, Yalda Naeini, Robert Collins, Carlos A Tirado
BACKGROUND: Mixed phenotype acute leukemia (MPAL) is a rare hematological malignancy characterized by combinatorial aberrations involving cells of the myeloid, T-, and/or B- lineages, most often diagnosed by means of immunophenotyping in order to assess lineage-specific markers, which can still yield inconclusive diagnoses. MPAL with a complex karyotype (three or more chromosomal abnormalities) is a cytogenetic subtype of MPAL associated with a poor prognosis, but limited data is available about the cytogenetic abnormalities present in this context...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28443149/inverted-urothelial-papilloma-a-review-of-diagnostic-pitfalls-and-clinical-management
#9
REVIEW
Mary K Sweeney, Soroush Rais-Bahrami, Jennifer Gordetsky
Inverted urothelial papilloma (IUP) is a rare, non-invasive endophytic lesion that accounts for 1-2% of urothelial tumours. On cystoscopy, IUP appears as a pedunculated/papillary mass with a smooth surface. On microscopy, IUP has an endophytic growth pattern with the bulk of the tumour covered by a superficial layer of urothelium, which can be hyperplastic or attenuated. The cytology should be bland, with uniform, spindled cells arranged in anastomosing trabeculae and cords with peripheral palisading of basaloid cells...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28411192/socioeconomic-status-interacts-with-the-genetic-effect-of-a-chromosome-9p21-3-common-variant-to-influence-coronary-artery-calcification-and-incident-coronary-events-in-the-heinz-nixdorf-recall-study-risk-factors-evaluation-of-coronary-calcium-and-lifestyle
#10
Börge Schmidt, Stefanie Frölich, Nico Dragano, Mirjam Frank, Lewin Eisele, Sonali Pechlivanis, Andreas J Forstner, Markus M Nöthen, Amir A Mahabadi, Raimund Erbel, Susanne Moebus, Karl-Heinz Jöckel
BACKGROUND: Genetic variants of a locus within the chromosome 9p21.3 region are consistently associated with coronary artery disease and coronary artery calcification (CAC). The aim of this study was to examine whether a 9p21.3 common variant interacts with socioeconomic status (SES) to influence CAC and incident coronary events in a population-based cohort. METHODS AND RESULTS: 9p21.3 single nucleotide polymorphism rs2891168 was genotyped in 4116 participants of the Heinz Nixdorf Recall study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28362709/a-diagnostic-algorithm-combining-immunohistochemistry-and-molecular-cytogenetics-to-diagnose-challenging-melanocytic-tumors
#11
Sylvia Redon, Briac Guibourg, Matthieu Talagas, Pascale Marcorelles, Arnaud Uguen
Some melanocytic tumors are diagnostic challenges and require ancillary tools in helping the pathologists to determine their potential of malignancy. We intend to propose a diagnostic algorithm in helping to classify challenging melanocytic tumors combining histology, immunohistochemistry, and cytogenetics. We report on 24 spitzoid and/or misdiagnosed melanocytic tumors studied with a triple p16, Ki-67, and HMB45 immunohistochemistry score, fluorescent in situ hybridization (FISH) with melanoma-dedicated and non-melanoma-dedicated probes and comparative genomic hybridization on DNA microarray (CGH array)...
March 30, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28287809/increased-risk-of-chd-in-the-presence-of-rs7865618-a-allele-tehran-lipid-and-glucose-study
#12
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
#13
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...
April 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28276595/a-genetic-variant-in-cdkn2a-b-gene-is-associated-with-the-increased-risk-of-breast-cancer
#14
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
#15
MULTICENTER STUDY
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...
May 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
#16
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
#17
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
#18
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
#19
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...
May 4, 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
#20
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
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