keyword
MENU ▼
Read by QxMD icon Read
search

Cdkn2a

keyword
https://www.readbyqxmd.com/read/28079868/cdc123-camk1d-gene-rs12779790-polymorphism-and-rs10811661-polymorphism-upstream-of-the-cdkn2a-2b-gene-in-women-with-gestational-diabetes
#1
M Tarnowski, D Malinowski, K Safranow, V Dziedziejko, A Pawlik
OBJECTIVE: Gestational diabetes mellitus (GDM) is carbohydrate intolerance occurring in pregnant women. CDC123/CAMK1D and CDKN2A/2B are associated with increased risk of type 2 diabetes and may affect pancreatic beta cell function. The aim of this study was to examine the association between CDKN2A/2B rs10811661 and CDC123/CAMK1D rs12779790 gene polymorphisms and GDM. STUDY DESIGN: This study included 411 pregnant women. The diagnosis of GDM was based on the International Association of Diabetes and Pregnancy Study Groups criteria...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078134/malignant-transformation-of-biliary-adenofibroma-a-rare-biliary-cystic-tumor
#2
Scott M Thompson, Benjamin Zendejas-Mummert, Mindy L Hartgers, Sudhakar K Venkatesh, Thomas C Smyrk, Amit Mahipal, Rory L Smoot
Biliary adenofibromas (BAFs) are rare, benign biliary cystic tumors with potential for malignant transformation. Of the eleven prior cases of BAF reported in the literature, six showed evidence of malignant transformation. We describe the clinical, imaging and pathology features of two cases of malignant BAF and review the existing literature to raise awareness of this entity and provide additional tools for diagnosing this rare tumor Additionally, we identified a loss of function mutation in the cyclin-dependent kinase inhibitor 2A (CDKN2A) tumor suppressor gene in a malignant caudate lobe BAF, thereby providing potential insight into the molecular pathogenesis of BAF malignant transformation...
December 2016: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28076340/telomere-length-assessment-for-prediction-of-organ-transplantation-outcome-future-or-failure-a-review-of-the-literature
#3
Karolina Kłoda, Leszek Domański, Artur Mierzecki
Telomeres are located at each end of eukaryotic chromosomes. Their functional role is genomic stability maintenance. The protective role of telomeres depends on various factors, including number of nucleotides repeats, telomere-binding proteins, and telomerase activity. Organ transplantation is the preferred replacement therapy in the case of chronic kidney disease and the only possibility of sustaining recipients' life in the case of advanced liver failure. While the prevalence of acute rejection is constantly decreasing, prevention of transplanted organ long-term function loss is still challenging...
January 11, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28074012/reduced-abundance-of-the-e3-ubiquitin-ligase-e6ap-contributes-to-decreased-expression-of-the-ink4-arf-locus-in-non-small-cell-lung-cancer
#4
Cristina Gamell, Twishi Gulati, Yaara Levav-Cohen, Richard J Young, Hongdo Do, Pat Pilling, Elena Takano, Neil Watkins, Stephen B Fox, Prudence Russell, Doron Ginsberg, Brendon J Monahan, Gavin Wright, Alex Dobrovic, Sue Haupt, Ben Solomon, Ygal Haupt
The tumor suppressor p16(INK4a), one protein encoded by the INK4/ARF locus, is frequently absent in multiple cancers, including non-small cell lung cancer (NSCLC). Whereas increased methylation of the encoding gene (CDKN2A) accounts for its loss in a third of patients, no molecular explanation exists for the remainder. We unraveled an alternative mechanism for the silencing of the INK4/ARF locus involving the E3 ubiquitin ligase and transcriptional cofactor E6AP (also known as UBE3A). We found that the expression of three tumor suppressor genes encoded in the INK4/ARF locus (p15(INK4b), p16(INK4a), and p19(ARF)) was decreased in E6AP(-/-) mouse embryo fibroblasts...
January 10, 2017: Science Signaling
https://www.readbyqxmd.com/read/28069272/smarcb1-ini1-deficient-sinonasal-carcinoma-shows-methylation-of-rassf1-gene-a-clinicopathological-immunohistochemical-and-molecular-genetic-study-of-a-recently-described-entity
#5
Jan Laco, Marcela Chmelařová, Hana Vošmiková, Kateřina Sieglová, Ivana Bubancová, Pavel Dundr, Kristýna Němejcová, Jaroslav Michálek, Petr Čelakovský, Radovan Mottl, Igor Sirák, Milan Vošmik, Aleš Ryška
The aim of the study was detailed clinicopathological investigation of SMARCB1/INI1-deficient sinonasal carcinomas, including molecular genetic analysis of mutational status and DNA methylation of selected protooncogenes and tumor suppressor genes by means of next generation sequencing (NGS) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). A total of 4/56 (7%) cases of SMARCB1/INI1-deficient carcinomas were detected among 56 sinonasal carcinomas diagnosed over a 19year period using immunohistochemical screening...
October 25, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28068628/epoxy-clerodane-diterpene-inhibits-mcf-7-human-breast-cancer-cell-growth-by-regulating-the-expression-of-the-functional-apoptotic-genes-cdkn2a-rb1-mdm2-and-p53
#6
P Subash-Babu, Ghedeir M Alshammari, S Ignacimuthu, Ali A Alshatwi
Systematic analyses of plants that are used in traditional medicine may lead to the discovery of novel cytotoxic secondary metabolites. Diterpene possesses multiple bioactivities; here, epoxy clerodane diterpene (ECD) was isolated from Tinospora cordifolia (Willd.) stem and shown potential antiproliferative effect in MCF-7 human breast cancer cells. The antiproliferative effect of ECD on MCF-7 cells was systematically analyzed by cell and nuclear morphology, alterations in oxidative stress, and the expression of tumor suppressor and mitochondria-mediated apoptosis-related genes...
January 6, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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/28062544/somatic-mutation-profiling-of-hobnail-variant-of-papillary-thyroid-carcinoma
#8
Luca Morandi, Alberto Righi, Francesca Maletta, Paola Rucci, Fabio Pagni, Marco Gallo, Sabrina Rossi, Leonardo Caporali, Anna Sapino, Ricardo Lloyd, Sofia Asioli
Hobnail variant of papillary thyroid carcinoma (HPTC) represents a recently described, aggressive and rare group of thyroid tumors with poorly understood pathogenesis. Molecular data about this group of cancers are few and a more detailed molecular characterization of these tumors is needed. The main objective of the study is to define a comprehensive molecular typing of HPTC. Eighteen patients affected by HPTC, including eighteen primary tumors and four lymph node metastases, were screened for NRAS, KRAS, HRAS, BRAF, TP53, PIK3CA, hTERT, PTEN, CDKN2A, EGFR, AKT1, CTNNB1, and NOTCH1 gene mutations...
January 6, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28060055/genetic-counselling-and-high-penetrance-susceptibility-gene-analysis-reveal-the-novel-cdkn2a-p-d84v-c-251a-t-mutation-in-melanoma-prone-families-from-italy
#9
Riccardo G Borroni, Ausilia M Manganoni, Sara Grassi, Maurizia Grasso, Marta Diegoli, Carmela Giorgianni, Valentina Favalli, Laura Pavoni, Maddalena Cespa, Eloisa Arbustini
Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM...
January 4, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28057171/predicting-high-impact-pharmacological-targets-by-integrating-transcriptome-and-text-mining-features
#10
Anatoly Mayburd, Ancha Baranova
PURPOSE: Novel, "outside of the box" approaches are needed for evaluating candidate molecules, especially in oncology. Throughout the years of 2000-2010, the efficiency of drug development fell to barely acceptable levels, and in the second decade of this century, levels have improved only marginally. This dismal condition continues despite unprecedented progress in the development of a variety of high-throughput tools, computational methods, aggregated databases, drug repurposing programs and innovative chemistries...
October 2016: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28056055/hdac-and-proteasome-inhibitors-synergize-to-activate-pro-apoptotic-factors-in-synovial-sarcoma
#11
Aimée N Laporte, Jared J Barrott, Ren Jie Yao, Neal M Poulin, Bertha A Brodin, Kevin B Jones, T Michael Underhill, Torsten O Nielsen
Conventional cytotoxic therapies for synovial sarcoma provide limited benefit, and no drugs specifically targeting its driving SS18-SSX fusion oncoprotein are currently available. Patients remain at high risk for early and late metastasis. A high-throughput drug screen consisting of over 900 tool compounds and epigenetic modifiers, representing over 100 drug classes, was undertaken in a panel of synovial sarcoma cell lines to uncover novel sensitizing agents and targetable pathways. Top scoring drug categories were found to be HDAC inhibitors and proteasomal targeting agents...
2017: PloS One
https://www.readbyqxmd.com/read/28049658/stage-and-subunit-specific-functions-of-polycomb-repressive-complex-2-in-bladder-urothelial-formation-and-regeneration
#12
Chunming Guo, Zarine R Balsara, Warren G Hill, Xue Li
Urothelium is the protective lining of the urinary tract. The mechanisms underlying urothelial formation and maintenance are largely unknown. Here, we report the stage-specific roles of PRC2 epigenetic regulators in embryonic and adult urothelial progenitors. Without Eed, the obligatory subunit of PRC2, embryonic urothelial progenitors demonstrate reduced proliferation with concomitant dysregulation of genes including Cdkn2a(p16), Cdkn2b(p15) and Shh. These mutants display premature differentiation of Keratin 5-positive (Krt5(+)) basal cells and ectopic expression of squamous-like differentiation markers...
January 3, 2017: Development
https://www.readbyqxmd.com/read/28045747/next-generation-sequencing-reveals-pathway-activations-and-new-routes-to-targeted-therapies-in-cutaneous-metastatic-melanoma
#13
J Andrew Carlson, Jose Candido Caldeira Xavier, Ashley Tarasen, Christine E Sheehan, Geoff Otto, Vincent A Miller, Philip J Stephens, Julia A Elvin, Jo-Anne Vergilio, James Suh, Laurie M Gay, Jeffrey S Ross
BACKGROUND: Comprehensive genomic profiling of clinical samples by next-generation sequencing (NGS) can identify one or more therapy targets for the treatment of metastatic melanoma (MM) with a single diagnostic test. METHODS: NGS was performed on hybridization-captured, adaptor ligation-based libraries using DNA extracted from 4 formalin-fixed paraffin-embedded sections cut at 10 microns from 30 MM cases. The exons of 182 cancer-related genes were fully sequenced using the Illumina HiSeq 2000 at an average sequencing depth of 1098X and evaluated for genomic alterations (GAs) including point mutations, insertions, deletions, copy number alterations, and select gene fusions/rearrangements...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28041896/a-quiescent-bcl11b-high-stem-cell-population-is-required-for-maintenance-of-the-mammary-gland
#14
Shang Cai, Tomer Kalisky, Debashis Sahoo, Piero Dalerba, Weiguo Feng, Yuan Lin, Dalong Qian, Angela Kong, Jeffrey Yu, Flora Wang, Elizabeth Y Chen, Ferenc A Scheeren, Angera H Kuo, Shaheen S Sikandar, Shigeo Hisamori, Linda J van Weele, Diane Heiser, Sopheak Sim, Jessica Lam, Stephen Quake, Michael F Clarke
Stem cells in many tissues sustain themselves by entering a quiescent state to avoid genomic insults and to prevent exhaustion caused by excessive proliferation. In the mammary gland, the identity and characteristics of quiescent epithelial stem cells are not clear. Here, we identify a quiescent mammary epithelial cell population expressing high levels of Bcl11b and located at the interface between luminal and basal cells. Bcl11b(high) cells are enriched for cells that can regenerate mammary glands in secondary transplants...
December 19, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/28039610/cdkn2a-p53-mediated-antitumor-effect-of-lupeol-in-head-and-neck-cancer
#15
Sayantan Bhattacharyya, Vasanthakumar Sekar, Biswanath Majumder, Debapriya G Mehrotra, Samir Banerjee, Anup K Bhowmick, Neyaz Alam, Gautam K Mandal, Jaydip Biswas, Pradip K Majumder, Nabendu Murmu
PURPOSE: The tumor suppressor protein p53 is known to control cell cycle arrest and apoptosis. Lupeol is a phytochemical that has been found to induce apoptosis in different cancer types through the extrinsic pathway. As yet, however, its role in the induction of cell cycle arrest and apoptosis through the intrinsic pathway in head and neck cancer has not been investigated. Here, we aimed at understanding the mechanism underlying the antitumor effect of Lupeol in head and neck cancer...
December 30, 2016: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/28038708/usefulness-of-p16-cdkn2a-fluorescence-in-situ-hybridization-and-bap1-immunohistochemistry-for-the-diagnosis-of-biphasic-mesothelioma
#16
Di Wu, Kenzo Hiroshima, Toshikazu Yusa, Daisuke Ozaki, Eitetsu Koh, Yasuo Sekine, Shinji Matsumoto, Kazuki Nabeshima, Ayuko Sato, Tohru Tsujimura, Hisami Yamakawa, Yuji Tada, Hideaki Shimada, Masatoshi Tagawa
Malignant mesothelioma is a highly aggressive neoplasm, and the histologic subtype is one of the most reliable prognostic factors. Some biphasic mesotheliomas are difficult to distinguish from epithelioid mesotheliomas with atypical fibrous stroma. The aim of this study was to analyze p16/CDKN2A deletions in mesotheliomas by fluorescence in situ hybridization (FISH) and BAP1 immunohistochemistry to evaluate their potential role in the diagnosis of biphasic mesothelioma. We collected 38 cases of pleural mesotheliomas...
February 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28028119/inactivating-mutations-of-rb1-and-tp53-correlate-with-sarcomatous-histomorphology-and-metastasis-recurrence-in-gastrointestinal-stromal-tumors
#17
Larissa Merten, Abbas Agaimy, Evgeny A Moskalev, Johannes Giedl, Claudia Kayser, Helene Geddert, Inga-Marie Schaefer, Silke Cameron, Martin Werner, Philip Ströbel, Arndt Hartmann, Florian Haller
OBJECTIVES: Loss-of-function mutations in TP53 and CDKN2A have been found at varying frequencies in gastrointestinal stromal tumors (GISTs), while no mutations of RB1 have been reported to date. The aim of the current study was to determine the mutation frequency of TP53, RB1, and CDKN2A in GISTs. METHODS: A cohort of 83 primary untreated GISTs was analyzed for mutations in TP53, RB1, and CDKN2A by massive parallel sequencing. Tumors with mutations in TP53 and RB1 were analyzed by fluorescence in situ hybridization for the corresponding gene loci...
December 27, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28027327/mutational-profile-of-metastatic-breast-cancers-a-retrospective-analysis
#18
Celine Lefebvre, Thomas Bachelot, Thomas Filleron, Marion Pedrero, Mario Campone, Jean-Charles Soria, Christophe Massard, Christelle Lévy, Monica Arnedos, Magali Lacroix-Triki, Julie Garrabey, Yannick Boursin, Marc Deloger, Yu Fu, Frédéric Commo, Véronique Scott, Ludovic Lacroix, Maria Vittoria Dieci, Maud Kamal, Véronique Diéras, Anthony Gonçalves, Jean-Marc Ferrerro, Gilles Romieu, Laurence Vanlemmens, Marie-Ange Mouret Reynier, Jean-Christophe Théry, Fanny Le Du, Séverine Guiu, Florence Dalenc, Gilles Clapisson, Hervé Bonnefoi, Marta Jimenez, Christophe Le Tourneau, Fabrice André
BACKGROUND: Major advances have been achieved in the characterization of early breast cancer (eBC) genomic profiles. Metastatic breast cancer (mBC) is associated with poor outcomes, yet limited information is available on the genomic profile of this disease. This study aims to decipher mutational profiles of mBC using next-generation sequencing. METHODS AND FINDINGS: Whole-exome sequencing was performed on 216 tumor-blood pairs from mBC patients who underwent a biopsy in the context of the SAFIR01, SAFIR02, SHIVA, or Molecular Screening for Cancer Treatment Optimization (MOSCATO) prospective trials...
December 2016: PLoS Medicine
https://www.readbyqxmd.com/read/28008994/common-germline-variants-within-the-cdkn2a-2b-region-affect-risk-of-pancreatic-neuroendocrine-tumors
#19
Daniele Campa, Gabriele Capurso, Manuela Pastore, Renata Talar-Wojnarowska, Anna Caterina Milanetto, Luca Landoni, Evaristo Maiello, Rita T Lawlor, Ewa Malecka-Panas, Niccola Funel, Maria Gazouli, Antonio De Bonis, Harald Klüter, Maria Rinzivillo, Gianfranco Delle Fave, Thilo Hackert, Stefano Landi, Peter Bugert, Franco Bambi, Livia Archibugi, Aldo Scarpa, Verena Katzke, Christos Dervenis, Valbona Liço, Sara Furlanello, Oliver Strobel, Francesca Tavano, Daniela Basso, Rudolf Kaaks, Claudio Pasquali, Manuel Gentiluomo, Cosmeri Rizzato, Federico Canzian
Pancreatic neuroendocrine tumors (PNETs) are heterogeneous neoplasms which represent only 2% of all pancreatic neoplasms by incidence, but 10% by prevalence. Genetic risk factors could have an important role in the disease aetiology, however only a small number of case control studies have been performed yet. To further our knowledge, we genotyped 13 SNPs belonging to the pleiotropic CDKN2A/B gene region in 320 PNET cases and 4436 controls, the largest study on the disease so far. We observed a statistically significant association between the homozygotes for the minor allele of the rs2518719 SNP and an increased risk of developing PNET (ORhom = 2...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28007776/immune-cytolytic-activity-stratifies-molecular-subsets-of-human-pancreatic-cancer
#20
David Balli, Andrew J Rech, Ben Z Stanger, Robert H Vonderheide
PURPOSE: Immunotherapy has the potential to improve the dismal prognosis in pancreatic ductal adenocarcinoma (PDA), but clinical trials - including those with single-agent PD-1/PD-L1 inhibition - have been disappointing. Our aim was to examine the immune landscape of PDA as it relates to aspects of tumor biology, including neoepitope burden. EXPERIMENTAL DESIGN: We used publically available expression data from 134 primary resection PDA samples from The Cancer Genome Atlas to stratify patients according to a cytolytic T-cell activity expression index...
December 22, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
keyword
keyword
36803
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"