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https://www.readbyqxmd.com/read/29866946/comparative-molecular-analyses-of-esophageal-squamous-cell-carcinoma-esophageal-adenocarcinoma-and-gastric-adenocarcinoma
#1
Mohamed E Salem, Alberto Puccini, Joanne Xiu, Derek Raghavan, Heinz-Josef Lenz, W Michael Korn, Anthony F Shields, Philip A Philip, John L Marshall, Richard M Goldberg
BACKGROUND: Gastroesophageal cancers are often grouped together even though cancers that originate in the esophagus often exhibit different histological features, geographical distribution, risk factors, and clinical characteristics than those originating in the stomach. Herein, we aimed to compare the molecular characteristics of three different gastroesophageal cancer types: esophageal squamous cell carcinoma (ESCC), esophageal adenocarcinoma (EAC), and gastric adenocarcinoma (GAC)...
June 4, 2018: Oncologist
https://www.readbyqxmd.com/read/29842882/histone-methyltransferase-setd2-regulates-osteosarcoma-cell-growth-and-chemosensitivity-by-suppressing-wnt-%C3%AE-catenin-signaling
#2
Chaoying Jiang, Chao He, Zhiqiang Wu, Fengfeng Li, Jianru Xiao
SETD2 is a histone methyltransferase that catalyzes the trimethylation of lysine 36 on histone 3. SETD2 is frequently found to be mutated or deleted in a variety of human tumors, whereas the role of SETD2 in oncogenesis of osteosarcoma has never been defined. Here in our study, we uncovered that SETD2 regulates tumor growth and chemosensitivity of osteosarcoma. Overexpression of SETD2 significantly inhibited osteosarcoma cell growth in vitro and in vivo. Moreover, SETD2 significantly enhanced cisplatin-induced apoptosis in osteosarcoma cells and inhibited cancer stem cell properties in OS cells...
May 26, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29788743/novel-insights-into-transcriptional-dysregulation-in-colorectal-cancer
#3
Y Feodorova, D Tashkova, I Koev, A Todorov, G Kostov, K Simitchiev, V Belovejdov, R Dimov, V Sarafian
Colorectal cancer (CRC) is a leading cause of cancer-related mortality worldwide. Although CRC has been comprehensively characterized at the molecular level, the tumor heterogeneity hinders the identification of reliable diagnostic, prognostic and predictive biomarkers. Molecular stratification of CRC is based on prevalent gene mutations and transcription profiles but its significance for clinical practice remains obscure. Indeed, activating mutations in the genes KRAS, NRAS and BRAF are the only predictive biomarkers for anti-EGFR antibody therapy routinely tested the clinic for advanced stages of CRC...
March 14, 2018: Neoplasma
https://www.readbyqxmd.com/read/29777171/mll-fusion-driven-leukemia-requires-setd2-to-safeguard-genomic-integrity
#4
Anna Skucha, Jessica Ebner, Johannes Schmöllerl, Mareike Roth, Thomas Eder, Adrián César-Razquin, Alexey Stukalov, Sarah Vittori, Matthias Muhar, Bin Lu, Martin Aichinger, Julian Jude, André C Müller, Balázs Győrffy, Christopher R Vakoc, Peter Valent, Keiryn L Bennett, Johannes Zuber, Giulio Superti-Furga, Florian Grebien
MLL-fusions represent a large group of leukemia drivers, whose diversity originates from the vast molecular heterogeneity of C-terminal fusion partners of MLL. While studies of selected MLL-fusions have revealed critical molecular pathways, unifying mechanisms across all MLL-fusions remain poorly understood. We present the first comprehensive survey of protein-protein interactions of seven distantly related MLL-fusion proteins. Functional investigation of 128 conserved MLL-fusion-interactors identifies a specific role for the lysine methyltransferase SETD2 in MLL-leukemia...
May 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29754934/comprehensive-genomic-profiling-of-metastatic-tumors-in-a-phase-2-biomarker-study-of-everolimus-in-advanced-renal-cell-carcinoma
#5
Xin Gao, Opeyemi Jegede, Connor Gray, Paul J Catalano, Jesse Novak, David J Kwiatkowski, Rana R McKay, Daniel J George, Toni K Choueiri, David F McDermott, Sabina Signoretti, Rupal S Bhatt
INTRODUCTION: Genomic events leading to activation of mechanistic target of rapamycin (mTOR) are common in renal cell carcinoma (RCC). Everolimus is an allosteric mTOR inhibitor with efficacy in metastatic RCC. We characterized the genomic profile of RCC tumors from metastatic sites and assessed whether particular alterations correlate with clinical response to everolimus. PATIENTS AND METHODS: An open-label, single-arm phase 2 biomarker study of everolimus 10 mg daily was conducted in metastatic RCC patients...
April 25, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29728617/depletion-of-nsd2-mediated-histone-h3k36-methylation-impairs-adipose-tissue-development-and-function
#6
Lenan Zhuang, Younghoon Jang, Young-Kwon Park, Ji-Eun Lee, Shalini Jain, Eugene Froimchuk, Aaron Broun, Chengyu Liu, Oksana Gavrilova, Kai Ge
The epigenetic mechanisms regulating adipose tissue development and function are poorly understood. In this study, we show that depletion of histone H3K36 methylation by H3.3K36M in preadipocytes inhibits adipogenesis by increasing H3K27me3 to prevent the induction of C/EBPα and other targets of the master adipogenic transcription factor peroxisome proliferator-activated receptor-γ (PPARγ). Depleting H3K36 methyltransferase Nsd2, but not Nsd1 or Setd2, phenocopies the effects of H3.3K36M on adipogenesis and PPARγ target expression...
May 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29724721/setd2-is-recurrently-mutated-in-whole-exome-sequenced-canine-osteosarcoma
#7
Sharadha Sakthikumar, Ingegerd Elvers, Jaegil Kim, Maja L Arendt, Rachael Thomas, Jason Turner-Maier, Ross Swofford, Jeremy Johnson, Steven E Schumacher, Jessica Alföldi, Erik Axelsson, Guillermo Couto, William Kisseberth, Mats E Pettersson, Gad Getz, Jennifer R S Meadows, Jaime F Modiano, Matthew Breen, Marcin Kierczak, Karin Forsberg-Nilsson, Voichita D Marinescu, Kerstin Lindblad-Toh
Osteosarcoma (OSA) is a debilitating bone cancer that affects humans, especially children and adolescents. A homologous form of OSA spontaneously occurs in dogs, and its differential incidence observed across breeds allows for the investigation of tumor mutations in the context of multiple genetic backgrounds. Using whole-exome sequencing and dogs from three susceptible breeds (22 golden retrievers, 21 Rottweilers, and 23 greyhounds), we found that OSA tumors show a high frequency of somatic copy number alterations (SCNA) affecting key oncogenes and tumor suppressor genes...
May 3, 2018: Cancer Research
https://www.readbyqxmd.com/read/29724720/setd2-haploinsufficiency-for-microtubule-methylation-is-an-early-driver-of-genomic-instability-in-renal-cell-carcinoma
#8
Yun Chen Chiang, In Young Park, Esteban A Terzo, Durga Nand Tripathi, Frank M Mason, Catherine C Fahey, Menuka Karki, Charles B Shuster, Bo Hwa Sohn, Pratim Chowdhury, Reid T Powell, Ryoma Ohi, Yi-Hsuan Tsai, Aguirre A de Cubas, Abid Khan, Ian Davis, Brian D Strahl, Joel S Parker, Ruhee Dere, Cheryl Lyn Walker, W Kimryn Rathmell
Loss of the short arm of chromosome 3 (3p) occurs early in >95% of clear cell renal cell carcinoma (ccRCC). Nearly ubiquitous 3p loss in ccRCC suggests haploinsufficiency for 3p tumor suppressors as early drivers of tumorigenesis. We previously reported methyltransferase SETD2, which trimethylates H3 histones on lysine 36 (H3K36me3) and is located in the 3p deletion, to also trimethylate microtubules on lysine 40 (αTubK40me3) during mitosis, with αTubK40me3 required for genomic stability. We now show that mono-allelic, Setd2-deficient cells retaining H3K36me3 but not αTubK40me3 exhibit a dramatic increase in mitotic defects and micronuclei count with increased viability compared to bi-allelic loss...
May 3, 2018: Cancer Research
https://www.readbyqxmd.com/read/29716999/the-histone-methyltransferase-setd2-is-required-for-expression-of-acrosin-binding-protein-1and-protamines-and-essential-for-spermiogenesis-in-mice
#9
Xiaoli Zuo, Bowen Rong, Li Li, Ruitu Lv, Fei Lan, Ming-Han Tong
Spermatogenesis is precisely controlled by complex gene expression programs and involves epigenetic reprogramming including histone modification and DNA methylation. SET domain-containing 2 (Setd2) is the predominant histone methyltransferase catalyzing the trimethylation of histone H3 Lysine 36 (H3K36me3) and plays key roles in embryonic stem cell differentiation and somatic cell development. However, its role in male germ cell development remains elusive. Here we demonstrate an essential role of Setd2for spermiogenesis,the final stage of spermatogenesis...
May 1, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29708949/the-genomics-of-renal-cell-carcinoma-and-its-role-in-renal-mass-biopsy
#10
Simpa S Salami, Arvin K George, Aaron M Udager
PURPOSE OF REVIEW: Large-scale genomic profiling has shed new light on the molecular underpinnings of renal cell carcinoma (RCC), spurring a much needed refinement of RCC subclassification based on an integrative assessment of histopathologic features and molecular alterations. At the same time, renal mass biopsies have become increasingly commonplace, necessitating ancillary tools to help guide clinical management. Herein, we briefly review our current understanding of RCC genomics, highlighting areas of possible clinical utility, as well as potential limitations, for renal mass biopsies...
July 2018: Current Opinion in Urology
https://www.readbyqxmd.com/read/29681085/two-novel-cases-expanding-the-phenotype-of-setd2-related-overgrowth-syndrome
#11
Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, Sarina G Kant, Claudia Ruivenkamp, Arie van Haeringen, J Anneke Kievit, Martine J van Belzen
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5-year-old boy and a 23-year-old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2-related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29674707/targeted-genomic-landscape-of-metastases-compared-to-primary-tumours-in-clear-cell-metastatic-renal-cell-carcinoma
#12
Guillermo de Velasco, Stephanie A Wankowicz, Russell Madison, Siraj M Ali, Craig Norton, Audrey Duquette, Jeffrey S Ross, Dominick Bossé, Aly-Khan A Lalani, Vincent A Miller, Philip J Stephens, Lauren Young, A Ari Hakimi, Sabina Signoretti, Sumanta K Pal, Toni K Choueiri
BACKGROUND: The genomic landscape of primary clear cell renal cell carcinoma (ccRCC) has been well described. However, little is known about cohort genomic alterations (GA) landscape in ccRCC metastases, or how it compares to primary tumours in aggregate. The genomic landscape of metastases may have biological, clinical, and therapeutic implications. METHODS: We collected targeted next-generation sequencing mutation calls from two independent cohorts and described the metastases GA landscape and descriptively compared it to the GA landscape in primary tumours...
May 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29650642/setd2-regulates-quiescence-and-differentiation-of-adult-hematopoietic-stem-cells-by-restricting-rna-polymerase-ii-elongation
#13
Yile Zhou, Xiaomei Yan, Xiaomin Feng, Jiachen Bu, Yunzhu Dong, Peipei Lin, Yoshihiro Hayashi, Rui Huang, Andre Olsson, Paul R Andreassen, H Leighton Grimes, Qian-Fei Wang, Tao Cheng, Zhijian Xiao, Jie Jin, Gang Huang
SET domain containing 2 (Setd2), encoding a histone methyltransferase, is associated with many hematopoietic diseases when mutated. By generating a novel exon 6 conditional knockout mouse model, we described an essential role of Setd2 in maintaining the adult hematopoietic stem cells. Loss of Setd2 results in leukopenia, anemia, and increased platelet accompanied with hypocellularity, erythroid dysplasia, and mild fibrosis in bone marrow. Setd2 knockout mice show significantly decreased hematopoietic stem and progenitor cells except for erythroid progenitors...
April 12, 2018: Haematologica
https://www.readbyqxmd.com/read/29572486/setd2-linking-stem-cell-survival-and-transformation
#14
Mrinal M Patnaik, Omar Abdel-Wahab
No abstract text is available yet for this article.
April 2018: Cell Research
https://www.readbyqxmd.com/read/29558292/synergy-of-sex-differences-in-visceral-fat-measured-with-ct-and-tumor-metabolism-helps-predict-overall-survival-in-patients-with-renal-cell-carcinoma
#15
Gerard K Nguyen, Vincent M Mellnick, Aldrin Kay-Yuen Yim, Amber Salter, Joseph E Ippolito
Purpose To determine if sex differences in abdominal visceral fat composition, measured by using computed tomography (CT), and tumor glucose metabolism, measured by gene expression, can help predict outcomes in patients with clear cell renal cell carcinoma (RCC). Materials and Methods This retrospective cohort study included 222 patients with clear cell RCC from The Cancer Imaging Atlas. By using CT, body fat was segmented into subcutaneous fat and visceral fat areas (VFAs) and normalized to total fat to obtain the relative VFA (rVFA) and relative subcutaneous fat area...
June 2018: Radiology
https://www.readbyqxmd.com/read/29531312/setd2-deficiency-impairs-hematopoietic-stem-cell-self-renewal-and-causes-malignant-transformation
#16
Yuan-Liang Zhang, Jie-Wen Sun, Yin-Yin Xie, Yan Zhou, Ping Liu, Jia-Chun Song, Chun-Hui Xu, Lan Wang, Dan Liu, Ai-Ning Xu, Zhu Chen, Sai-Juan Chen, Xiao-Jian Sun, Qiu-Hua Huang
The histone H3 lysine 36 methyltransferase SETD2 is frequently mutated in various cancers, including leukemia. However, there has not been any functional model to show the contribution of SETD2 in hematopoiesis or the causal role of SETD2 mutation in tumorigenesis. In this study, using a conditional Setd2 knockout mouse model, we show that Setd2 deficiency skews hematopoietic differentiation and reduces the number of multipotent progenitors; although the number of phenotypic hematopoietic stem cells (HSCs) in Setd2-deleted mice is unchanged, functional assays, including serial BM transplantation, reveal that the self-renewal and competitiveness of HSCs are impaired...
April 2018: Cell Research
https://www.readbyqxmd.com/read/29522714/setd2-indicates-favourable-prognosis-in-gastric-cancer-and-suppresses-cancer-cell-proliferation-migration-and-invasion
#17
Ziyi Chen, Chetnadevi Raghoonundun, Weidong Chen, Yanan Zhang, Wenhao Tang, Xin Fan, Xin Shi
SET domain containing protein 2 (SETD2, also known as HYPB) is a 230-kD protein which is located at cytogenetic band p21.31 of chromosome 3. SETD2 is usually transformed or eradicated in multiple forms of tumours in humans. However, its primary function in gastric cancer (GC) remains unclear. In the current study, we investigated the mRNA and protein expression levels of SETD2 using immunohistochemistry, qPCR, RT-PCR, and immunoblotting. The function of SETD2 in GC cells was investigated by MTT and transwell assays...
April 6, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29504908/exome-analysis-of-carotid-body-tumor
#18
Anastasiya V Snezhkina, Elena N Lukyanova, Dmitry V Kalinin, Anatoly V Pokrovsky, Alexey A Dmitriev, Nadezhda V Koroban, Elena A Pudova, Maria S Fedorova, Nadezhda N Volchenko, Oleg A Stepanov, Ekaterina A Zhevelyuk, Sergey L Kharitonov, Anastasiya V Lipatova, Ivan S Abramov, Alexander V Golovyuk, Yegor E Yegorov, Khava S Vishnyakova, Alexey A Moskalev, George S Krasnov, Nataliya V Melnikova, Dmitry S Shcherbo, Marina V Kiseleva, Andrey D Kaprin, Boris Y Alekseev, Andrew R Zaretsky, Anna V Kudryavtseva
BACKGROUND: Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated. METHODS: Exome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA)...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29499398/epigenetic-alteration-of-mismatch-repair-genes-in-the-population-chronically-exposed-to-arsenic-in-west-bengal-india
#19
Pritha Bhattacharjee, Tamalika Sanyal, Sandip Bhattacharjee, Pritha Bhattacharjee
INTRODUCTION: Arsenic exposure and its adverse health outcome, including the association with cancer risk are well established from several studies across the globe. The present study aims to analyze the epigenetic regulation of key mismatch repair (MMR) genes in the arsenic-exposed population. METHOD: A case-control study was conducted involving two hundred twenty four (N=224) arsenic exposed [with skin lesion (WSL=110) and without skin lesion (WOSL=114)] and one hundred and two (N=102) unexposed individuals...
May 2018: Environmental Research
https://www.readbyqxmd.com/read/29486199/loss-of-chromatin-remodeling-proteins-and-or-cdkn2a-associates-with-metastasis-of-pancreatic-neuroendocrine-tumors-and-reduced-patient-survival-times
#20
Somak Roy, William A LaFramboise, Ta-Chiang Liu, Dengfeng Cao, Alyssa Luvison, Caitlyn Miller, Maureen A Lyons, Roderick J O'Sullivan, Amer H Zureikat, Melissa E Hogg, Allan Tsung, Kenneth K Lee, Nathan Bahary, Randall E Brand, Jennifer S Chennat, Kenneth E Fasanella, Kevin McGrath, Marina N Nikiforova, Georgios I Papachristou, Adam Slivka, Herbert J Zeh, Aatur D Singhi
Despite prognostic grading and staging systems, it is a challenge to predict outcomes for patients with pancreatic neuroendocrine tumors (PanNETs). Sequencing studies of PanNETs have identified alterations in death domain-associated protein (DAXX) and alpha-thalassemia/mental retardation X-linked chromatin remodeler (ATRX). In tumors, mutations in DAXX or ATRX and corresponding loss of protein expression correlate with shorter times of disease-free survival and disease-specific survival of patients. However, DAXX or ATRX proteins were lost in only 50% of distant metastases analyzed...
March 2, 2018: Gastroenterology
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