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https://www.readbyqxmd.com/read/29759113/distinct-roles-of-atm-and-atr-in-the-regulation-of-arp8-phosphorylation-to-prevent-chromosome-translocations
#1
Jiying Sun, Lin Shi, Aiko Kinomura, Atsuhiko Fukuto, Yasunori Horikoshi, Yukako Oma, Masahiko Harata, Masae Ikura, Tsuyoshi Ikura, Roland Kanaar, Satoshi Tashiro
Chromosomal translocations are hallmarks of various types of cancers and leukemias. However, the molecular mechanisms of chromosome translocations remain largely unknown. The ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, facilitates DNA repair to prevent chromosome abnormalities. Previously, we showed that ATM deficiency led to the 11q23 chromosome translocation, the most frequent chromosome abnormalities in secondary leukemia. Here, we show that ARP8, a subunit of the INO80 chromatin remodeling complex, is phosphorylated after etoposide treatment...
May 8, 2018: ELife
https://www.readbyqxmd.com/read/29735551/novel-richter-s-syndrome-xenograft-models-to-study-genetic-architecture-biology-and-therapy-responses
#2
Tiziana Vaisitti, Esteban Braggio, John N Allan, Francesca Arruga, Sara Serra, Alberto Zamò, Wayne Tam, Amy Chadburn, Richard R Furman, Silvia Deaglio
Richter's syndrome (RS) represents the evolution of chronic lymphocytic leukemia into an aggressive tumor, most commonly diffuse large B cell lymphoma. The lack of in vitro and in vivo models has severely hampered drug testing in a disease that is poorly responsive to common chemo-immunotherapeutic combinations as well as to novel kinase inhibitors. Here we report for the first time the establishment and genomic characterization of two patient-derived tumor xenograft models of RS, RS9737 and RS1316. RS xenografts were genetically, morphologically and phenotypically stable and similar to the corresponding primary tumor...
May 7, 2018: Cancer Research
https://www.readbyqxmd.com/read/29724899/the-dot1l-inhibitor-pinometostat-reduces-h3k79-methylation-and-has-modest-clinical-activity-in-adult-acute-leukemia
#3
Eytan M Stein, Guillermo Garcia-Manero, David A Rizzieri, Raoul Tibes, Jesus G Berdeja, Michael R Savona, Mojca Jongen-Lavrenic, Jessica K Altman, Blythe Thomson, Stephen J Blakemore, Scott R Daigle, Nigel J Waters, A Benjamin Suttle, Alicia Clawson, Roy Pollock, Andrei Krivtsov, Scott A Armstrong, Jorge DiMartino, Eric Hedrick, Bob Löwenberg, Martin S Tallman
Pinometostat (EPZ-5676) is a first-in-class, small-molecule inhibitor of the histone methyltransferase DOT1L. In this phase 1 study, pinometostat was evaluated for safety and efficacy in adult patients with advanced acute leukemias, particularly those involving MLL rearrangements ( MLL-r ) resulting from 11q23 translocations. Fifty-one patients were enrolled into 6 dose escalation cohorts (n=26) and 2 expansion cohorts (n=25) at pinometostat doses of 54 and 90 mg/m2 /day by continuous intravenous infusion in 28-day cycles...
May 3, 2018: Blood
https://www.readbyqxmd.com/read/29681642/sdhd-gene-mutation-in-mexican-population-whit-carotid-body-tumor
#4
María Elizabeth Enríquez-Vega, Jimena Gabriela Muñoz-Paredes, Alfonso Cossío-Zazueta, Yam Ontiveros-Carlos, Ernesto Pacheco-Pittaluga, Héctor Bizueto-Rosas
Introduction: Among the U.S. population, the p81L SDHD (11q23) gene mutation is present in 6-36% of patients with sporadic carotid body tumor (CBT), but in familial cases is high as 80%. That is why the P81L mutation is used as a screening method for carotid body tumor in the U.S. Methods: We included 25 patients who underwent resection of a CBT from January 2010 to June 2015. After informed consent, a blood sample was taken for genetic testing on real-time polymerase chain reaction, in order to identify p81L mutation in the SDHD gene...
2018: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/29544503/fatal-thoracic-aortic-aneurysm-and-dissection-in-a-large-family-with-a-novel-mylk-gene-mutation-delineation-of-the-clinical-phenotype
#5
Adel Shalata, Mohammad Mahroom, Dianna M Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir
BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected families, the aortic aneurysms and dissection is inherited in an autosomal dominant manner with decreased penetrance and variable expressivity. Mutations at two chromosomal loci, TAA1 at 11q23 and the TAA2 at 5q13-14, and eight genes, MYLK, MYH11, TGFBR2, TGFBR1, ACTA2, SMAD3, TGFB2, and MAT2A, have been identified as being responsible for the disease in 23% of affected families...
March 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29472717/revised-cytogenetic-risk-stratification-in-primary-myelofibrosis-analysis-based-on-1002-informative-patients
#6
Ayalew Tefferi, Maura Nicolosi, Mythri Mudireddy, Terra L Lasho, Naseema Gangat, Kebede H Begna, Curtis A Hanson, Rhett P Ketterling, Animesh Pardanani
Current cytogenetic risk stratification in primary myelofibrosis (PMF) is two-tiered: 'favorable' and 'unfavorable'. Recent studies have suggested prognostic heterogeneity within the unfavorable risk category. In 1002 consecutive patients, we performed stepwise analysis of impact on survival from individual and prognostically ordered cytogenetic abnormalities, leading to a revised three-tiered risk model: 'very high risk (VHR)'-single/multiple abnormalities of -7, i(17q), inv(3)/3q21, 12p-/12p11.2, 11q-/11q23, or other autosomal trisomies not including + 8/ + 9 (e...
May 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29460007/diffuse-gliomas-classified-by-1p-19q-co-deletion-tert-promoter-and-idh-mutation-status-are-associated-with-specific-genetic-risk-loci
#7
Karim Labreche, Ben Kinnersley, Giulia Berzero, Anna Luisa Di Stefano, Amithys Rahimian, Ines Detrait, Yannick Marie, Benjamin Grenier-Boley, Khe Hoang-Xuan, Jean-Yves Delattre, Ahmed Idbaih, Richard S Houlston, Marc Sanson
Recent genome-wide association studies of glioma have led to the discovery of single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence to investigate the relationship between risk SNPs and glioma subtype we analysed 1659 tumours profiled for IDH mutation, TERT promoter mutation and 1p/19q co-deletion. These data allowed definition of five molecular subgroups of glioma: triple-positive (IDH mutated, 1p/19q co-deletion, TERT promoter mutated); TERT-IDH (IDH mutated, TERT promoter mutated, 1p/19q-wild-type); IDH-only (IDH mutated, 1p/19q wild-type, TERT promoter wild-type); triple-negative (IDH wild-type, 1p/19q wild-type, TERT promoter wild-type) and TERT-only (TERT promoter mutated, IDH wild-type, 1p/19q wild-type)...
May 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29459712/the-e3-ubiquitin-ligase-triad1-influences-development-of-mll-ell-induced-acute-myeloid-leukemia
#8
Hao Wang, Ling Bei, Chirag A Shah, Weiqi Huang, Leonidas C Platanias, Elizabeth A Eklund
Chromosomal translocations involving the MLL1 gene characterize a poor prognosis subset of acute myeloid leukemia (AML), referred to as 11q23-AML. Transcription of the HOXA9 and HOXA10 genes is enhanced in hematopoietic stem and progenitor cells in these leukemias. We previously found the ARIH2 gene was repressed by HoxA9 in myeloid progenitors, but activated by HoxA10 during granulopoiesis. ARIH2 encodes the Triad1 protein, an anti-proliferative E3 ubiquitin ligase. In the current study, we investigate the role of Triad1 in leukemogenesis induced by an MLL1 fusion protein (Mll-Ell)...
February 20, 2018: Oncogene
https://www.readbyqxmd.com/read/29453859/diminished-cxcr5-expression-in-peripheral-blood-of-patients-with-sj%C3%A3-gren-s-syndrome-may-relate-to-both-genotype-and-salivary-gland-homing
#9
L A Aqrawi, M Ivanchenko, A Björk, J I Ramírez Sepúlveda, J Imgenberg-Kreuz, M Kvarnström, P Haselmayer, J L Jensen, G Nordmark, K Chemin, K Skarstein, M Wahren-Herlenius
Genetic investigations of Sjögren's syndrome (SS) have identified a susceptibility locus at p23.3 of chromosome 11, which contains the CXCR5 gene. C-X-C motif chemokine receptor 5 (CXCR5) is a chemokine receptor expressed on B and T cell subsets, and binds the chemotactic ligand C-X-C motif chemokine ligand 13 (CXCL13). In this study we aimed to link the genetic association with functional effects and explore the CXCR5/CXCL13 axis in SS. Expression quantitative trait loci analysis of the 11q23.3 locus was performed using B cell mRNA expression data from genotyped individuals...
February 17, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29398803/therapy-related-aml-mds-following-treatment-for-childhood-cancer-experience-from-a-tertiary-care-centre-in-north-india
#10
Chintan Vyas, Sandeep Jain, Gauri Kapoor
Therapy-related acute myeloid leukemia/myelodysplastic syndrome (t-AML/MDS) is a devastating late effect of cancer treatment. There is limited data on incidence of t-AML/MDS from India. We retrospectively studied pediatric t AML/MDS at our institute between January 1996 and December 2015. Among 1285 children, 8 patients developed t-AML with a median age of 15.5 years. Overall incidence of t-AML/MDS was 0.62% [0.99% (4/402) in solid tumours and 0.45% (4/883) in leukemia/lymphoma, P  = 0.26] with 6390 patient years of follow up...
January 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29392564/craniosynostosis-as-a-clinical-and-diagnostic-problem-molecular-pathology-and-genetic-counseling
#11
REVIEW
Anna Kutkowska-Kaźmierczak, Monika Gos, Ewa Obersztyn
Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29379568/characterization-of-a-de-novo-constitutional-balanced-translocation-t-2-11-q33-2-q23-2-with-break-point-on-the-human-nbeal1-geneho
#12
Javad Karimzadhagh, Soraya Salehgargari, Mirdavood Omrani
Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. Her parent attended private office at Tehran, Iran in 2013. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29340043/clinical-significance-of-yap1-activation-in-head-and-neck-squamous-cell-carcinoma
#13
Young-Gyu Eun, Dongjin Lee, Young Chan Lee, Bo Hwa Sohn, Eui Hyun Kim, Sun Young Yim, Kee Hwan Kwon, Ju-Seog Lee
By analyzing the genomic data of head and neck squamous cell cancer (HNSCC), we investigated clinical significance of YAP1 activation. Copy number and mRNA expression of YAP1 were analyzed together to assess clinical relevance of YAP1 activation in HNSCC. The clinical significance of YAP1 activation was further validated in four independent test cohorts. We also assessed the correlation of YAP1 activation with genomic alterations such as copy number alteration, somatic mutation, and miRNA expression. The YAP1-activated (YA) subgroup showed worse prognosis for HNSCC as tested and validated in five cohorts...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29305299/identification-of-oaf-and-pvrl1-as-candidate-genes-for-an-ocular-anomaly-characterized-by-peters-anomaly-type-2-and-ectopia-lentis
#14
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
March 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29290617/mettl14-inhibits-hematopoietic-stem-progenitor-differentiation-and-promotes-leukemogenesis-via-mrna-m-6-a-modification
#15
Hengyou Weng, Huilin Huang, Huizhe Wu, Xi Qin, Boxuan Simen Zhao, Lei Dong, Hailing Shi, Jennifer Skibbe, Chao Shen, Chao Hu, Yue Sheng, Yungui Wang, Mark Wunderlich, Bin Zhang, Louis C Dore, Rui Su, Xiaolan Deng, Kyle Ferchen, Chenying Li, Miao Sun, Zhike Lu, Xi Jiang, Guido Marcucci, James C Mulloy, Jianhua Yang, Zhijian Qian, Minjie Wei, Chuan He, Jianjun Chen
N6 -methyladenosine (m6 A), the most prevalent internal modification in eukaryotic messenger RNAs (mRNAs), plays critical roles in many bioprocesses. However, its functions in normal and malignant hematopoiesis remain elusive. Here, we report that METTL14, a key component of the m6 A methyltransferase complex, is highly expressed in normal hematopoietic stem/progenitor cells (HSPCs) and acute myeloid leukemia (AML) cells carrying t(11q23), t(15;17), or t(8;21) and is downregulated during myeloid differentiation...
February 1, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29235481/targeted-inhibition-of-stat-tet1-axis-as-a-therapeutic-strategy-for-acute-myeloid-leukemia
#16
Xi Jiang, Chao Hu, Kyle Ferchen, Ji Nie, Xiaolong Cui, Chih-Hong Chen, Liting Cheng, Zhixiang Zuo, William Seibel, Chunjiang He, Yixuan Tang, Jennifer R Skibbe, Mark Wunderlich, William C Reinhold, Lei Dong, Chao Shen, Stephen Arnovitz, Bryan Ulrich, Jiuwei Lu, Hengyou Weng, Rui Su, Huilin Huang, Yungui Wang, Chenying Li, Xi Qin, James C Mulloy, Yi Zheng, Jiajie Diao, Jie Jin, Chong Li, Paul P Liu, Chuan He, Yuan Chen, Jianjun Chen
Effective therapy of acute myeloid leukemia (AML) remains an unmet need. DNA methylcytosine dioxygenase Ten-eleven translocation 1 (TET1) is a critical oncoprotein in AML. Through a series of data analysis and drug screening, we identified two compounds (i.e., NSC-311068 and NSC-370284) that selectively suppress TET1 transcription and 5-hydroxymethylcytosine (5hmC) modification, and effectively inhibit cell viability in AML with high expression of TET1 (i.e., TET1-high AML), including AML carrying t(11q23)/MLL-rearrangements and t(8;21) AML...
December 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/29211693/the-t-12-21-p13-q22-in-pediatric-b-acute-lymphoblastic-leukemia-an-update
#17
Maximilian Becker, Kristie Liu, Carlos A Tirado
Erratum: Figure 1 on the last edition The Journal of the Association of Genetic Technologists. 2017;43(3): 113-127 does not contain the derivative 21. We are replacing this figure with the present one. In the section Secondary genetic aberrations we would like to add that: Deletions of 11q23 are observed in 5-6% of cases (Raynaud et al., 1999; Attarbaschi et al., 2004; Alvarez et al., 2005; Forestier et al., 2007).
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/29193083/integrating-expression-related-snps-into-genome-wide-gene-and-pathway-based-analyses-identified-novel-lung-cancer-susceptibility-genes
#18
Yuzhuo Wang, Weibing Wu, Meng Zhu, Cheng Wang, Wei Shen, Yang Cheng, Liguo Geng, Zhihua Li, Jiahui Zhang, Juncheng Dai, Hongxia Ma, Liang Chen, Zhibin Hu, Guangfu Jin, Hongbing Shen
Traditional pathway analysis map single nucleotide polymorphisms (SNPs) to genes according to physical position, which lacks sufficient biological bases. Here, we incorporated genetics of gene expression into gene- and pathway-based analysis to identify genes and pathways associated with lung cancer risk. We identified expression-related SNPs (eSNPs) in lung tissues and integrated these eSNPs into three lung cancer genome-wide association studies (GWASs), including 12,843 lung cancer cases and 12,639 controls...
April 15, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29147930/snp-association-study-in-pms2-associated-lynch-syndrome
#19
Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp, Theo A van Os, Liesbeth Spruijt, Bert J W Redeker, Manon Suerink, Yvonne J Vos, Anja Wagner, Juul T Wijnen, E W Steyerberg, Carli M J Tops, Tom van Wezel, Maartje Nielsen
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3...
November 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29147589/-%C3%AE-%C3%AE-t-cell-acute-lymphoblastic-leukemia-lymphoma-discussion-of-two-pediatric-cases-and-its-distinction-from-other-mature-%C3%AE-%C3%AE-t-cell-malignancies
#20
Eric X Wei, Vasiliki Leventaki, John K Choi, Susana C Raimondi, Elizabeth M Azzato, Sheila A Shurtleff, Menchu G Ong, Diana M Veillon, James D Cotelingam, Rodney E Shackelford
Gamma delta ( γδ ) T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in γδ T-ALL...
2017: Case Reports in Hematology
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