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https://www.readbyqxmd.com/read/28099933/loss-of-maternal-chromosome-11-is-a-signature-event-in-sdhaf2-sdhd-and-vhl-related-paragangliomas-but-less-significant-in-sdhb-related-paragangliomas
#1
Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora Pm Corssmit, Frederik J Hes, Jeroen C Jansen, Henricus Pm Kunst, Henri Jlm Timmers, Adrian Bateman, Diana Eccles, Judith Vmg Bovée, Peter Devilee, Jean-Pierre Bayley
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28090486/therapy-related-myeloid-neoplasms-in-children-and-adolescents
#2
Hee Won Cho, Young Bae Choi, Eun Sang Yi, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Keon Hee Yoo
BACKGROUND: This retrospective study aimed to characterize and analyze the outcome of therapy-related myeloid neoplasms (t-MNs) in children and adolescents. METHODS: The medical records of 16 patients under 21 years of age at the time of t-MN diagnosis were reviewed. RESULTS: The median patient age was 11.5 years (range, 1.6-20.4 yr). Twelve patients had therapy-related acute myeloid leukemia, 3 patients had myelodysplastic syndrome, and 1 patient had chronic myelomonocytic leukemia...
December 2016: Blood Research
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#3
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28056976/a-novel-approach-to-genome-wide-association-analysis-identifies-genetic-associations-with-primary-biliary-cholangitis-and-primary-sclerosing-cholangitis-in-polish-patients
#4
Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik, Grzegorz Boryczka, Michal Wasilewicz, Irena Ciecko-Michalska, Malgorzata Ferenc, Maria Janiak, Alina Kanikowska, Rafal Stankiewicz, Marek Hartleb, Tomasz Mach, Marian Grzymislawski, Joanna Raszeja-Wyszomirska, Ewa Wunsch, Tomasz Bobinski, Michal Mikula, Jerzy Ostrowski
BACKGROUND: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population. METHODS: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals. Allelotyping employed a pooled-DNA sample-based genome-wide association study (GWAS) approach, using Illumina Human Omni2...
January 6, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28024519/-mechanism-of-a-new-dot1l-inhibitor-epz-5676-and-its-research-progress-review
#5
Li-Hong Li, Jing Wang, Xiao-Yan Ke
Leukemia carring translocation at the 11q23 locus is referred to MLL-rearranged (MLL-r) leukemia, and the occurrence of this genetic lesion is associated with a poor prognosis. The most common translocation chromosomes are chromosomes 4,9 and 10. Recently MLL protein was found to interact with DOT1L (DOT1-like) protein, which can promote leukemogenesis. A new DOT1L inhibitor EPZ-5676 can selectively inhibit proliferation, promote apoptosis and differentiation, which was also found to act synergistically with anti-AML (acute myeloid leukemia) and anti-ALL (acute lymphoblastic leukemia) drugs...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28017614/fto-plays-an-oncogenic-role-in-acute-myeloid-leukemia-as-a-n-6-methyladenosine-rna-demethylase
#6
Zejuan Li, Hengyou Weng, Rui Su, Xiaocheng Weng, Zhixiang Zuo, Chenying Li, Huilin Huang, Sigrid Nachtergaele, Lei Dong, Chao Hu, Xi Qin, Lichun Tang, Yungui Wang, Gia-Ming Hong, Hao Huang, Xiao Wang, Ping Chen, Sandeep Gurbuxani, Stephen Arnovitz, Yuanyuan Li, Shenglai Li, Jennifer Strong, Mary Beth Neilly, Richard A Larson, Xi Jiang, Pumin Zhang, Jie Jin, Chuan He, Jianjun Chen
N(6)-Methyladenosine (m(6)A) represents the most prevalent internal modification in mammalian mRNAs. Despite its functional importance in various fundamental bioprocesses, the studies of m(6)A in cancer have been limited. Here we show that FTO, as an m(6)A demethylase, plays a critical oncogenic role in acute myeloid leukemia (AML). FTO is highly expressed in AMLs with t(11q23)/MLL rearrangements, t(15;17)/PML-RARA, FLT3-ITD, and/or NPM1 mutations. FTO enhances leukemic oncogene-mediated cell transformation and leukemogenesis, and inhibits all-trans-retinoic acid (ATRA)-induced AML cell differentiation, through regulating expression of targets such as ASB2 and RARA by reducing m(6)A levels in these mRNA transcripts...
January 9, 2017: Cancer Cell
https://www.readbyqxmd.com/read/27995876/-evi1-expression-clinical-and-cytogenetical-characteristics-in-447-patients-with-acute-myeloid-leukemia
#7
X F He, Q R Wang, J N Cen, H Y Qiu, A N Sun, S N Chen, D P Wu
Objective: To investigate EVI1 expression and its associated clinical and cytogenetic characteristics in 447 acute myeloid leukemia (AML) patients. Methods: EVI1 expressions were measured in 447 AML cases from Jan. 2007 to Apr. 2015 to couple with clinical, cytogenetic and mutations' characteristics to summarize the features of AMLs with high EVI1 expression. Results: 17.9% of AML were high EVI1 expression (EVI1 (+)), and the remainder low EVI1 expression (EVI1(-)). No significant differences between the two groups in terms of age, sex, hemoglobin level, white blood cell count and platelet count were observed...
November 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27870387/primary-myelofibrosis-2017-update-on-diagnosis-risk-stratification-and-management
#8
Ayalew Tefferi
: Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. DIAGNOSIS: Diagnosis is based on bone marrow morphology...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27856506/risk-assessment-of-maternally-inherited-sdhd-paraganglioma-and-phaeochromocytoma
#9
Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo
BACKGROUND: Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation. OBJECTIVE: To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation. METHODS: Pedigrees of 80 SDHD-related families have been reviewed. 35 asymptomatic subjects carrying a maternally transmitted SDHD mutation were identified...
November 17, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27587254/-clinical-features-and-survival-analysis-of-79-adult-acute-myeloid-leukemia-with-11q23-mll-abnormalities
#10
J Q Hong, C Y Yue, Y M Zhu, Y Gao, J Song, W B Zhuo, B H Ping
No abstract text is available yet for this article.
August 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27529519/changes-in-cytogenetics-and-molecular-genetics-in-acute-myeloid-leukemia-from-childhood-to-adult-age-groups
#11
Ursula Creutzig, Martin Zimmermann, Dirk Reinhardt, Mareike Rasche, Christine von Neuhoff, Tamara Alpermann, Michael Dworzak, Karolína Perglerová, Zuzana Zemanova, Joelle Tchinda, Jutta Bradtke, Christian Thiede, Claudia Haferlach
BACKGROUND: To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. METHODS: This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory)...
December 15, 2016: Cancer
https://www.readbyqxmd.com/read/27517884/the-genetic-basis-of-the-comorbidity-between-cannabis-use-and-major-depression
#12
Karen Hodgson, Laura Almasy, Emma E M Knowles, Jack W Kent, Joanne E Curran, Thomas D Dyer, Harald H H Göring, Rene L Olvera, Mary D Woolsey, Ravi Duggirala, Peter T Fox, John Blangero, David C Glahn
BACKGROUND AND AIMS: While the prevalence of major depression is elevated among cannabis users, the role of genetics in this pattern of comorbidity is not clear. This study aimed to estimate the heritability of cannabis use and major depression, quantify the genetic overlap between these two traits and localize regions of the genome that segregate in families with cannabis use and major depression. DESIGN: Family-based univariate and bivariate genetic analysis. SETTING: San Antonio, Texas, USA...
January 2017: Addiction
https://www.readbyqxmd.com/read/27496968/acute-leukaemia-and-myelodysplastic-syndromes-with-chromosomal-rearrangement-involving-11q23-locus-but-not-mll-gene
#13
Wenli Zuo, Sa A Wang, Courtney DiNardo, Mariko Yabe, Shaoying Li, L Jeffrey Medeiros, Guilin Tang
AIMS: Chromosome 11q23 translocations, resulting in MLL (KMT2A) rearrangement, have been well characterised in acute myeloid leukaemia (AML) and acute lymphoblastic leukaemia (ALL). However, little is known of haematopoietic neoplasms associated with 11q23 translocation but without MLL rearrangement (11q23+/MLL-). The aim of this study is to characterise such cases with 11q23+/MLL-. METHODS AND RESULTS: We retrospectively searched our database for cases with haematopoietic malignancies with 11q23+/MLL-...
August 5, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27424798/genome-wide-association-study-identifies-novel-susceptibility-loci-for-cutaneous-squamous-cell-carcinoma
#14
Harvind S Chahal, Yuan Lin, Katherine J Ransohoff, David A Hinds, Wenting Wu, Hong-Ji Dai, Abrar A Qureshi, Wen-Qing Li, Peter Kraft, Jean Y Tang, Jiali Han, Kavita Y Sarin
Cutaneous squamous cell carcinoma represents the second most common cutaneous malignancy, affecting 7-11% of Caucasians in the United States. The genetic determinants of susceptibility to cutaneous squamous cell carcinoma remain largely unknown. Here we report the results of a two-stage genome-wide association study of cutaneous squamous cell carcinoma, totalling 7,404 cases and 292,076 controls. Eleven loci reached genome-wide significance (P<5 × 10(-8)) including seven previously confirmed pigmentation-related loci: MC1R, ASIP, TYR, SLC45A2, OCA2, IRF4 and BNC2...
July 18, 2016: Nature Communications
https://www.readbyqxmd.com/read/27379672/fine-mapping-of-common-genetic-variants-associated-with-colorectal-tumor-risk-identified-potential-functional-variants
#15
Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters
Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project...
2016: PloS One
https://www.readbyqxmd.com/read/27312513/genome-wide-analysis-of-dna-copy-number-alterations-in-early-and-advanced-gastric-cancers
#16
Noriyuki Arakawa, Tamotsu Sugai, Wataru Habano, Makoto Eizuka, Ryo Sugimoto, Risaburo Akasaka, Yosuke Toya, Eiichiro Yamamoto, Keisuke Koeda, Akira Sasaki, Takayuki Matsumoto, Hiromu Suzuki
To better understand progressive changes in gastric cancer (GC), early and advanced GCs (EGC and AGC, respectively) were examined for copy number alterations (CNAs). A crypt isolation method was used to isolate DNA from tumors and normal glands in 20 AGCs, and fresh tumor samples were obtained from 45 EGCs. We assessed CNAs for differentiated-type GCs using an Infinium HumanCytoSNP-12v2.1 BeadChip in EGCs and AGCs. The most frequent aberrations in EGC were gains at 8q23.3 (42.2%) and 8q23.2 (40%), and loss of heterozygosity (LOH) at 3p14...
February 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/27284737/chromosome-11q23-aberrations-activating-foxr1-in-b-cell-lymphoma
#17
C Pommerenke, V Hauer, M Zaborski, R A F MacLeod, S Nagel, R M Amini, M Berglund, R Geffers, H G Drexler, H Quentmeier
No abstract text is available yet for this article.
June 10, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27280396/eradication-of-acute-myeloid-leukemia-with-flt3-ligand-targeted-mir-150-nanoparticles
#18
Xi Jiang, Jason Bugno, Chao Hu, Yang Yang, Tobias Herold, Jun Qi, Ping Chen, Sandeep Gurbuxani, Stephen Arnovitz, Jennifer Strong, Kyle Ferchen, Bryan Ulrich, Hengyou Weng, Yungui Wang, Hao Huang, Shenglai Li, Mary Beth Neilly, Richard A Larson, Michelle M Le Beau, Stefan K Bohlander, Jie Jin, Zejuan Li, James E Bradner, Seungpyo Hong, Jianjun Chen
Acute myeloid leukemia (AML) is a common and fatal form of hematopoietic malignancy. Overexpression and/or mutations of FLT3 have been shown to occur in the majority of cases of AML. Our analysis of a large-scale AML patient cohort (N = 562) indicates that FLT3 is particularly highly expressed in some subtypes of AML, such as AML with t(11q23)/MLL-rearrangements or FLT3-ITD. Such AML subtypes are known to be associated with unfavorable prognosis. To treat FLT3-overexpressing AML, we developed a novel targeted nanoparticle system: FLT3 ligand (FLT3L)-conjugated G7 poly(amidoamine) (PAMAM) nanosized dendriplex encapsulating miR-150, a pivotal tumor suppressor and negative regulator of FLT3 We show that the FLT3L-guided miR-150 nanoparticles selectively and efficiently target FLT3-overexpressing AML cells and significantly inhibit viability/growth and promote apoptosis of the AML cells...
August 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27257688/distinct-patterns-of-association-of-variants-at-11q23-3-chromosomal-region-with-coronary-artery-disease-and-dyslipidemia-in-the-population-of-andhra-pradesh-india
#19
Rayabarapu Pranav Chand, Arramraju Sreenivas Kumar, Kapadia Anuj, Satti Vishnupriya, Battini Mohan Reddy
In our attempt to comprehensively understand the nature of association of variants at 11q23.3 apolipoprotein gene cluster region, we genotyped a prioritized set of 96 informative SNPs using Fluidigm customized SNP genotyping platform in a sample of 508 coronary artery disease (CAD) cases and 516 controls. We found 12 SNPs as significantly associated with CAD at P <0.05, albeit only four (rs2849165, rs17440396, rs6589566 and rs633389) of these remained significant after Benjamin Hochberg correction. Of the four, while rs6589566 confers risk to CAD, the other three SNPs reduce risk for the disease...
2016: PloS One
https://www.readbyqxmd.com/read/27173335/a-rare-case-of-trisomy-11q23-3-11q25-and-trisomy-22q11-1-22q11-21
#20
P-S Zou, H-F Li, L-S Chen, M Ma, X-H Chen, D Xue, D-H Cao
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18...
May 9, 2016: Genetics and Molecular Research: GMR
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