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https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#1
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29069782/common-genetic-variant-rs3802842-in-11q23-contributes-to-colorectal-cancer-risk-in-chinese-population
#2
Chunze Zhang, Xichuan Li, Weihua Zhang, Yijia Wang, Guanwei Fan, Wenhong Wang, Shuo Chen, Hai Qin, Xipeng Zhang
A genome-wide association study identified a common genetic variant rs3802842 at 11q23 to be associated with CRC risk with OR=1.1 and P = 5.80E-10 in European population. In Chinese population, several genetic association studies have investigated the association between rs3802842 variant and CRC risk. However these studies reported both positive and negative association results. It is still necessary to evaluate a specific variant in a specific population, which would be informative to reveal the disease mechanism...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29059430/genome-wide-association-study-to-identify-susceptibility-loci-that-modify-radiation-related-risk-for-breast-cancer-after-childhood-cancer
#3
MULTICENTER STUDY
Lindsay M Morton, Joshua N Sampson, Gregory T Armstrong, Ting-Huei Chen, Melissa M Hudson, Eric Karlins, Casey L Dagnall, Shengchao Alfred Li, Carmen L Wilson, Deo Kumar Srivastava, Wei Liu, Guolian Kang, Kevin C Oeffinger, Tara O Henderson, Chaya S Moskowitz, Todd M Gibson, Diana M Merino, Jeannette R Wong, Sue Hammond, Joseph P Neglia, Lucie M Turcotte, Jeremy Miller, Laura Bowen, William A Wheeler, Wendy M Leisenring, John A Whitton, Laurie Burdette, Charles Chung, Belynda D Hicks, Kristine Jones, Mitchell J Machiela, Aurelie Vogt, Zhaoming Wang, Meredith Yeager, Geoffrey Neale, Matthew Lear, Louise C Strong, Yutaka Yasui, Marilyn Stovall, Rita E Weathers, Susan A Smith, Rebecca Howell, Stella M Davies, Gretchen A Radloff, Kenan Onel, Amy Berrington de González, Peter D Inskip, Preetha Rajaraman, Joseph F Fraumeni, Smita Bhatia, Stephen J Chanock, Margaret A Tucker, Leslie L Robison
Background: Childhood cancer survivors treated with chest-directed radiotherapy have substantially elevated risk for developing breast cancer. Although genetic susceptibility to breast cancer in the general population is well studied, large-scale evaluation of breast cancer susceptibility after chest-directed radiotherapy for childhood cancer is lacking. Methods: We conducted a genome-wide association study of breast cancer in female survivors of childhood cancer, pooling two cohorts with detailed treatment data and systematic, long-term follow-up: the Childhood Cancer Survivor Study and St...
November 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29023992/therapy-related-chronic-myelomonocytic-leukemia-cmml-molecular-cytogenetic-and-clinical-distinctions-from-de-novo-cmml
#4
Mrinal M Patnaik, Rangit Vallapureddy, Fevzi F Yalniz, Curtis A Hanson, Rhett P Ketterling, Terra L Lasho, Christy Finke, Aref Al-Kali, Naseema Gangat, Ayalew Tefferi
Therapy related myeloid neoplasms (t-MN) including therapy related myelodysplastic syndromes (t-MDS) and acute myeloid leukemia (t-AML) are associated with aggressive disease biologies and poor outcomes. In this large (n = 497) and informative (inclusive of molecular and cytogenetic information) chronic myelomonocytic leukemia (CMML) patient cohort, we demonstrate key biological insights and an independent prognostic impact for t-CMML. T-CMML was diagnosed in 9% of patients and occurred approximately 7 years after exposure to prior chemotherapy and/or radiation therapy...
October 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28960316/genome-wide-association-study-and-meta-analysis-in-northern-european-populations-replicate-multiple-colorectal-cancer-risk-loci
#5
Tomas Tanskanen, Linda van den Berg, Niko Välimäki, Mervi Aavikko, Eivind Ness-Jensen, Kristian Hveem, Yvonne Wettergren, Elinor Bexe Lindskog, Neeme Tõnisson, Andres Metspalu, Kaisa Silander, Giulia Orlando, Philip J Law, Sari Tuupanen, Alexandra E Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Johanna Kondelin, Antti-Pekka Sarin, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Tim S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung K Win, John Hopper, Mark A Jenkins, Polly A Newcomb, Steve Gallinger, David Conti, Fredrick R Schumacher, Graham Casey, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Richard S Houlston, Kimmo Palin, Lauri A Aaltonen
Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry...
September 28, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28945229/the-paf-complex-regulation-of-prmt5-facilitates-the-progression-and-maintenance-of-mll-fusion-leukemia
#6
J Serio, J Ropa, W Chen, M Mysliwski, N Saha, L Chen, J Wang, H Miao, T Cierpicki, J Grembecka, A G Muntean
Acute myeloid leukemia (AML) is a disease associated with epigenetic dysregulation. 11q23 translocations involving the H3K4 methyltransferase MLL1 (KMT2A) generate oncogenic fusion proteins with deregulated transcriptional potential. The polymerase-associated factor complex (PAFc) is an epigenetic co-activator complex that makes direct contact with MLL fusion proteins and is involved in AML, however, its functions are not well understood. Here, we explored the transcriptional targets regulated by the PAFc that facilitate leukemia by performing RNA-sequencing after conditional loss of the PAFc subunit Cdc73...
September 25, 2017: Oncogene
https://www.readbyqxmd.com/read/28883080/phenotype-in-combination-with-genotype-improves-outcome-prediction-in-acute-myeloid-leukemia-a-report-from-children-s-oncology-group-protocol-aaml0531
#7
Andrew P Voigt, Lisa Eidenschink Brodersen, Todd A Alonzo, Robert B Gerbing, Andrew J Menssen, Elisabeth R Wilson, Samir Kahwash, Susana C Raimondi, Betsy A Hirsch, Alan S Gamis, Soheil Meshinchi, Denise A Wells, Michael R Loken
Diagnostic biomarkers can be used to determine relapse risk in acute myeloid leukemia, and certain genetic aberrancies have prognostic relevance. A diagnostic immunophenotypic expression profile, which quantifies the amounts of distinct gene products, not just their presence or absence, was established to improve outcome prediction for patients with acute myeloid leukemia. The immunophenotypic expression profile, which defines each patient's leukemia as a location in 15-dimensional space, was generated for 769 patients enrolled in the Children's Oncology Group AAML0531 protocol...
September 7, 2017: Haematologica
https://www.readbyqxmd.com/read/28871137/c-terminal-bre-overexpression-in-11q23-rearranged-and-t-8-16-acute-myeloid-leukemia-is-caused-by-intragenic-transcription-initiation
#8
A E Marneth, K H M Prange, A S A Al Hinai, S M Bergevoet, N Tesi, E Janssen-Megens, B Kim, N Sharifi, M L Yaspo, J Kuster, M A Sanders, E C G Stoetman, J Knijnenburg, T C J M Peters, C M Zwaan, H G Stunnenberg, M M van den Heuvel-Eibrink, T Haferlach, M Fornerod, J H Jansen, P J M Valk, B A van der Reijden, J H A Martens
Overexpression of the BRE (Brain and Reproductive organ-Expressed) gene defines a distinct pediatric and adult acute myeloid leukemia (AML) subgroup. Here we identify a promoter enriched for active chromatin marks in BRE intron 4 causing strong biallelic expression of a previously unknown C-terminal BRE transcript. This transcript starts with BRE intron 4 sequences spliced to exon 5 and downstream sequences, and if translated might code for an N-terminally truncated BRE protein. Remarkably, the new BRE transcript was highly expressed in over 50% of 11q23/KMT2A-rearranged and t(8;16)/KAT6A-CREBBP cases, while it was virtually absent from other AML subsets and normal tissues...
September 5, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28610615/quantitative-trait-loci-at-the-11q23-3-chromosomal-region-related-to-dyslipidemia-in-the-population-of-andhra-pradesh-india
#9
Rayabarapu Pranavchand, Battini Mohan Reddy
BACKGROUND: Given the characteristic atherogenic dyslipidemia of south Indian population and crucial role of APOA1, APOC3, APOA4 and APOA5 genes clustered in 11q23.3 chromosomal region in regulating lipoprotein metabolism and cholesterol homeostasis, a large number of recently identified variants are to be explored for their role in regulating the serum lipid parameters among south Indians. METHODS: Using fluidigm SNP genotyping platform, a prioritized set of 96 SNPs of the 11q23...
June 13, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28608921/whole-exome-sequencing-reveals-critical-genes-underlying-metastasis-in-oesophageal-squamous-cell-carcinoma
#10
Wei Dai, Josephine Mun Yee Ko, Sheyne Sta Ana Choi, Zhouyou Yu, Luwen Ning, Hong Zheng, Vinod Gopalan, Kin Tak Chan, Nikki Pui-Yue Lee, Kwok Wah Chan, Simon Ying-Kit Law, Alfred King-Yin Lam, Maria Li Lung
Oesophageal squamous cell carcinoma (ESCC) is one of the most lethal cancers, owing to a high frequency of metastasis. However, little is known about the genomic landscape of metastatic ESCC. To identify the genetic alterations that underlie ESCC metastasis, whole-exome sequencing was performed for 41 primary tumours and 15 lymph nodes (LNs) with metastatic ESCCs. Eleven cases included matched primary tumours, synchronous LN metastases, and non-neoplastic mucosa. Approximately 50-76% of the mutations identified in primary tumours appeared in the synchronous LN metastases...
August 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28553957/genetic-association-study-of-exfoliation-syndrome-identifies-a-protective-rare-variant-at-loxl1-and-five-new-susceptibility-loci
#11
Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt, Gudmar Thorleifsson, Takanori Mizoguchi, Robert P Igo, Aravind Haripriya, Susan E Williams, Yury S Astakhov, Andrew C Orr, Kathryn P Burdon, Satoko Nakano, Kazuhiko Mori, Khaled Abu-Amero, Michael Hauser, Zheng Li, Gopalakrishnan Prakadeeswari, Jessica N Cooke Bailey, Alina Popa Cherecheanu, Jae H Kang, Sarah Nelson, Ken Hayashi, Shin-Ichi Manabe, Shigeyasu Kazama, Tomasz Zarnowski, Kenji Inoue, Murat Irkec, Miguel Coca-Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio Schlottmann, S Fabian Lerner, Hasnaa Lamari, Yildirim Nilgün, Mukharram Bikbov, Ki Ho Park, Soon Cheol Cha, Kenji Yamashiro, Juan C Zenteno, Jost B Jonas, Rajesh S Kumar, Shamira A Perera, Anita S Y Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach-Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda L Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya-Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, Sergo Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Mardin, Panayiota Founti, Anthi Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Vijayan Saravanan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Alireza Lashay, Homa Naderifar, Nassim Khatibi, Antonio Fea, Carlo Lavia, Laura Dallorto, Teresa Rolle, Paolo Frezzotti, Daniela Paoli, Erika Salvi, Paolo Manunta, Yosai Mori, Kazunori Miyata, Tomomi Higashide, Etsuo Chihara, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Tsutomu Ohashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Makoto Aihara, Masaru Inatani, Masahiro Miyake, Norimoto Gotoh, Fumihiko Matsuda, Nagahisa Yoshimura, Yoko Ikeda, Morio Ueno, Chie Sotozono, Jin Wook Jeoung, Min Sagong, Kyu Hyung Park, Jeeyun Ahn, Marisa Cruz-Aguilar, Sidi M Ezzouhairi, Abderrahman Rafei, Yaan Fun Chong, Xiao Yu Ng, Shuang Ru Goh, Yueming Chen, Victor H K Yong, Muhammad Imran Khan, Olusola O Olawoye, Adeyinka O Ashaye, Idakwo Ugbede, Adeola Onakoya, Nkiru Kizor-Akaraiwe, Chaiwat Teekhasaenee, Yanin Suwan, Wasu Supakontanasan, Suhanya Okeke, Nkechi J Uche, Ifeoma Asimadu, Humaira Ayub, Farah Akhtar, Ewa Kosior-Jarecka, Urszula Lukasik, Ignacio Lischinsky, Vania Castro, Rodolfo Perez Grossmann, Gordana Sunaric Megevand, Sylvain Roy, Edward Dervan, Eoin Silke, Aparna Rao, Priti Sahay, Pablo Fornero, Osvaldo Cuello, Delia Sivori, Tamara Zompa, Richard A Mills, Emmanuelle Souzeau, Paul Mitchell, Jie Jin Wang, Alex W Hewitt, Michael Coote, Jonathan G Crowston, Sergei Y Astakhov, Eugeny L Akopov, Anton Emelyanov, Vera Vysochinskaya, Gyulli Kazakbaeva, Rinat Fayzrakhmanov, Saleh A Al-Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Balram Chowbay, Jia Nee Foo, Raphael Q Soh, Kar Seng Sim, Zhicheng Xie, Augustine W O Cheong, Shi Qi Mok, Hui Meng Soo, Xiao Yin Chen, Su Qin Peh, Khai Koon Heng, Rahat Husain, Su-Ling Ho, Axel M Hillmer, Ching-Yu Cheng, Francisco A Escudero-Domínguez, Rogelio González-Sarmiento, Frederico Martinon-Torres, Antonio Salas, Kessara Pathanapitoon, Linda Hansapinyo, Boonsong Wanichwecharugruang, Naris Kitnarong, Anavaj Sakuntabhai, Hip X Nguyn, Giang T T Nguyn, Trình V Nguyn, Werner Zenz, Alexander Binder, Daniela S Klobassa, Martin L Hibberd, Sonia Davila, Stefan Herms, Markus M Nöthen, Susanne Moebus, Robyn M Rautenbach, Ari Ziskind, Trevor R Carmichael, Michele Ramsay, Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Pedro P Rodríguez-Calvo, Luis Fernández-Vega Cueto, Çilingir Oguz, Nevbahar Tamcelik, Eray Atalay, Bilge Batu, Dilek Aktas, Burcu Kasım, M Roy Wilson, Anne L Coleman, Yutao Liu, Pratap Challa, Leon Herndon, Rachel W Kuchtey, John Kuchtey, Karen Curtin, Craig J Chaya, Alan Crandall, Linda M Zangwill, Tien Yin Wong, Masakazu Nakano, Shigeru Kinoshita, Anneke I den Hollander, Eija Vesti, John H Fingert, Richard K Lee, Arthur J Sit, Bradford J Shingleton, Ningli Wang, Daniele Cusi, Raheel Qamar, Peter Kraft, Margaret A Pericak-Vance, Soumya Raychaudhuri, Steffen Heegaard, Tero Kivelä, André Reis, Friedrich E Kruse, Robert N Weinreb, Louis R Pasquale, Jonathan L Haines, Unnur Thorsteinsdottir, Fridbert Jonasson, R Rand Allingham, Dan Milea, Robert Ritch, Toshiaki Kubota, Kei Tashiro, Eranga N Vithana, Shazia Micheal, Fotis Topouzis, Jamie E Craig, Michael Dubina, Periasamy Sundaresan, Kari Stefansson, Janey L Wiggs, Francesca Pasutto, Chiea Chuen Khor
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2...
July 2017: Nature Genetics
https://www.readbyqxmd.com/read/28551095/an-in-depth-analysis-identifies-two-new-independent-signals-in-11q23-3-associated-with-vitiligo-in-the-chinese-han-population
#12
Suli Zhao, Fang Fang, Xianfa Tang, Jinfa Dou, Wenjun Wang, Xiaodong Zheng, Liangdan Sun, Anping Zhang
BACKGROUND: Vitiligo is an autoimmune disease, characterized by progressive loss of skin pigmentation, which is caused by the interactions of multiple factors, such as heredity, immunity and environment. Recently, a single nucleotide polymorphism (SNP) rs638893 at 11q23.3 region was identified as a risk factor for vitiligo in genome-wide association studies and multiple SNPs in this region have been associated with other autoimmune diseases. OBJECTIVE: This study aims to identify additional susceptibility variants associated with vitiligo at 11q23...
October 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#13
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28472463/genome-wide-association-study-meta-analysis-for-quantitative-ultrasound-parameters-of-bone-identifies-five-novel-loci-for-broadband-ultrasound-attenuation
#14
Benjamin H Mullin, Jing Hua Zhao, Suzanne J Brown, John R B Perry, Jian'an Luan, Hou-Feng Zheng, Claudia Langenberg, Frank Dudbridge, Robert Scott, Nick J Wareham, Tim D Spector, J Brent Richards, John P Walsh, Scott G Wilson
Osteoporosis is a common and debilitating bone disease that is characterised by low bone mineral density, typically assessed using dual-energy X-ray absorptiometry. Quantitative ultrasound (QUS), commonly utilising the two parameters velocity of sound (VOS) and broadband ultrasound attenuation (BUA), is an alternative technology used to assess bone properties at peripheral skeletal sites. The genetic influence on the bone qualities assessed by QUS remains an under-studied area. We performed a comprehensive genome-wide association study (GWAS) including low-frequency variants (minor allele frequency ≥0...
July 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28445147/identification-of-rs7350481-at-chromosome-11q23-3-as-a-novel-susceptibility-locus-for-metabolic-syndrome-in-japanese-individuals-by-an-exome-wide-association-study
#15
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We have performed exome-wide association studies to identify genetic variants that influence body mass index or confer susceptibility to obesity or metabolic syndrome in Japanese. The exome-wide association study for body mass index included 12,890 subjects, and those for obesity and metabolic syndrome included 12,968 subjects (3954 individuals with obesity, 9014 controls) and 6817 subjects (3998 individuals with MetS, 2819 controls), respectively. Exome-wide association studies were performed with Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays...
June 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28380436/classification-of-pediatric-acute-myeloid-leukemia-based-on-mirna-expression-profiles
#16
Askar Obulkasim, Jenny E Katsman-Kuipers, Lonneke Verboon, Mathijs Sanders, Ivo Touw, Mojca Jongen-Lavrencic, Rob Pieters, Jan-Henning Klusmann, C Michel Zwaan, Marry M van den Heuvel-Eibrink, Maarten Fornerod
Pediatric acute myeloid leukemia (AML) is a heterogeneous disease with respect to biology as well as outcome. In this study, we investigated whether known biological subgroups of pediatric AML are reflected by a common microRNA (miRNA) expression pattern. We assayed 665 miRNAs on 165 pediatric AML samples. First, unsupervised clustering was performed to identify patient clusters with common miRNA expression profiles. Our analysis unraveled 14 clusters, seven of which had a known (cyto-)genetic denominator. Finally, a robust classifier was constructed to discriminate six molecular aberration groups: 11q23-rearrangements, t(8;21)(q22;q22), inv(16)(p13q22), t(15;17) (q21;q22), NPM1 and CEBPA mutations...
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28341732/novel-recurrent-chromosomal-aberrations-detected-in-clonal-plasma-cells-of-light-chain-amyloidosis-patients-show-potential-adverse-prognostic-effect-first-results-from-a-genome-wide-copy-number-array-analysis
#17
Martin Granzow, Ute Hegenbart, Katrin Hinderhofer, Dirk Hose, Anja Seckinger, Tilmann Bochtler, Kari Hemminki, Hartmut Goldschmidt, Stefan O Schönland, Anna Jauch
Immunoglobulin light chain (AL) amyloidosis is a rare plasma cell dyscrasia characterized by the deposition of abnormal amyloid fibrils in multiple organs, thus impairing their function. In the largest cohort studied up to now of 118 CD138-purified plasma cell samples from previously untreated immunoglobulin light chain amyloidosis patients, we assessed in parallel copy number alterations using high-density copy number arrays and interphase fluorescence in situ hybridization (iFISH). We used fluorescence in situ hybridization probes for the IgH translocations t(11;14), t(4;14), and t(14;16) or any other IgH rearrangement as well as numerical aberrations of the chromosome loci 1q21, 8p21, 5p15/5q35, 11q22...
July 2017: Haematologica
https://www.readbyqxmd.com/read/28333413/extramedullary-leukemia-in-children-with-acute-myeloid-leukemia-a-population-based-cohort-study-from-the-nordic-society-of-pediatric-hematology-and-oncology-nopho
#18
Heidi Kristine Støve, Julie Damgaard Sandahl, Jonas Abrahamsson, Peter H Asdahl, Erik Forestier, Shau-Yin Ha, Kirsi Jahnukainen, Ólafur G Jónsson, Birgitte Lausen, Josefine Palle, Bernward Zeller, Henrik Hasle
BACKGROUND: The prognostic significance of extramedullary leukemia (EML) in childhood acute myeloid leukemia is not clarified. PROCEDURE: This population-based study included 315 children from the NOPHO-AML 2004 trial. RESULTS: At diagnosis, 73 (23%) patients had EML: 39 (12%) had myeloid sarcoma, 22 (7%) had central nervous system disease, and 12 (4%) had both. EML was associated with young age (median age: 2.6 years), a high white blood cell count (median: 40 × 10(9) /l), M5 morphology (40%), and 11q23/MLL (KMT2A) rearrangements (34%)...
December 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28257648/genetic-determinants-of-clinical-heterogeneity-of-the-coronary-artery-disease-in-the-population-of-hyderabad-india
#19
Rayabarapu Pranavchand, Arramraju Sreenivas Kumar, Battini Mohan Reddy
BACKGROUND: Genetic predisposition to the clinical categories of coronary artery disease (anatomical viz., insignificant, single, double, and triple vessel diseases and phenotypic severity categories viz., angina, acute coronary syndrome, and myocardial infarction) is poorly understood. Particularly, the apolipoprotein genes clustered at 11q23.3 chromosomal region play a vital role in cholesterol homeostasis, and a large number of SNPs identified in this region need to be explored for their association with the clinical categories of CAD...
March 4, 2017: Human Genomics
https://www.readbyqxmd.com/read/28254208/molecular-cytogenetic-characterization-of-jacobsen-syndrome-11q23-3-q25-deletion-in-a-fetus-associated-with-double-outlet-right-ventricle-hypoplastic-left-heart-syndrome-and-ductus-venosus-agenesis-on-prenatal-ultrasound
#20
Chih-Ping Chen, Liang-Kai Wang, Pei-Chen Wu, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. CASE REPORT: A 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot...
February 2017: Taiwanese Journal of Obstetrics & Gynecology
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