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https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#1
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656891/timing-the-landmark-events-in-the-evolution-of-clear-cell-renal-cell-cancer-tracerx-renal
#2
Thomas J Mitchell, Samra Turajlic, Andrew Rowan, David Nicol, James H R Farmery, Tim O'Brien, Inigo Martincorena, Patrick Tarpey, Nicos Angelopoulos, Lucy R Yates, Adam P Butler, Keiran Raine, Grant D Stewart, Ben Challacombe, Archana Fernando, Jose I Lopez, Steve Hazell, Ashish Chandra, Simon Chowdhury, Sarah Rudman, Aspasia Soultati, Gordon Stamp, Nicos Fotiadis, Lisa Pickering, Lewis Au, Lavinia Spain, Joanna Lynch, Mark Stares, Jon Teague, Francesco Maura, David C Wedge, Stuart Horswell, Tim Chambers, Kevin Litchfield, Hang Xu, Aengus Stewart, Reza Elaidi, Stéphane Oudard, Nicholas McGranahan, Istvan Csabai, Martin Gore, P Andrew Futreal, James Larkin, Andy G Lynch, Zoltan Szallasi, Charles Swanton, Peter J Campbell
Clear cell renal cell carcinoma (ccRCC) is characterized by near-universal loss of the short arm of chromosome 3, deleting several tumor suppressor genes. We analyzed whole genomes from 95 biopsies across 33 patients with clear cell renal cell carcinoma. We find hotspots of point mutations in the 5' UTR of TERT, targeting a MYC-MAX-MAD1 repressor associated with telomere lengthening. The most common structural abnormality generates simultaneous 3p loss and 5q gain (36% patients), typically through chromothripsis...
April 4, 2018: Cell
https://www.readbyqxmd.com/read/29614393/lenalidomide-treatment-in-lower-risk-myelodysplastic-syndromes-the-experience-of-a-czech-hematology-center-positive-effect-of-erythropoietin-%C3%A2-prednisone-addition-to-lenalidomide-in-refractory-or-relapsed-patients
#3
Anna Jonasova, Radana Neuwirtova, Helena Polackova, Magda Siskova, Tomas Stopka, Eduard Cmunt, Monika Belickova, Alena Moudra, Lubomir Minarik, Ota Fuchs, Kyra Michalova, Zuzana Zemanova
Lenalidomide therapy represents meaningful progress in the treatment of anemic patients with myelodysplastic syndromes with del(5q). We present our initial lenalidomide experience and the positive effect of combining erythropoietin and steroids with lenalidomide in refractory and relapsed patients. We treated by lenalidomide 55 (42 female; 13 male; median age 69) chronically transfused lower risk MDS patients with del(5q) (45) and non-del(5q) (10). Response, meaning transfusion independence (TI) lasting ≥ eight weeks, was achieved in 38 (90%) of analyzed patients with del(5q), of whom three achieved TI only by adding erythropoietin ± prednisone...
March 27, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29604542/design-synthesis-and-bioevaluation-of-1-2-3-9-tetrahydropyrrolo-2-1-b-quinazoline-1-carboxylic-acid-derivatives-as-potent-neuroprotective-agents
#4
Linkui Zhang, Ying Zhao, Jian Wang, Donglin Yang, Chenwen Zhao, Changli Wang, Chao Ma, Maosheng Cheng
Diverse of 1,2,3,9-tetrahydropyrrolo[2,1-b]quinazoline-1-carboxylic acid derivatives were designed, synthesized and evaluated for their neuroprotective activity against NMDA-induced cytotoxicity in vitro, and 5q exhibited excellent neuroprotective activity. The compound 5q was selected for further investigation. We found that 5q could attenuate Ca2+ influx induced by NMDA, meanwhile, 5q could suppress the NR2B up-regulation and increase p-ERK1/2 expression. The molecular docking results showed that 5q might fit well in the binding pocket of 4 and interact with some key residues in the binding pocket of 1 simultaneously...
March 23, 2018: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29593015/an-apoo-pseudogene-on-chromosome-5q-is-associated-with-ldl-c-levels
#5
May E Montasser, Elizabeth A O'Hare, Xiaochun Wang, Alicia D Howard, Rebecca McFarland, James A Perry, Kathleen A Ryan, Kenneth Rice, Cashell E Jaquish, Alan R Shuldiner, Michael Miller, Braxton D Mitchell, Norann A Zaghloul, Yen-Pei C Chang
Background -Elevated levels of low-density lipoprotein cholesterol (LDL-C) are a major risk factor for CVD via its contribution to the development and progression of atherosclerotic lesions. While the genetic basis of LDL-C has been studied extensively, currently known genetic variants account for only ~20% of the variation in LDL-C levels. Methods -Through an array-based association analysis in 1,102 Amish subjects, we identified a variant strongly associated with LDL-C levels. Using a combination of genetic analyses, zebrafish models, and in in vitro experiments, we sought to identify the causal gene driving this association...
March 28, 2018: Circulation
https://www.readbyqxmd.com/read/29569278/lenalidomide-treatment-of-myelodysplastic-syndromes-with-chromosome-5q-deletion-results-from-the-national-registry-of-the-italian-drug-agency
#6
Francesco Arcioni, Andrea Roncadori, Valeria Di Battista, Sante Tura, Anna Covezzoli, Sante Cundari, Cristina Mecucci
OBJECTIVE: The most typical cytogenetic aberration in myelodysplastic syndromes is del(5q), which, when isolated, is associated with refractory anemia and good prognosis. Based on high rates of erythroid response and transfusion independence, Lenalidomide (LEN) became the standard treatment. This multi-centre study was designed to supplement Italian Registry data on LEN by addressing prescription, administration appropriateness, hematological and cytogenetic responses and disease evolution...
March 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29562176/kibra-wwc1-is-a-metastasis-suppressor-gene-affected-by-chromosome-5q-loss-in-triple-negative-breast-cancer
#7
Jennifer F Knight, Vanessa Y C Sung, Elena Kuzmin, Amber L Couzens, Danielle A de Verteuil, Colin D H Ratcliffe, Paula P Coelho, Radia M Johnson, Payman Samavarchi-Tehrani, Tina Gruosso, Harvey W Smith, Wontae Lee, Sadiq M Saleh, Dongmei Zuo, Hong Zhao, Marie-Christine Guiot, Ryan R Davis, Jeffrey P Gregg, Christopher Moraes, Anne-Claude Gingras, Morag Park
Triple-negative breast cancers (TNBCs) display a complex spectrum of mutations and chromosomal aberrations. Chromosome 5q (5q) loss is detected in up to 70% of TNBCs, but little is known regarding the genetic drivers associated with this event. Here, we show somatic deletion of a region syntenic with human 5q33.2-35.3 in a mouse model of TNBC. Mechanistically, we identify KIBRA as a major factor contributing to the effects of 5q loss on tumor growth and metastatic progression. Re-expression of KIBRA impairs metastasis in vivo and inhibits tumorsphere formation by TNBC cells in vitro...
March 20, 2018: Cell Reports
https://www.readbyqxmd.com/read/29560516/combinational-chromosomal-aneuploidies-and-hpv-status-for-prediction-of-head-and-neck-squamous-cell-carcinoma-prognosis-in-biopsies-and-cytological-preparations
#8
Silke Wemmert, Maximilian Linxweiler, Cornelia Lerner, Florian Bochen, Philipp Kulas, Johannes Linxweiler, Sigrun Smola, Steffi Urbschat, Stefan Wagenpfeil, Bernhard Schick
PURPOSE: Head and neck squamous cell carcinoma (HNSCC) is one of the most common human cancer types with a very poor prognosis despite improvements in therapeutic modalities. The major known risk factors are tobacco use and alcohol consumption or infection with high-risk human papilloma viruses (HPV), especially in oropharyngeal tumors. The current management based on the assessment of a variety of clinical and pathological parameters does not sufficiently predict outcome. METHODS: Chromosomal alterations detected in HNSCCs were characterized by metaphase comparative genomic hybridization (CGH) and correlated with clinical parameters as well as survival time...
March 20, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29555573/whole-exome-sequencing-identified-mutational-profiles-of-squamous-cell-carcinomas-of-anus
#9
Sun Shin, Hyeon-Chun Park, Min Sung Kim, Mi-Ryung Han, Sung Hak Lee, Seung Hyun Jung, Sug Hyung Lee, Yeun-Jun Chung
Anal squamous cell carcinoma (ASCC), either with human papillomavirus (HPV) (+) or (-), is a neoplastic disease with frequent recurrence and metastasis. To characterize ASCC genomes, we attempted to disclose novel alterations of ASCC genomes as well as other genetic features including mutation signatures. We performed whole-exome sequencing and copy number alteration (CNA) profiling for 8 ASCC samples from 6 patients (2 cases with primary and recurrent/metastatic tumors). We found known ASCC mutations (TP53, CDKN2A and PIK3CA) and CNAs (gains on 3q and 19q and losses on 11q and 13q)...
March 16, 2018: Human Pathology
https://www.readbyqxmd.com/read/29529502/molecular-interaction-of-novel-benzothiazolyl-triazolium-analogues-with-calf-thymus-dna-and-hsa-their-biological-investigation-as-potent-antimicrobial-agents
#10
Swetha K Maddili, Ramesh Katla, Vijaya Kumar Kannekanti, Naveen Kumar Bejjanki, Balaraju Tuniki, Cheng-He Zhou, Himabindu Gandham
The binding behaviour between calf thymus DNA and synthesized benzothiazolyl triazolium derivatives as potent antimicrobial agents was explored by means of spectroscopic applications together with molecular docking study at the sub-domain IIA, binding site I of human serum albumin (HSA). Most of the synthesized derivatives presented significant antimicrobial inhibition when compared with the clinical Norfloxacin, Chloromycin, and Fluconazole. In particular, compound 5q presented efficient anti-Bacillus subtilis, anti-Escherichia coli, anti-Salmonella typhi, and anti-Psuedomonas aeruginosa activity with low MIC values of 2-8 μg/mL which were relatively superior to the reference drugs...
February 21, 2018: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29515972/genetic-alterations-in-essential-thrombocythemia-progression-to-acute-myeloid-leukemia-a-case-series-and-review-of-the-literature
#11
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29472722/chromothripsis-in-acute-myeloid-leukemia-biological-features-and-impact-on-survival
#12
Maria Chiara Fontana, Giovanni Marconi, Jelena D Milosevic Feenstra, Eugenio Fonzi, Cristina Papayannidis, Andrea Ghelli Luserna di Rorá, Antonella Padella, Vincenza Solli, Eugenia Franchini, Emanuela Ottaviani, Anna Ferrari, Carmen Baldazzi, Nicoletta Testoni, Ilaria Iacobucci, Simona Soverini, Torsten Haferlach, Viviana Guadagnuolo, Lukas Semerad, Michael Doubek, Michael Steurer, Zdenek Racil, Stefania Paolini, Marco Manfrini, Michele Cavo, Giorgia Simonetti, Robert Kralovics, Giovanni Martinelli
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study defines incidence of chromothripsis in 395 newly diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix® ) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients...
February 23, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29445113/a-decade-of-progress-in-myelodysplastic-syndrome-with-chromosome-5q-deletion
#13
REVIEW
Alan List, Benjamin L Ebert, Pierre Fenaux
There are few instances in oncology where reciprocal clinical and laboratory translation studies have accelerated the understanding of disease biology and treatment more so than the decade following the Food and Drug Administration (FDA) approval of lenalidomide (RevlimidTM ; Celgene Corporation, Summit, NJ, USA) for the treatment of patients with myelodysplastic syndrome (MDS) and chromosome 5q deletion (del(5q)). Lenalidomide was approved by the FDA in December 2005 on the merits of a multicenter phase 2 study, which demonstrated sustained and prolonged transfusion independence in the majority of participants...
January 30, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29439733/measuring-empathy-in-pediatrics-validation-of-the-visual-care-measure
#14
Michele Arigliani, Luigi Castriotta, Anna Pusiol, Annachiara Titolo, Enrico Petoello, Alberto Brun Peressut, Elisabetta Miorin, Iana Elkina, Federico Marzona, Davide Cucchiaro, Elisa Spanghero, Matteo Pavan, Raffaele Arigliani, Stewart W Mercer, Paola Cogo
BACKGROUND: Empathy is a key element of "Patient and Family Centered Care", a clinical approach recommended by the American Academy of Pediatrics. However, there is a lack of validated tools to evaluate paediatrician empathy. This study aimed to validate the Visual CARE Measure, a patient rated questionnaire measuring physician empathy, in the setting of a Pediatric Emergency Department (ED). METHODS: The empathy of physicians working in the Pediatric ED of the University Hospital of Udine, Italy, was assessed using an Italian translation of the Visual Care Measure...
February 13, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29435930/quantum-language-of-microrna-application-for-new-cancer-therapeutic-targets
#15
Yoichi Robertus Fujii
MicroRNA (miRNA) is the noncoding gene: therefore, the miRNA gene inheritably controls protein gene expression through transcriptional and post-transcriptional levels. Aberrant expression of miRNA genes causes various human diseases, especially cancers. Although cancer is a complex disease, cancer/miRNA implication has yet been grasped from the perspective of miRNA profile in bed side. Since miRNA is the mobile genetic element, the clinical verification of miRNA in microvesicle of blood is too much straggle to predict potential cancer/miRNA associations without bioinformatical computing...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29435294/therapy-associated-myelodysplastic-syndrome-with-monosomy-7-arising-in-a-muir-torre-syndrome-patient-carrying-setbp1-mutation
#16
David Ullman, Erin Baumgartner, Nicholas Wnukowski, Gabe Koenig, Fady M Mikhail, Peter Pavlidakey, Deniz Peker
Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. T-MDS is associated with prior exposure to chemo- and radiotherapy that potentially results in DNA damage...
February 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29429612/the-effect-of-lenalidomide-on-health-related-quality-of-life-in-patients-with-lower-risk-non-del-5q-myelodysplastic-syndromes-results-from-the-mds-005-study
#17
Valeria Santini, Antonio Almeida, Aristoteles Giagounidis, Uwe Platzbecker, Rena Buckstein, C L Beach, Shien Guo, Arman Altincatal, Chengqing Wu, Pierre Fenaux
BACKGROUND: The phase III MDS-005 study compared lenalidomide versus placebo in red blood cell transfusion-dependent (RBC-TD) patients with lower-risk non-del(5q) myelodysplastic syndromes (MDS), ineligible/refractory to erythropoiesis-stimulating agents. Lenalidomide-treated patients were more likely to achieve transfusion independence (TI) ≥ 8 weeks (26.9% vs. 2.5%; P < .001) and hemoglobin increase ≥ 1.5 g/dL (19.4% vs. 2.5%) versus placebo. PATIENTS AND METHODS: Patients were randomized 2:1 to oral lenalidomide 10 mg once daily or placebo once daily (both on 28-day cycles)...
February 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29411698/lenalidomide-in-non-deletion-5q-lower-risk-myelodysplastic-syndromes-a-glass-quarter-full-or-three-quarters-empty
#18
Rory M Shallis, Amer M Zeidan
No abstract text is available yet for this article.
February 7, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29411666/asxl1-mutations-in-aml-are-associated-with-specific-clinical-and-cytogenetic-characteristics
#19
Katerina Kakosaiou, Fotios Panitsas, Aggeliki Daraki, Maria Pagoni, Paraskevi Apostolou, Agapi Ioannidou, Ioanna Vlachadami, Theodoros Marinakis, Chara Giatra, Diamantina Vasilatou, Constantina Sambani, Vassiliki Pappa, Kalliopi N Manola
Mutations of ASXL1 are early events in acute myeloid leukemia (AML) leukemogenesis and have been associated with unfavorable prognosis. In this study, we investigated the type and frequency of ASXL1 mutations in a large cohort of patients with de novo or secondary AML (s-AML) and looked for correlations with cytogenetic findings and disease features. ASXL1 mutations were associated with older age, s-AML and higher peripheral leukocytosis. We observed more frequent co-occurrence of ASXL1 mutations with trisomy 8 and chromosome 11 aberrations but a negative correlation with myelodysplastic syndromes (MDS)-related cytogenetic abnormalities, especially -5/del(5q) and -7/del(7q)...
February 7, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29408805/ribonuclease-inhibitor-1-regulates-erythropoiesis-by-controlling-gata1-mrna-translation
#20
Vijaykumar Chennupati, Diogo Ft Veiga, Kendle M Maslowski, Nicola Andina, Aubry Tardivel, Eric Chi-Wang Yu, Martina Stilinovic, Cedric Simillion, Michel A Duchosal, Manfredo Quadroni, Irene Roberts, Vijay G Sankaran, H Robson MacDonald, Nicolas Fasel, Anne Angelillo-Scherrer, Pascal Schneider, Trang Hoang, Ramanjaneyulu Allam
Ribosomal proteins (RP) regulate specific gene expression by selectively translating subsets of mRNAs. Indeed, in Diamond-Blackfan anaemia and 5q- syndrome, mutations in RP genes lead to a specific defect in erythroid gene translation and cause anaemia. Little is known about the molecular mechanisms of selective mRNA translation and involvement of ribosomal-associated factors in this process. Ribonuclease inhibitor (RNH1) is an ubiquitously expressed protein that binds to and inhibits pancreatic-type ribonucleases...
February 6, 2018: Journal of Clinical Investigation
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