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https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#1
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895642/functional-and-structural-characterization-of-a-novel-hla-drb1-04-01-restricted-%C3%AE-enolase-t-cell-epitope-in-rheumatoid-arthritis
#2
Christina Gerstner, Anatoly Dubnovitsky, Charlotta Sandin, Genadiy Kozhukh, Hannes Uchtenhagen, Eddie A James, Johan Rönnelid, Anders Jimmy Ytterberg, Jennifer Pieper, Evan Reed, Carolina Tandre, Mary Rieck, Roman A Zubarev, Lars Rönnblom, Tatyana Sandalova, Jane H Buckner, Adnane Achour, Vivianne Malmström
Antibodies to citrullinated proteins, common in rheumatoid arthritis (RA) patients, are strongly associated to a specific set of HLA-DR alleles including HLA-DRB1*04:01, *04:04, and *01:01. Here, we first demonstrate that autoantibody levels toward the dominant citrullinated B cell epitope from α-enolase are significantly elevated in HLA-DRB1*04:01-positive RA patients. Furthermore, we identified α-enolase-derived T cell epitopes and demonstrated that native and citrullinated versions of several peptides bind with different affinities to HLA-DRB1*04:01, *04:04, and *01:01...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27888038/evidence-of-bottleneck-effect-on-hepatitis-c-virus-transmission-between-a-couple-under-interferon-based-therapy
#3
Rafael Alves da Silva, Isabel Maria Vicente Guedes de Carvalho, Renata Prandini Adum de Matos, Lilian Hiromi Tomonari Yamasaki, Cíntia Bittar, Paula Rahal, Ana Carolina Gomes Jardim
Issues on the correlation of viral genetic diversity and treatment response to the hepatitis C infection remain uncertain. The bottleneck effect dictates the characteristics of the viral population that will establish the infection in a new host and is related to how the immune system and treatment will be effective against the virus. Here we evaluated the phylogenetic characteristics of quasispecies population and the treatment response pattern of a HCV infected couple. We also analyzed whether the viral population of these patients indicated that they were exposed to the same source for primer infection...
November 22, 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27877079/amplification-and-overexpression-of-cttn-and-ccnd1-at-chromosome-11q13-in-esophagus-squamous-cell-carcinoma-escc-of-north-eastern-chinese-population
#4
Xiaoxia Hu, Ji Wook Moon, Shibo Li, Weihong Xu, Xianfu Wang, Yuanyuan Liu, Ji-Yun Lee
Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and is a major cause of cancer-related mortality. The combination of genetics, diet, behavior, and environment plays an important role in the carcinogenesis of ESCC. To characterize the genomic aberrations of this disease, we investigated the genomic imbalances in 19 primary ESCC cases using high-resolution array comparative genomic hybridization (CGH). All cases showed either loss or gain of whole chromosomes or segments of chromosome(s) with variable genomic sizes...
2016: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/27869431/-deletion-on-the-short-arm-of-chromosome-18-syndrome-diagnosed-by-array-comparative-genomic-hybridization-presentation-of-one-case-with-a-mild-phenotype
#5
Harry Pachajoa
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27853421/transient-developmental-purkinje-cell-axonal-torpedoes-in-healthy-and-ataxic-mouse-cerebellum
#6
Lovisa Ljungberg, Daneck Lang-Ouellette, Angela Yang, Sriram Jayabal, Sabrina Quilez, Alanna J Watt
Information is carried out of the cerebellar cortical microcircuit via action potentials propagated along Purkinje cell axons. In several human neurodegenerative diseases, focal axonal swellings on Purkinje cells - known as torpedoes - have been associated with Purkinje cell loss. Interestingly, torpedoes are also reported to appear transiently during development in rat cerebellum. The function of Purkinje cell axonal torpedoes in health as well as in disease is poorly understood. We investigated the properties of developmental torpedoes in the postnatal mouse cerebellum of wild-type and transgenic mice...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27847282/mesenchymal-stem-cell-derived-extracellular-vesicles-ameliorate-inflammation-induced-preterm-brain-injury
#7
Karla Drommelschmidt, Meray Serdar, Ivo Bendix, Josephine Herz, Frederik Bertling, Sebastian Prager, Matthias Keller, Anna-Kristin Ludwig, Vikas Duhan, Stefan Radtke, Kyra de Miroschedji, Peter A Horn, Yohan van de Looij, Bernd Giebel, Ursula Felderhoff-Müser
OBJECTIVE: Preterm brain injury is a major cause of disability in later life, and may result in motor, cognitive and behavioural impairment for which no treatment is currently available. The aetiology is considered as multifactorial, and one underlying key player is inflammation leading to white and grey matter injury. Extracellular vesicles secreted by mesenchymal stem/stromal cells (MSC-EVs) have shown therapeutic potential in regenerative medicine. Here, we investigated the effects of MSC-EV treatment on brain microstructure and maturation, inflammatory processes and long-time outcome in a rodent model of inflammation-induced brain injury...
November 12, 2016: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/27817108/effects-of-neonatal-methamphetamine-and-stress-on-brain-monoamines-and-corticosterone-in-preweanling-rats
#8
Sarah A Jablonski, Devon L Graham, Charles V Vorhees, Michael T Williams
Neonatal exposure to methamphetamine (MA) and developmental chronic stress significantly alter neurodevelopmental profiles that show a variety of long-term physiological and behavioral effects. In the current experiment, Sprague-Dawley rats were exposed to one of two housing conditions along with MA. Rats were given 0 (saline), 5, or 7.5 mg/kg MA, four times per day from postnatal day (P)11 to 15 or P11 to 20. Half of the litters were reared in cages with standard bedding and half with no bedding. Separate litters were assessed at P15 or P20 for organ weights (adrenals, spleen, thymus); corticosterone; and monoamine assessments (dopamine, serotonin, norepinephrine) and their metabolites within the neostriatum, hippocampus, and prefrontal cortex...
November 5, 2016: Neurotoxicity Research
https://www.readbyqxmd.com/read/27810361/functional-characterization-of-archaeal-homologs-of-human-nuclear-rnase-p-proteins-rpp21-and-rpp29-provides-insights-into-the-molecular-basis-of-their-cooperativity-in-catalysis
#9
Dan Jiang, Kenta Izumi, Toshifumi Ueda, Kosuke Oshima, Takashi Nakashima, Makoto Kimura
Ribonuclease P (RNase P) is a ribonucleoprotein that catalyzes the processing of 5' leader sequences of precursor tRNAs (pre-tRNA). RNase P proteins PhoRpp21 and PhoRpp29 in the hyperthermophilic archaeon Pyrococcus horikoshii, homologs of human nuclear RNase P proteins Rpp21 and Rpp29 respectively, fold into a heterodimeric structure and synergistically function in the activation of the specificity domain (S-domain) in RNase P RNA (PhopRNA). To elucidate the molecular basis for their cooperativity, we first analyzed binding ability to PhopRNA using a pull-down assay...
October 31, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27808426/venlafaxine-and-oxycodone-have-different-effects-on-spinal-and-supra-spinal-activity-in-man-a-somatosensory-evoked-potential-study
#10
Dina Lelic, Massimiliano Valeriani, Iben W D Fischer, Albert Dahan, Asbjørn M Drewes
INTRODUCTION: Opioids and antidepressants that inhibit serotonin and norepinephrine reuptake (SNRI) are recognized as analgesics to treat severe and moderate pain, but for both of them the mechanisms in humans remain unclear. This study aimed to explore how oxycodone (opioid) and venlafaxine (SNRI) modulate spinal and supraspinal sensory processing. METHODS: Twenty volunteers were included in this randomized, double blinded, three-way (placebo, oxycodone, venlafaxine), cross-over study...
November 3, 2016: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27794475/constitutional-560-49%C3%A2-kb-chromosome-2p24-3-duplication-including-the-mycn-gene-identified-by-snp-chromosome-microarray-analysis-in-a-child-with-multiple-congenital-anomalies-and-bilateral-wilms-tumor
#11
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton
Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27768090/the-preparation-of-oblique-spinal-cord-slices-for-ventral-root-stimulation
#12
Félix Leroy, Boris Lamotte d'Incamps
Electrophysiological recordings from spinal cord slices have proven to be a valuable technique to investigate a wide range of questions, from cellular to network properties. We show how to prepare viable oblique slices of the spinal cord of young mice (P2 - P11). In this preparation, the motoneurons retain their axons coming out from the ventral roots of the spinal cord. Stimulation of these axons elicits back-propagating action potentials invading the motoneuron somas and exciting the motoneuron collaterals within the spinal cord...
October 13, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27751426/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-rec-10-dup-10p-inv-10-p11-2q26-3-in-a-fetus-associated-with-paternal-pericentric-inversion
#13
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27709490/atorvastatin-protects-from-a%C3%AE-1-40-induced-cell-damage-and-depressive-like-behavior-via-probdnf-cleavage
#14
Fabiana K Ludka, Maurício P Cunha, Tharine Dal-Cim, Luisa Bandeira Binder, Leandra C Constantino, Caio M Massari, Wagner C Martins, Ana Lúcia S Rodrigues, Carla I Tasca
Intracerebroventricular (icv) amyloid-beta (Aβ)1-40 infusion to mice has been demonstrated to cause neurotoxicty and depressive-like behavior and it can be used to evaluate antidepressant and neuroprotective effect of drugs. Atorvastatin is a widely used statin that has demonstrated antidepressant-like effect in predictable animal behavioral models and neuroprotective effect against Aβ1-40 infusion. The purpose of this study was to determine the effect of in vivo atorvastatin treatment against Aβ1-40-induced changes in mood-related behaviors and biochemical parameters in ex vivo hippocampal slices from mice...
October 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27698373/identification-of-drought-responsive-micrornas-and-their-targets-in-ammopiptanthus-mongolicus-by-using-high-throughput-sequencing
#15
Fei Gao, Ning Wang, Huayun Li, Jisheng Liu, Chenxi Fu, Zihua Xiao, Chunxiang Wei, Xiaoduo Lu, Jinchao Feng, Yijun Zhou
MicroRNAs (miRNAs) regulate target gene expression to modulate plant growth, development, and biotic and abiotic stress response at the post-transcriptional level. Ammopiptanthus mongolicus, an ecologically important desert plant, is increasingly used as a model for studying stress tolerance in plants. The miRNA-mediated gene regulatory network might remarkably contribute to the high stress tolerance of A. mongolicus. However, a genome-wide identification of miRNAs and their targets is still lacking in A. mongolicus...
October 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27673450/aspl-tfe3-oncoprotein-regulates-cell-cycle-progression-and-induces-cellular-senescence-by-up-regulating-p21
#16
Naoko Ishiguro, Haruhiko Yoshida
Alveolar soft part sarcoma is an extremely rare soft tissue sarcoma with poor prognosis. It is characterized by the unbalanced recurrent chromosomal translocation der(17)t(X;17)(p11;q25), resulting in the generation of an ASPL-TFE3 fusion gene. ASPL-TFE3 oncoprotein functions as an aberrant transcriptional factor and is considered to play a crucial role in the tumorigenesis of alveolar soft part sarcoma. However, the underlying molecular mechanisms are poorly understood. In this study, we identified p21 (p21(WAF1/CIP1)) as a direct transcriptional target of ASPL-TFE3...
October 2016: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/27644460/miller-dieker-syndrome-with-unbalanced-translocation-45-x-psu-dic-17-y-p13-p11-32-detected-by-fluorescence-in-situ-hybridization-and-g-banding-analysis-using-high-resolution-banding-technique
#17
Takashi Mishima, Michiko Watari, Yutaka Iwaki, Takumi Nagai, Miho Kawamata-Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki
Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves which will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker syndrome postnatally. G banded chromosome analysis revelaed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique...
September 20, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27616678/cell-and-region-specific-expression-of-depression-related-protein-p11-s100a10-in-the-brain
#18
Ana Milosevic, Thomas Liebmann, Margarete Knudsen, Nicoletta Schintu, Per Svenningsson, Paul Greengard
P11 (S100a10), a member of the S100 family of proteins, has widespread distribution in the vertebrate body, including in the brain, where it has a key role in membrane trafficking, vesicle secretion and endocytosis. Recently, our laboratory has shown that a constitutive knockout of p11 (p11 KO) in mice results in a depressive-like phenotype. Furthermore, p11 has been implicated in major depressive disorder (MDD) and in the actions of antidepressants. Since depression affects multiple brain regions, and the role of p11 has only been determined in a few of these areas, a detailed analysis of p11 expression in the brain is warranted...
September 12, 2016: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/27605428/unusual-x-chromosome-inactivation-pattern-in-patients-with-xp11-23-p11-22-duplication-report-and-review
#19
Adriana Di-Battista, Vera Ayres Meloni, Magnus Dias da Silva, Mariana Moysés-Oliveira, Maria Isabel Melaragno
In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance are preferentially selected, frequently resulting in a skewed inactivation pattern and amelioration of the phenotype. The Xp11.23-p11.22 region is involved in a recently described microduplication syndrome associated with severe clinical consequences in males and females, causing intellectual disability, behavior problems, epilepsy with electroencephalogram anomalies, minor facial anomalies, and early onset of puberty...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27589698/gene-expression-related-to-serotonergic-and-glutamatergic-neurotransmission-is-altered-in-the-flinders-sensitive-line-rat-model-of-depression-effect-of-ketamine
#20
Kristian Gaarn Du Jardin, Heidi Kaastrup Müller, Connie Sanchez, Gregers Wegener, Betina Elfving
Major depressive disorder (MDD) is associated with dysfunctional serotonergic and glutamatergic neurotransmission, and the genetic animal model of depression Flinders Sensitive Line (FSL) rats display alterations in these systems relatively to their control strain Flinders Resistant Line (FRL). However, changes on transcript level related to serotonergic and glutamatergic signaling have only been sparsely studied in this model. The non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist ketamine has fast-onset antidepressant properties, and recent data implicate serotonergic neurotransmission in ketamine's antidepressant-like activities in rodents...
September 2, 2016: Synapse
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