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https://www.readbyqxmd.com/read/28105725/antifungal-peptides-a-potential-new-class-of-antifungals-for-treating-vulvovaginal-candidiasis-caused-by-fluconazole-resistant-candida-albicans
#1
Siew Mei Samantha Ng, Yi Yong Alvin Yap, Jin Wei Darryl Cheong, Fui Mee Ng, Qiu Ying Lau, Timothy Barkham, Jeanette Woon Pei Teo, Jeffrey Hill, Cheng San Brian Chia
Vulvovaginal candidiasis/candidosis is a common fungal infection afflicting approximately 75% of women globally caused primarily by the yeast Candida albicans. Fluconazole is widely regarded as the antifungal drug of choice since its introduction in 1990 due to its high oral bioavailability, convenient dosing regimen and favourable safety profile. However, its widespread use has led to the emergence of fluconazole-resistant C. albicans, posing a universal clinical concern. Coupled to the dearth of new antifungal drugs entering the market, it is imperative to introduce new drug classes to counter this threat...
January 19, 2017: Journal of Peptide Science: An Official Publication of the European Peptide Society
https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#2
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
January 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28097792/fish-identifies-a-kat6a-crebbp-fusion-caused-by-a-cryptic-insertional-t-8-16-in-a-case-of-spontaneously-remitting-congenital-acute-myeloid-leukemia-with-a-normal-karyotype
#3
Rachel Barrett, Barbara Morash, David Roback, Chantale Pambrun, Lesley Marfleet, Rhett P Ketterling, Karen Harrison, Jason N Berman
Cytogenetics can inform risk stratification in pediatric acute myeloid leukemia (AML). We describe the first case of a newborn with leukemia cutis found to have AML harboring a cryptic insertional t(8;16)(p11.2;p13.3) with associated KAT6A/CREBBP fusion identified exclusively by fluorescence in situ hybridization (FISH). Expectant management resulted in spontaneous leukemia resolution. The identification of t(8;16)(p11.2;p13.3) may serve as a biomarker for spontaneous remission in congenital AML. FISH for this translocation is warranted in congenital AML with a normal karyotype, and patients with KAT6A/CREBBP fusion should be conservatively managed...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28076682/effect-of-maternal-%C3%A2-citalopram-exposure-on-p11-expression-and-neurogenesis-in-the-mouse-fetal-brain
#4
Jennifer R King, Juan C Velasquez, Masaaki Torii, Alexandre Bonnin
Fetal exposure to selective serotonin reuptake inhibitors (SSRI) has been associated with increased risk of adverse neurodevelopmental outcomes. In the adult brain, SSRI therapy regulates p11 (s100a10) expression and alters neurogenesis. The protein p11 indirectly regulates 5-HT signaling through 5-HT1B/D receptors. In the fetal brain, signaling through these receptors modulates axonal circuit formation. We determined whether p11 is expressed in the fetal mouse brain, and whether maternal SSRI exposure affects fetal p11 expression and neurogenesis...
January 13, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#5
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
January 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28064285/unusual-duplication-in-the-pericentromeric-region-of-chromosome-9-in-a-patient-with-phenotypic-alterations
#6
Andréa C M Malinverni, Mileny E Colovati, Ana B A Perez, Thamy P Caneloi, Hélio R Oliveira, Nadezda Kosyakova, Thomas Liehr, Ahmed B Hamid, Maria I Melaragno
Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9...
January 7, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28052551/remineralization-of-natural-early-caries-lesions-in-vitro-by-p11-4-monitored-with-photothermal-radiometry-and-luminescence
#7
Joshua D Silvertown, Bonny P Y Wong, Koneswaran S Sivagurunathan, Stephen H Abrams, Jennifer Kirkham, Bennett T Amaechi
AIM: The efficacy of self-assembling peptide P11 -4 to regenerate enamel in natural early caries lesions was evaluated over 50 days by photothermal radiometry and luminescence using The Canary System (CS) and The Canary Lab (CL). METHODS: Baseline readings for sound and carious sites on smooth surfaces of extracted teeth were obtained by scanning with CS and CL. Teeth were then randomly assigned to a treatment group (TG, treated with P11 -4), a placebo group (PG, same vehicle as treatment group without P11 -4), or a control group (CG, no treatment)...
January 4, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28049552/antiproliferative-cyclodepsipeptides-from-the-marine-actinomycete-streptomyces-sp-p11-23b-downregulating-the-tumor-metabolic-enzymes-of-glycolysis-glutaminolysis-and-lipogenesis
#8
Xuewei Ye, Komal Anjum, Tengfei Song, Wenling Wang, Ying Liang, Mengxuan Chen, Haocai Huang, Xiao-Yuan Lian, Zhizhen Zhang
Two cyclodepsipeptides and a known cyclodepsipeptide valinomycin were isolated from a culture of the marine actinomycete Streptomyces sp. P11-23B. Their structures were established based on NMR, HRESIMS, and MS-MS spectroscopic interpretation as well as by chemical degradation. Both streptodepsipeptides P11A and P11B inhibited proliferation of different glioma cell lines, with IC50 values ranging from 0.1 μM to 1.4 μM. Streptodepsipeptide P11A was found to block the cell cycle at the G0/G1 phase and induce apoptosis in glioma cells...
December 31, 2016: Phytochemistry
https://www.readbyqxmd.com/read/28040133/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p11-22%C3%A2-q11-21-in-an-18-year-old-female-with-short-stature-obesity-attention-deficit-hyperactivity-disorder-and-intellectual-disability
#9
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28028120/ccnd1-igh-fusion-amplification-and-myc-copy-number-gain-in-a-case-of-pleomorphic-variant-mantle-cell-lymphoma
#10
Yuan Miao, Pei Lin, Wei Wang, L Jeffrey Medeiros, Xinyan Lu
OBJECTIVES: Mantle cell lymphoma (MCL) may present de novo or undergo progression to a clinically aggressive variant, known as a blastoid or pleomorphic variant. We report an unusual case of classic MCL in a 78-year-old man with a typical immunophenotype, including CD5 positivity, who subsequently relapsed with CD5-negative pleomorphic variant MCL. METHODS: Biopsy specimens were evaluated using Wright-Giemsa-stained or H&E-stained sections, flow cytometry, immunohistochemistry, conventional cytogenetic, next-generation sequencing, and fluorescence in situ hybridization...
December 27, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27918823/short-term-alteration-of-developmental-neural-activity-enhances-neurite-outgrowth-of-retinal-explants
#11
Meng-Jung Lee, Chuan-Chin Chiao
Purpose: It is well known that the gradual loss of axon growth ability of retinal ganglion cells (RGCs) during development is largely determined by extrinsic signals rather than being programmed intrinsically. Spontaneous retinal waves are the major neural activity during retinal development. Thus restoring the developmental environment by providing the proper neural activity may be able to help axon regeneration of RGCs. Methods: Retinal explants from P5 and P11 C57BL/6 mice were treated pharmacologically or stimulated electrically, and cultured with or without brain-derived neurotrophic factor (BDNF) on coverslips or a multielectrode array for 5 days to examine the neurite outgrowth capacity of RGCs...
December 1, 2016: Investigative Ophthalmology & Visual Science
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
#12
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
#13
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
#14
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...
January 2017: 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
#15
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
#16
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
#17
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
#18
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...
February 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/27817108/effects-of-neonatal-methamphetamine-and-stress-on-brain-monoamines-and-corticosterone-in-preweanling-rats
#19
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
#20
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...
January 1, 2017: Biochemical and Biophysical Research Communications
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