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https://www.readbyqxmd.com/read/28507317/elevation-of-p11-in-lateral-habenula-mediates-depression-like-behavior
#1
J-S Seo, P Zhong, A Liu, Z Yan, P Greengard
The lateral habenula (LHb) is a key brain region involved in the pathophysiology of depression. It is activated by stimuli associated with negative experiences and is involved in encoding aversive signals. Hyperactivity of LHb is found in both rodent models of depression and human patients with depression. However, little is known about the underlying molecular mechanisms. Here we show that in LHb neurons, p11, a multifunctional protein implicated in depression, is significantly upregulated by chronic restraint stress...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#2
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28485819/an-open-circuit-voltage-and-power-conversion-efficiency-study-of-fullerene-ternary-organic-solar-cells-based-on-oligomer-oligomer-and-oligomer-polymer
#3
Guichuan Zhang, Cheng Zhou, Chen Sun, Xiaoe Jia, Baomin Xu, Lei Ying, Fei Huang, Yong Cao
Variations in the open-circuit voltage (Voc ) of ternary organic solar cells are systematically investigated. The initial study of these devices consists of two electron-donating oligomers, S2 (two units) and S7 (seven units), and the electron-accepting [6,6]-phenyl C71 butyric acid methyl ester (PC71 BM) and reveals that the Voc is continuously tunable due to the changing energy of the charge transfer state (Ect ) of the active layers. Further investigation suggests that Voc is also continuously tunable upon change in Ect in a ternary blend system that consists of S2 and its corresponding polymer (P11):PC71 BM...
May 9, 2017: Macromolecular Rapid Communications
https://www.readbyqxmd.com/read/28452030/the-effects-and-the-toxicity-increases-caused-by-bicarbonate-chloride-and-other-water-components-during-the-uv-tio2-degradation-of-oxazaphosphorine-drugs
#4
Webber Wei-Po Lai, Ying-Chih Chuang, Angela Yu-Chen Lin
The influences of HCO3(-), Cl(-), and other components on the UV/TiO2 degradation of the antineoplastic agents ifosfamide (IFO) and cyclophosphamide (CP) were studied in this work. The results indicated that the presence of HCO3(-), Cl(-), NO3(-), and SO4(2-) in water bodies resulted in lower degradation efficiencies. The half-lives of IFO and CP were 1.2 and 1.1 min and increased 2.3-7.3 and 3.2-6.3 times, respectively, in the presence of the four anions (initial compound concentration = 100 μg/L, TiO2 loading =100 mg/L, anion concentration = 1000 mg/L, and pH = 8)...
April 27, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28418072/myb-gata1-fusion-promotes-basophilic-leukaemia-involvement-of-il33-and-nerve-growth-factor-receptors
#5
Stéphane Ducassou, Valérie Prouzet-Mauléon, Marie-Céline Deau, Philippe Brunet de la Grange, Bruno Cardinaud, Hayssam Soueidan, Cathy Quelen, Pierre Brousset, Jean-Max Pasquet, François Moreau-Gaudry, Michel Arock, François-Xavier Mahon, Eric Lippert
Acute basophilic leukaemia (ABL) is a rare subtype of acute myeloblastic leukaemia. We previously described a recurrent t(X;6)(p11;q23) translocation generating a MYB-GATA1 fusion gene in male infants with ABL. To better understand its role, the chimeric MYB-GATA1 transcription factor was expressed in CD34-positive hematopoietic progenitors which were transplanted into immunodeficient mice. Cells expressing MYB-GATA1 showed increased expression of markers of immaturity (CD34), of granulocytic lineage (CD33, CD117) and of basophilic differentiation (CD203c, FcƐRI)...
April 18, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#6
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28412607/effect-of-early-postnatal-exposure-to-valproate-on-neurobehavioral-development-and-regional-bdnf-expression-in-two-strains-of-mice
#7
Kevin G Bath, Tiare Pimentel
Valproate has been used for over 30years as a first-line treatment for epilepsy. In recent years, prenatal exposure to valproate has been associated with teratogenic effects, limiting its use in women that are pregnant or of childbearing age. However, despite its potential detrimental effects on development, valproate continues to be prescribed at high rates in pediatric populations in some countries. Animal models allow us to test hypotheses regarding the potential effects of postnatal valproate exposure on neurobehavioral development, as well as identify potential mechanisms mediating observed effects...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28401463/crop-specific-plant-growth-promoting-effects-of-accd-enzyme-and-siderophore-producing-and-cynogenic-fluorescent-pseudomonas
#8
Priyanka, Toshy Agrawal, Anil S Kotasthane, Ashok Kosharia, Renu Kushwah, Najam Waris Zaidi, U S Singh
Fluorescent Pseudomonas, aerobic, Gram-negative bacteria possess many traits that make them well suited as biocontrol and growth promoting agents. Our study revealed that isolates vary in mechanisms involved in the antagonist interactions against pathogen and growth stimulatory effects on host plant. Most of the potential antagonistic fluorescent Pseudomonas identified were avid iron chelators (P233, P201, 176, P76 and, P76). Wide variation in ACCd enzyme production was observed. ACCd enzyme assay tested P141 > P247 > P126, as potential ACCd enzyme producer...
May 2017: 3 Biotech
https://www.readbyqxmd.com/read/28346861/biomimetic-remineralization-of-carious-lesions-by-self-assembling-peptide
#9
L Kind, S Stevanovic, S Wuttig, S Wimberger, J Hofer, B Müller, U Pieles
Caries is the most common disease in the world. Great efforts have been undertaken for prevention and to identify a regenerative treatment solution for dental caries. Self-assembling β-sheet forming peptides have previously shown to form 3-dimensional fiber networks supporting tissue regeneration. In particular, the self-assembling peptide P11-4 has shown potential in the treatment and prevention of dental caries. It has previously been shown that application of monomeric P11-4 solution to early carious lesions can increase net mineral gain by forming de novo hydroxyapatite crystals...
March 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28287095/aboriginal-australian-mitochondrial-genome-variation-an-increased-understanding-of-population-antiquity-and-diversity
#10
Nano Nagle, Mannis van Oven, Stephen Wilcox, Sheila van Holst Pellekaan, Chris Tyler-Smith, Yali Xue, Kaye N Ballantyne, Leah Wilcox, Luka Papac, Karen Cooke, Roland A H van Oorschot, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians...
March 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28278700/clinical-histopathological-and-molecular-features-of-mucosa-associated-lymphoid-tissue-malt-lymphoma-carrying-the-t-x-14-p11-q32-gpr34-immunoglobulin-heavy-chain-gene
#11
Takashi Akasaka, Yin-Fai Lee, Anne J Novak, Gen Honjo, Kayo Takeoka, Fumiyo Maekawa, Katsuhiro Fukutsuka, Masahiko Hayashida, Hitoshi Ohno
No abstract text is available yet for this article.
February 28, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28264646/strain-dependent-mutational-effects-for-pepino-mosaic-virus-in-a-natural-host
#12
Julia Minicka, Santiago F Elena, Natasza Borodynko-Filas, Błażej Rubiś, Beata Hasiów-Jaroszewska
BACKGROUND: Pepino mosaic virus (PepMV) is an emerging plant pathogen that infects tomatoes worldwide. Understanding the factors that influence its evolutionary success is essential for developing new control strategies that may be more robust against the evolution of new viral strains. One of these evolutionary factors is the distribution of mutational fitness effect (DMFE), that is, the fraction of mutations that are lethal, deleterious, neutral, and beneficial on a given viral strain and host species...
March 6, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28250917/an-intragenic-deletion-within-ctnna2-intron-7-in-a-boy-with-short-stature-and-speech-delay-a-case-report
#13
Valeria Paganelli, Mara Giordano, Cristina Meazza, Lucia Schena, Mauro Bozzola
BACKGROUND/OBJECTIVES: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. RESULTS: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28222720/birt-hogg-dub%C3%A3-syndrome-a-literature-review-and-case-study-of-a-chinese-woman-presenting-a-novel-flcn-mutation
#14
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking...
February 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28208880/balanced-autosomal-translocations-in-two-women-reporting-recurrent-miscarriage
#15
Brindha Arumugam, Chandra R Samuel, Santhiya Sathiyavedu Thyagarajan
Spontaneous abortion or loss of fetus prior to 20 weeks of gestation is observed in 15-20% of clinically recognized pregnancies. Recurrent Miscarriage (RM) is defined as three or more consecutive pregnancy losses and it affects 1-2% of women. Parental chromosomal rearrangements account for 2-5% of RM. This report describes two couples with a clinical history of RM who were subjected to conventional cytogenetic analysis to ascertain the chromosomal aetiology. Analysis of GTG-banded metaphases obtained from cultured lymphocytes at approximately 500-band resolution revealed balanced translocation in the female spouses as 46,XX,t(8;11)(p11...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28183811/annexin-ii-binding-immunoglobulins-in-patients-with-lupus-nephritis-and-their-correlation-with-disease-manifestations
#16
Kwok Fan Cheung, Susan Yung, Mel Km Chau, Desmond Yh Yap, Kwok Wah Chan, Cheuk Kwong Lee, Colin So Tang, Tak Mao Chan
Annexin II on mesangial cell surface mediates the binding of anti-dsDNA antibodies and consequent downstream inflammatory and fibrotic processes. We investigated the clinical relevance of circulating annexin II-binding immunoglobulins in patients with severe proliferative lupus nephritis, and renal annexin II expression in relation to progression of nephritis in NZBWF1/J mice. Annexin II-binding immunoglobulins in serum were measured by ELISA. Ultrastructural localization of annexin II was determined by electron microscopy...
February 9, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28138694/activity-of-fibroblast-growth-factor-receptor-inhibitors-tki258-ponatinib-and-azd4547-against-tpr%C3%A2-fgfr1-fusion
#17
Xu-Hua Qiu, Feng Li, Hong-Qin Cao, Jing-Jing Shao, Jian-Gang Mei, Han-Qing Li, Yong-Ping Zhai
8p11 myeloproliferative syndrome (EMS) is a rare disease characterized by the constitutive activation of fibroblast growth factor receptor 1 (FGFR1). To date, four cases of EMS with the chromosomal translocation, t(1;8)(q25;p11.2), have been reported. In the present study, TPR‑FGFR1‑expressing Baf3 cells were established and confirmed by polymerase chain reaction. To identify the most promising drug for EMS, the activities and associated mechanism of three tyrosine kinase inhibitors (TKIs), TKI258, ponatinib and AZD4547, against TPR‑FGFR1 were tested by MTT assay, flow cytometry and western blot...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28137881/alterations-of-p11-in-brain-tissue-and-peripheral-blood-leukocytes-in-parkinson-s-disease
#18
Holly Green, Xiaoqun Zhang, Katarina Tiklova, Nikolaos Volakakis, Lovisa Brodin, Louise Berg, Paul Greengard, Thomas Perlmann, Per Svenningsson
Individuals with Parkinson's disease (PD) often suffer from comorbid depression. P11 (S100A10), a member of the S100 family of proteins, is expressed widely throughout the body and is involved in major depressive disorder and antidepressant response. Central p11 levels are reduced in postmortem tissue from depressed individuals; however, p11 has not yet been investigated in PD patients with depression or those without depression. We investigated p11 levels in postmortem PD brains and assessed whether peripheral p11 levels correlate with disease severity...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28134577/primary-intraprostatic-synovial-sarcoma
#19
REVIEW
Andrea M Olofson, Konstantinos Linos
Primary intraprostatic synovial sarcoma is a rare presentation of an otherwise well-studied disease, and it is one of the few primary sarcomas to occur in the prostate. Ancillary diagnostic techniques including immunohistochemistry and molecular genetics are useful to establish a definitive diagnosis. Despite its unorthodox location, it shares histologic and molecular genetic characteristics with tumors found elsewhere in the body. Most notably, the chromosomal translocation t(X;18)(p11;q11) encodes a chimeric transcription-activating protein, SS18-SSX, which has been identified as the primary driver mutation...
February 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28132860/mantle-cell-lymphoma-with-a-novel-t-11-12-q13-p11-2-a-proposed-alternative-mechanism-of-ccnd1-upregulation
#20
Joshua R Menke, George Vasmatzis, Stephen Murphy, Lin Yang, David M Menke, Han W Tun, Rebecca L King, Stephanie A Smoley, Rhett P Ketterling, William R Sukov
Mantle cell lymphoma (MCL) is typically characterized by t(11;14) which places the IGH@ enhancer elements upstream of CCND1. This fusion results in upregulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3' untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11...
January 26, 2017: Human Pathology
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