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https://www.readbyqxmd.com/read/29283216/a-lipidomics-approach-to-identifying-key-lipid-species-involved-in-vegf-inhibitor-mediated-attenuation-of-bleomycin-induced-pulmonary-fibrosis
#1
Yogesh M Kulkarni, Sucharita Dutta, Anand Krishnan V Iyer, Clayton A Wright, Vani Ramesh, Vivek Kaushik, Oliver John Semmes, Neelam Azad
PURPOSE: Poor molecular characterization of idiopathic pulmonary fibrosis (IPF) has led to insufficient understanding of the pathogenesis of the disease, resulting in lack of effective therapies and poor prognosis. Particularly, the role of lipid imbalance due to impaired lipid metabolism in the pathogenesis of IPF has been poorly studied. EXPERIMENTAL DESIGN: We have used shotgun lipidomics in a bleomycin (BLM) mouse model of pulmonary fibrosis with vascular endothelial growth factor (VEGF)-inhibitor CBO-P11 as a therapeutic measure, to identify a comprehensive set of lipids that contribute to the pathogenesis of pulmonary fibrosis...
December 28, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/29275929/endometrial-stromal-sarcomas-and-related-neoplasms-new-developments-and-diagnostic-considerations
#2
REVIEW
Lien Hoang, Sarah Chiang, Cheng-Han Lee
Our understanding of endometrial stromal sarcomas has evolved dramatically since their earliest descriptions from over a century ago. Initial studies focused on establishing the relationship between histological appearances of endometrial stromal sarcomas and their clinical outcomes. Studies performed in the last decade have uncovered several recurrent cytogenetic aberrations occurring in low- and high-grade endometrial stromal sarcomas. Low-grade endometrial stromal sarcomas bear close histopathological resemblance to proliferative-type endometrial stroma, and approximately half harbour t(7;17)(p15;q21) resulting in JAZF1-SUZ12 gene fusion...
December 21, 2017: Pathology
https://www.readbyqxmd.com/read/29225830/acute-basophilic-leukemia-associated-with-the-t-16-21-p11-q22-fus-erg-fusion-gene
#3
Yusuke Toda, Yuya Nagai, Daiki Shimomura, Chiyuki Kishimori, Katsuyo Tsuda, Katsuhiro Fukutsuka, Masahiko Hayashida, Hitoshi Ohno
We herein report a rare case of acute basophilic leukemia with t(16;21)(p11;q22) generating the FUS-ERG fusion gene. The basophilic nature of leukemia blasts was demonstrated by cytomorphology, toluidine blue metachromasia, mature basophil-associated antigen expression, and characteristic granules under electron microscopy. The molecular link between t(16;21)/FUS-ERG and basophilic differentiation remains unclear.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29217666/epac1-regulates-endothelial-annexin-a2-cell-surface-translocation-and-plasminogen-activation
#4
Wenli Yang, Fang C Mei, Xiaodong Cheng
Annexins, a family of highly conserved calcium- and phospholipid-binding proteins, play important roles in a wide range of physiologic functions. Among the 12 known annexins in humans, annexin A2 (AnxA2) is one of the most extensively studied and has been implicated in various human diseases. AnxA2 can exist as a monomer or a heterotetrameric complex with S100A10 (P11) and plays a critical role in many cellular processes, including exocytosis, endocytosis, and membrane organization. At the endothelial cell surface, the (AnxA2·P11)2 tetramer-acting as a coreceptor for plasminogen and tissue plasminogen activator (tPA)-accelerates tPA-dependent activation of the fibrinolytic protease, plasmin, the enzyme that is responsible for thrombus dissolution and the degradation of fibrin...
December 7, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29196444/temporal-analysis-of-hippocampal-ca3-gene-co-expression-networks-in-a-rat-model-of-febrile-seizures
#5
Hatylas Azevedo, Nathália Amato Khaled, Paula Santos, Fernanda Bernardi Bertonha, Carlos Alberto Moreira-Filho
Complex febrile seizures during infancy constitute an important risk factor for epilepsy development. However, little is known about the alterations induced by febrile seizures that may turn the brain susceptible to epileptic activity. In this context, the use of animal models of hyperthermic seizures (HS) could allow the temporal analysis of brain molecular changes that arise after febrile seizures. Here, we investigated temporal changes in hippocampal gene co-expression networks during the development of rats submitted to HS...
November 30, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29187016/adolescent-female-with-turner-s-syndrome-and-46-x-der-y-del-y-p11-2-del-q11-2-karyotype-with-gonadoblastoma-and-dysgerminoma
#6
Barenya Mukerji, Eli Balshan, Robert Haderer, Wendy Shertz, Robert Graebe
Gonadal dysgenesis patients with Y chromosomal material are subject to increased risk for germ cell tumors. We report a case of an adolescent female presenting with Turner-like syndrome with primary amenorrhea and Tanner stage 1 breast development. Karyotype showed one X chromosome and a minute pericentromeric fragment of Y chromosome without any functional Y genes in all the cells, unlike a mosaic pattern, represented as 46,X,der(Y)del(Y)(p11.2)del(q11.2). Laparoscopic bilateral gonadectomy was performed due to presence of Y chromosome material and histopathology confirmed gonadoblastoma with a focus of dysgerminoma of the right ovary...
November 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29181103/myxoid-liposarcoma-with-cartilaginous-differentiation-showing-ddit3-rearrangement
#7
Kayo Suzuki, Taketoshi Yasuda, Kenta Watanabe, Takeshi Hori, Masahiko Kanamori, Tomoatsu Kimura
Myxoid liposarcoma (MLPS) is the second most common histologic subtype of liposarcoma. However, cartilaginous differentiation within MLPS is an extremely rare phenomenon, with only 7 cases of MLPS with cartilaginous differentiation reported to date. The majority of MLPS cases show the t(12;16)(q13;p11) translocation, resulting in the fused in sarcoma-DNA damage-inducible transcript 3 (FUS-DDIT3) fusion gene. This fusion gene as a hallmark of MLPS is very useful for differential diagnosis from other soft tissue sarcomas, and the associated protein, FUS-DDIT3, performs an important role in the phenotypic selection of targeted multipotent mesenchymal cells during oncogenesis...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29142771/a-peruvian-child-with-18p-18q-syndrome-and-persistent-microscopic-hematuria
#8
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29119847/myeloid-lymphoid-neoplasms-with-fgfr1-rearrangement
#9
Paolo Strati, Guilin Tang, Dzifa Y Duose, Saradhi Mallampati, Rajyalakshmi Luthra, Keyur P Patel, Mohammad Hussaini, Abu-Sayeef Mirza, Rami S Komrokji, Stephen Oh, John Mascarenhas, Vesna Najfeld, Vivek Subbiah, Hagop Kantarjian, Guillermo Garcia-Manero, Srdan Verstovsek, Naval Daver
Myeloid/lymphoid neoplasms with FGFR1 rearrangement are a rare entity. We present a multicenter experience of 17 patients with FISH-confirmed FGFR1 rearrangement. The clinical presentation at diagnosis included myeloproliferative neoplasm (MPN) in 4 (24%) patients, acute leukemia (AL) in 7 (41%), and concomitant MPN with AL in 6 (35%). The two most frequently observed cytogenetic abnormalities were t(8;13)(p11.2;q12)(partner gene ZMYM2) and t(8;22)(p11.2; q11.2)(BCR). Seventy-eight percent of tested patients had a RUNX1 mutation, of whom all had AL...
November 9, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29110683/array-comparative-genomic-hybridization-of-18-pancreatic-ductal-adenocarcinomas-and-their-autologous-metastases
#10
Valentin Rausch, Andreas Krieg, Jordi Camps, Bianca Behrens, Manfred Beier, Darawalee Wangsa, Kerstin Heselmeyer-Haddad, Stephan E Baldus, Wolfram T Knoefel, Thomas Ried, Nikolas H Stoecklein
BACKGROUND: Mortality rates of pancreatic cancer remain high, which is mainly due to advanced disease and metastasis. We hypothesized that genomic copy number alterations are enriched in metastatic cells compared to autologous primary tumors, which may inform on cancer-related pathways possibly serving as potential targets for specific therapies. We investigated 18 pancreatic ductal adenocarcinomas, including 39 lymph node and 5 distant metastases after surgical resection. Analysis was performed with array-based comparative genomic hybridization (aCGH)...
November 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29107667/fgfr1-translocation-with-concurrent-myeloproliferative-neoplasm-systemic-mastocytosis-and-lymphoblastic-lymphoma-a-case-report
#11
Koping Chang, Jia-Hau Liu, Shan-Chi Yu, Chung-Wu Lin
FGFR1 translocation may cause myeloid or lymphoid neoplasm but rarely systemic mastocytosis (SM). Conversely, SM is associated with myeloproliferative neoplasm (MPN), but rarely lymphoblastic lymphoma (LBL) or FGFR1 translocation. We report the first case of FGFR1 translocation in a patient with concurrent LBL, MPN, and SM. A 21-year-old male patient presented with diffuse lymphadenopathies and leukocytosis. TdT(+)/cytoCD3(+)/CD79a(weakly+) LBL was identified in the lymph node. Bone marrow had MPN, SM, and TdT(+)/CD79a(+)/cytoCD3(weakly+) LBL...
October 28, 2017: Human Pathology
https://www.readbyqxmd.com/read/29090019/molecular-characterization-and-evaluation-of-complex-rearrangements-in-a-case-of-ring-chromosome-15
#12
Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B H Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
BACKGROUND: Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material. CASE PRESENTATION: The proband, a 2 months old boy, presented with small head size and facial dysmorphism...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29079105/immunization-against-full-length-protein-and-peptides-from-the-lutzomyia-longipalpis-sand-fly-salivary-component-maxadilan-protects-against-leishmania-major-infection-in-a-murine-model
#13
William H Wheat, Erik N Arthun, John S Spencer, Daniel P Regan, Richard G Titus, Steven W Dow
Leishmaniasis is an arthropod vectored disease causing considerable human morbidity and mortality. Vaccination remains the most realistic and practical means to interrupt the growing number and diversity of sand fly vectors and reservoirs of Leishmania. Since transmission of Leishmania is achieved exclusively by sand fly vectors via immune-modulating salivary substances, conventional vaccination requiring an unmodified host immune response for success are potentially destined to fail unless immunomodulatory factors are somehow neutralized...
October 24, 2017: Vaccine
https://www.readbyqxmd.com/read/29050026/new-preventive-approaches-part-i-functional-peptides-and-other-therapies-to-prevent-tooth-demineralization
#14
Marília Afonso Rabelo Buzalaf, Juliano Pelim Pessan
The limited effect of fluoride on root caries has prompted the study of new preventive therapies, which involve recently developed functional peptides, lasers, phosphate-based technologies, among several other approaches. Most of the specific peptides currently investigated have been developed based on the available information related to the protective action of salivary proteins, including statherin-derived peptides. Other peptides include 8DSS, self-assembling peptide P11-4, antimicrobial peptides, and casein phosphopeptides combined with amorphous calcium phosphate...
2017: Monographs in Oral Science
https://www.readbyqxmd.com/read/29046314/respiratory-dysfunction-following-neonatal-sustained-hypoxia-exposure-during-a-critical-window-of-brainstem-extracellular-matrix-formation
#15
Christopher Stryker, Dominic W Camperchioli, Catherine A Mayer, Warren J Alilain, Richard John Martin, Peter M MacFarlane
The extracellular matrix (ECM) modulates brain maturation and plays a major role in regulating neuronal plasticity during critical periods of development. We examined: 1) whether there is a critical postnatal period of ECM expression in brainstem cardio-respiratory control regions; and 2) if the attenuated hypoxic ventilatory response (HVR) following neonatal sustained (5 days) hypoxia exposure (SH, 11% O2, 24hrs/day) is associated with altered ECM formation. The nucleus tractus solitarius (nTS), dorsal motor nucleus of the vagus (DMNV), the hypoglossal motor nucleus (XII), the cuneate nucleus (CN) and area postrema (AP) were immunofluorescently processed for aggrecan and Wisteria floribunda (WFA) agglutinin, a key proteoglycan of the ECM and the perineuronal net...
October 18, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29028593/genetic-variations-in-the-p11-tpa-bdnf-pathway-are-associated-with-post-stroke-depression
#16
Jinfeng Liang, Yingying Yue, Haitang Jiang, Deqin Geng, Jun Wang, Jianxin Lu, Shenghua Li, Kezhong Zhang, Aiqin Wu, Yonggui Yuan
BACKGROUND: The effects of BDNF on post stroke depression (PSD) may be influenced by genetic variations in intracellular signal transduction pathways, such as the p11/tPA/BDNF pathway. In this study, we aimed to determine the association of polymorphisms in candidate genes of the gene transduction pathway with PSD, as well as the effects of the interactions between genes in our Chinese sample. METHODS: Two-hundred-fifty-four Chinese samples with acute ischaemic stroke included 122 PSD patients and 132 nonPSD patients...
September 29, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29026552/the-discussion-of-t-1-17-p11-q21-translocation-in-acute-promyelocytic-leukemia-patient-on-molecular-remission
#17
Yannan Jia, Chengwen Li, Jiawei Zhao, Yang Song, Juan Wang, Yingchang Mi
Some chromosomal aberrations emerging in the course of treatment are probably not related to disease progression, but attribute to the germline alteration. Therefore, the dynamic genetic tests should be performed during the whole treatment process, which is significantly essential for efficacy evaluation and treatment decision- making.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28984304/clinicopathological-and-genomic-analysis-of-double-hit-follicular-lymphoma-comparison-with-high-grade-b-cell-lymphoma-with-myc-and-bcl2-and-or-bcl6-rearrangements
#18
Masashi Miyaoka, Yara Y Kikuti, Joaquim Carreras, Haruka Ikoma, Shinichiro Hiraiwa, Akifumi Ichiki, Minoru Kojima, Kiyoshi Ando, Tomoyuki Yokose, Rika Sakai, Masahiro Hoshikawa, Naoto Tomita, Ikuo Miura, Katsuyoshi Takata, Tadashi Yoshino, Jun Takizawa, Silvia Bea, Elias Campo, Naoya Nakamura
Most high-grade B-cell lymphomas with MYC and BCL2 and/or BCL6 rearrangements are aggressive B-cell lymphomas. Occasional double-hit follicular lymphomas have been described but the clinicopathological features of these tumors are not well known. To clarify the characteristics of double-hit follicular lymphomas, we analyzed 10 cases of double-hit follicular lymphomas and 15 cases of high-grade B-cell lymphomas with MYC and BCL2 and/or BCL6 rearrangements for clinicopathological and genome-wide copy-number alterations and copy-neutral loss-of-heterozygosity profiles...
October 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28965243/prediction-of-a-rare-chromosomal-aberration-simultaneously-with-next-generation-sequencing-based-comprehensive-chromosome-screening-in-human-preimplantation-embryos-for-recurrent-pregnancy-loss
#19
Yi-Xuan Lee, Chien-Wen Chen, Yi-Hui Lin, Chii-Ruey Tzeng, Chi-Huang Chen
Preimplantation genetic testing has been used widely in recent years as a part of assisted reproductive technology (ART) owing to the breakthrough development of deoxyribonucleic acid (DNA) sequencing. With the advancement of technology and increased resolution of next generation sequencing (NGS), extensive comprehensive chromosome screening along with small clinically significant deletions and duplications can possibly be performed simultaneously. Here, we present a case of rare chromosomal aberrations: 46,XY,dup(15)(q11...
September 30, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28962207/whole-brain-ct-perfusion-imaging-using-increased-sampling-intervals-a-pilot-study
#20
Guoquan Cao, Weijian Chen, Houzhang Sun, Xianzhong Guo, Yunjun Yang, Kun Tang, Jinjin Liu
The aim of the present study was to investigate the feasibility of whole-brain perfusion imaging using the increased sampling interval protocol for 320-detector row dynamic-volume computed tomography (CT). A total of 12 volunteers were recruited. The novel protocols with 11 volumes (defined as protocol P11) and 15 volumes (defined as protocol P15) were performed on the volunteers to evaluate whether P11 and P15 are able to acquire comparable results to the standard protocol with 19 volumes (defined as protocol P19) according to the as-low-as-reasonably-achievable principle...
September 2017: Experimental and Therapeutic Medicine
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