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https://www.readbyqxmd.com/read/28552732/integrating-genome-wide-association-study-and-expression-quantitative-trait-loci-data-identifies-multiple-genes-and-gene-set-associated-with-neuroticism
#1
Qianrui Fan, Wenyu Wang, Jingcan Hao, Awen He, Yan Wen, Xiong Guo, Cuiyan Wu, Yujie Ning, Xi Wang, Sen Wang, Feng Zhang
Neuroticism is a fundamental personality trait with significant genetic determinant. To identify novel susceptibility genes for neuroticism, we conducted an integrative analysis of genomic and transcriptomic data of genome wide association study (GWAS) and expression quantitative trait locus (eQTL) study. GWAS summary data was driven from published studies of neuroticism, totally involving 170,906 subjects. eQTL dataset containing 927,753 eQTLs were obtained from an eQTL meta-analysis of 5311 samples. Integrative analysis of GWAS and eQTL data was conducted by summary data-based Mendelian randomization (SMR) analysis software...
May 25, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28548292/hypertriglyceridemic-acute-pancreatitis-in-an-emergency-department-the-typical-clinical-features-and-genetic-variants
#2
Wan Jun Chen, Xiao Fan Sun, Rui Xue Zhang, Min Jie Xu, Tong Hai Dou, Xiao Bin Zhang, Min Zhong, Wei Qiang Yang, Li Liu, Xiao Ye Lu, Chang Qing Zhu
OBJECTIVE: To investigate the clinical characteristics of hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to the hypertriglyceridemia in this group of patients. METHODS: Clinical data from 329 patients with AP were collected and analyzed. All the patients were divided into 1) HTGAP group (n = 40), with fasting serum triglyceride ≥ 500 mg/dL; and 2) NHTGAP group (n = 289). Next, the targeted next-generation sequencing was applied in 11 HTGAP patients to detect the genetic mutation associated with hypertriglyceridemia that included apolipoprotein A-5 (APOA5), apolipoprotein C-3 (APOC3), apolipoprotein E (APOE), BLK proto-oncogene, lipoprotein lipase (LPL), apolipoprotein C-2 (APOC2), glycosylphosphatidylinositol anchored high density lipoprotein binding protein-1(GPIHBP1), and lipase maturation factor-1(LMF1)...
May 26, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28347651/selective-targeting-of-sh2-domain-phosphotyrosine-interactions-of-src-family-tyrosine-kinases-with-monobodies
#3
Tim Kükenshöner, Nadine Eliane Schmit, Emilie Bouda, Fern Sha, Florence Pojer, Akiko Koide, Markus Seeliger, Shohei Koide, Oliver Hantschel
The binding of Src-homology 2 (SH2) domains to phosphotyrosine (pY) sites is critical for the autoinhibition and substrate recognition of the eight Src family kinases (SFKs). The high sequence conservation of the 120 human SH2 domains poses a significant challenge to selectively perturb the interactions of even the SFK SH2 family against the rest of the SH2 domains. We have developed synthetic binding proteins, termed monobodies, for six of the SFK SH2 domains with nanomolar affinity. Most of these monobodies competed with pY ligand binding and showed strong selectivity for either the SrcA (Yes, Src, Fyn, Fgr) or SrcB subgroup (Lck, Lyn, Blk, Hck)...
May 5, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28291124/myc-protein-positive-diffuse-large-b-cell-lymphoma-features-an-activated-b-cell-receptor-signal-pathway
#4
Wei-Ge Wang, Xiang-Nan Jiang, Ze-Bing Liu, Xiao-Yan Zhou, Xiao-Qiu Li
Components of the B-cell receptor (BCR) signaling pathway represent promising therapeutic targets in diffuse large B-cell lymphoma (DLBCL) and other B-cell malignancies. MYC, a transcriptional factor and oncoprotein, is overexpressed in a fraction of DLBCL and indicates poor prognosis and aggressive clinical course when treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). However, BCR signaling status in MYC-positive DLBCL cases and the potential efficacy of BCR signal inhibitors in treating this aggressive disease are unknown...
April 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28289186/multiple-signals-at-the-extended-8p23-locus-are-associated-with-susceptibility-to-systemic-lupus-erythematosus
#5
F Yesim Demirci, Xingbin Wang, David L Morris, Eleanor Feingold, Sasha Bernatsky, Christian Pineau, Ann Clarke, Rosalind Ramsey-Goldman, Susan Manzi, Timothy J Vyse, M Ilyas Kamboh
BACKGROUND: A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polymorphism region (encompassing 3.8 - 4.5  Mb) located at 8p23. Initially implicated genes included FAM167A-BLK and XKR6, of which BLK received major attention due to its known role in B-cell biology. Recently, additional SLE risk carried in non-inverted background was also reported. OBJECTIVE AND METHODS: In this case -control study, we further investigated the 'extended' 8p23 locus (~ 4  Mb) where we observed multiple SLE signals and assessed these signals for their relation to the inversion affecting this region...
June 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28247187/development-of-novel-immunopet-tracers-to-image-human-pd-1-checkpoint-expression-on-tumor-infiltrating-lymphocytes-in-a-humanized-mouse-model
#6
Arutselvan Natarajan, Aaron T Mayer, Robert E Reeves, Claude M Nagamine, Sanjiv Sam Gambhir
PURPOSE: It is well known that cancers exploit immune checkpoints (programmed death 1 receptor (PD-1) and its ligand (PD-L1)) to evade anti-tumor immune responses. Although immune checkpoint (IC) blockade is a promising approach, not all patients respond. Hence, imaging of tumor-infiltrating lymphocytes (TILs) is of high specific interest, as they are known to express PD-1 during activation and subsequent exhaustion in the tumor microenvironment and are thought to be potentially predictive of therapeutic responses to IC blockade...
February 28, 2017: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/28188716/-immunological-alterations-in-common-variable-immunodeficiency
#7
Laura Berrón-Ruiz
Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections. Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestations. In recent years, significant progress has been made in elucidating the genetic mechanisms that result in a IDCV phenotype...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28095440/comprehensive-maturity-onset-diabetes-of-the-young-mody-gene-screening-in-pregnant-women-with-diabetes-in-india
#8
Mahesh Doddabelavangala Mruthyunjaya, Aaron Chapla, Asha Hesarghatta Shyamasunder, Deny Varghese, Manika Varshney, Johan Paul, Mercy Inbakumari, Flory Christina, Ron Thomas Varghese, Kurien Anil Kuruvilla, Thomas V Paul, Ruby Jose, Annie Regi, Jessie Lionel, L Jeyaseelan, Jiji Mathew, Nihal Thomas
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes...
2017: PloS One
https://www.readbyqxmd.com/read/28068351/phenotype-and-tissue-expression-as-a-function-of-genetic-risk-in-polycystic-ovary-syndrome
#9
Cindy T Pau, Tim Mosbruger, Richa Saxena, Corrine K Welt
Genome-wide association studies and replication analyses have identified (n = 5) or replicated (n = 10) DNA variants associated with risk for polycystic ovary syndrome (PCOS) in European women. However, the causal gene and underlying mechanism for PCOS risk at these loci have not been determined. We hypothesized that analysis of phenotype, gene expression and metformin response as a function of genotype would identify candidate genes and pathways that could provide insight into the underlying mechanism for risk at these loci...
2017: PloS One
https://www.readbyqxmd.com/read/28031181/ibrutinib-inhibits-pre-bcr-b-cell-acute-lymphoblastic-leukemia-progression-by-targeting-btk-and-blk
#10
Ekaterina Kim, Christian Hurtz, Stefan Koehrer, Zhiqiang Wang, Sriram Balasubramanian, Betty Y Chang, Markus Müschen, R Eric Davis, Jan A Burger
Targeting B-cell receptor (BCR) signaling is a successful therapeutic strategy in mature B-cell malignancies. Precursor BCR (pre-BCR) signaling, which is critical during normal B lymphopoiesis, also plays an important role in pre-BCR(+) B cell acute lymphoblastic leukemia (B-ALL). Here, we investigated the activity and mechanism of action of the BTK inhibitor ibrutinib in preclinical models of B-ALL. Pre-BCR(+) ALL cells were exquisitely sensitive to ibrutinib at therapeutically relevant drug concentrations...
March 2, 2017: Blood
https://www.readbyqxmd.com/read/28006840/copy-number-variations-in-dcc-18q-and-erbb2-17q-are-associated-with-disease-free-survival-in-microsatellite-stable-colon-cancer
#11
MULTICENTER STUDY
David Sefrioui, Thomas Vermeulin, France Blanchard, Caroline Chapusot, Ludivine Beaussire, Laura Armengol-Debeir, Richard Sesboué, Alice Gangloff, Mohamed Hebbar, Marie-Christine Copin, Estelle Houivet, Lilian Schwarz, Florian Clatot, Jean-Jacques Tuech, Jacques Bénichou, Laurent Martin, Anne-Marie Bouvier, Jean-Christophe Sabourin, Nasrin Sarafan-Vasseur, Thierry Frébourg, Côme Lepage, Pierre Michel, Frédéric Di Fiore
We conducted a prospective study to assess the prognostic impact of selected copy number variations (CNVs) in Stage II-III microsatellite stable (MSS) colon cancer. A total of 401 patients were included from 01/2004 to 01/2009. The CNVs in 8 selected target genes, DCC/18q, EGFR/7p, TP53/17p, BLK/8p, MYC/8q, APC/5q, ERBB2/17q and STK6/20q, were detected using a quantitative multiplex polymerase chain reaction of short fluorescent fragment (QMPSF) method. The primary end-point was the impact of the CNVs on the 4-year disease-free survival (DFS)...
April 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27867740/regressing-basal-cell-carcinoma-masquerading-as-benign-lichenoid-keratosis
#12
Aleksandra Kulberg, Wolfgang Weyers
BACKGROUND: Benign lichenoid keratosis (BLK, LPLK) is often misdiagnosed clinically as superficial basal-cell carcinoma (BCC), especially when occurring on the trunk. However, BCCs undergoing regression may be associated with a lichenoid interface dermatitis that may be misinterpreted as BLK in histopathologic sections. METHODS: In order to assess the frequency of remnants of BCC in lesions interpreted as BLK, we performed step sections on 100 lesions from the trunk of male patients that had been diagnosed as BLK...
October 2016: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/27864698/blk-pathway-associated-rs13277113-ga-genotype-is-more-frequent-in-sle-patients-and-associated-with-low-gene-expression-and-increased-flares
#13
Omer Nuri Pamuk, Hakan Gurkan, Gulsum Emel Pamuk, Hilmi Tozkır, Julide Duymaz, Metin Yazar
We aimed to evaluate the relationship between some important genetic variations and expressions of these genes in our SLE population. We also determined their association with clinical parameters. Eighty-four SLE patients (79 F, 5 M) and 105 healthy controls (98 F, 7 M) were included in the study. rs13277113, rs2736340, rs7829816, rs6983130, rs2613310, and rs704853 polymorphisms, gene expressions of Src family kinases (Blk, Hck, Lck, and Lyn), and Syk kinases (Syk, ZAP70) were studied by real-time PCR. The heterozygous genotypic pattern (GA) for rs13277113 polymorphism was more frequent in patients with SLE when compared to that in controls (48...
January 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/27601209/preferential-expression-of-ighv-and-ighd-encoding-antibodies-with-exceptionally-long-cdr3h-and-a-rapid-global-shift-in-transcriptome-characterizes-development-of-bovine-neonatal-immunity
#14
Yfke Pasman, Daniele Merico, Azad K Kaushik
With an objective to understand natural development of bovine neonatal immunity, we analyzed 18 RNA-seq libraries from peripheral blood lymphocytes of three neonatal calves pre- (day 0) and post-colostrum (7, 14 and 28) uptake as compared to their dams. A significant global shift in neonatal transcriptome occurs within first week post-birth, in contrast to dams, with an upregulation of 717 genes. Global pathway analysis of the transcriptome revealed 110 differentially expressed immune-related genes, such as, complement, MHCII, chemokine receptors, defensins and cytokines, at birth...
February 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/27527254/genome-wide-association-studies-in-oesophageal-adenocarcinoma-and-barrett-s-oesophagus-a-large-scale-meta-analysis
#15
Puya Gharahkhani, Rebecca C Fitzgerald, Thomas L Vaughan, Claire Palles, Ines Gockel, Ian Tomlinson, Matthew F Buas, Andrea May, Christian Gerges, Mario Anders, Jessica Becker, Nicole Kreuser, Tania Noder, Marino Venerito, Lothar Veits, Thomas Schmidt, Hendrik Manner, Claudia Schmidt, Timo Hess, Anne C Böhmer, Jakob R Izbicki, Arnulf H Hölscher, Hauke Lang, Dietmar Lorenz, Brigitte Schumacher, Andreas Hackelsberger, Rupert Mayershofer, Oliver Pech, Yogesh Vashist, Katja Ott, Michael Vieth, Josef Weismüller, Markus M Nöthen, Stephen Attwood, Hugh Barr, Laura Chegwidden, John de Caestecker, Rebecca Harrison, Sharon B Love, David MacDonald, Paul Moayyedi, Hans Prenen, R G Peter Watson, Prasad G Iyer, Lesley A Anderson, Leslie Bernstein, Wong-Ho Chow, Laura J Hardie, Jesper Lagergren, Geoffrey Liu, Harvey A Risch, Anna H Wu, Weimin Ye, Nigel C Bird, Nicholas J Shaheen, Marilie D Gammon, Douglas A Corley, Carlos Caldas, Susanne Moebus, Michael Knapp, Wilbert H M Peters, Horst Neuhaus, Thomas Rösch, Christian Ell, Stuart MacGregor, Paul Pharoah, David C Whiteman, Janusz Jankowski, Johannes Schumacher
BACKGROUND: Oesophageal adenocarcinoma represents one of the fastest rising cancers in high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal adenocarcinoma. However, only a few patients with Barrett's oesophagus develop adenocarcinoma, which complicates clinical management in the absence of valid predictors. Within an international consortium investigating the genetics of Barrett's oesophagus and oesophageal adenocarcinoma, we aimed to identify novel genetic risk variants for the development of Barrett's oesophagus and oesophageal adenocarcinoma...
October 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27466937/new-developments-in-genetics-of-myositis
#16
REVIEW
Simon Rothwell, Janine A Lamb, Hector Chinoy
PURPOSE OF REVIEW: This article reviews the advances that have been made in our understanding of the genetics of the idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on polymyositis, dermatomyositis and inclusion body myositis. RECENT FINDINGS: Two large human leukocyte antigen (HLA) imputation studies have confirmed a strong association with the 8.1 ancestral haplotype in clinical subgroups of myositis and suggest multiple independent associations on this haplotype...
November 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27250108/genes-associated-with-common-variable-immunodeficiency-one-diagnosis-to-rule-them-all
#17
REVIEW
Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities...
September 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27186693/systems-level-analysis-of-genome-wide-association-study-results-for-a-pilot-juvenile-idiopathic-arthritis-family-study
#18
Yeşim Aydın-Son, Ezgi Deniz Batu, Erkan Demirkaya, Yelda Bilginer, Özgür Kasapçopur, Erbil Ünsal, Mehmet Alikaşifoglu, Seza Özen
Genome wide association studies (GWAS) determine susceptibility profiles for complex diseases. In this study, GWAS was performed in 26 patients with oligo and rheumatoid factor negative polyarticular juvenile idiopathic artritis (JIA) and their healthy parents by Affymetrix 250K SNP arrays. Biological function and pathway enrichment analysis was done. This is the first GWAS reported for JIA families from the eastern Mediterranean population. Enrichment of FcγR-mediated phagocytosis pathway and response to various stimuli were the leading discoveries, along with the presentation of the strong interaction of JIA-associated genes with HLA cluster in the co-expression network...
July 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27184141/the-non-genomic-loss-of-function-of-tumor-suppressors-an-essential-role-in-the-pathogenesis-of-chronic-myeloid-leukemia-chronic-phase
#19
REVIEW
Sabrina Crivellaro, Giovanna Carrà, Cristina Panuzzo, Riccardo Taulli, Angelo Guerrasio, Giuseppe Saglio, Alessandro Morotti
BACKGROUND: Chronic Myeloid Leukemia was always referred as a unique cancer due to the apparent independence from tumor suppressors' deletions/mutations in the early stages of the disease. However, it is now well documented that even genetically wild-type tumor suppressors can be involved in tumorigenesis, when functionally inactivated. In particular, tumor suppressors' functions can be impaired by subtle variations of protein levels, changes in cellular compartmentalization and post-transcriptional/post-translational modifications, such as phosphorylation, acetylation, ubiquitination and sumoylation...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27114252/molecular-characterization-and-growth-optimization-of-halo-tolerant-protease-producing-bacillus-subtilis-strain-blk-1-5-isolated-from-salt-mines-of-karak-pakistan
#20
Nawab Ali, Nimat Ullah, Muhammad Qasim, Hazir Rahman, Shahid Niaz Khan, Abdul Sadiq, Muhammad Adnan
Microbial proteolytic enzyme is one of the most important industrial enzymes that hydrolyze proteins. The applications of proteases under harsh industrial conditions like alkalinity, salinity, and temperature make them inactive and unstable. This suggests need for search for novel microbial sources for protease production having diverse properties. For this purpose, 54 bacterial strains were isolated from different salt mines of Karak, Pakistan and were investigated for their proteolytic activity on skim milk agar plates...
July 2016: Extremophiles: Life Under Extreme Conditions
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