keyword
MENU ▼
Read by QxMD icon Read
search

Vwf gene

keyword
https://www.readbyqxmd.com/read/28091443/molecular-characterization-of-exon-28-of-von-willebrand-s-factor-gene-in-nigerian-population
#1
E D Ezigbo, E O Ukaejiofo, T U Nwagha
BACKGROUND: Polymorphisms in von Willebrand factor (VWF) gene are an important contributor to the expression of VWF gene and differences in ethnic distribution of these single nucleotide polymorphisms (SNPs) exists. AIMS: Our objective was to molecularly characterize the exon 28 of the VWF gene in the three major ethnic groups of Nigeria. SUBJECTS AND METHODS: We recruited 90 subjects, 45 had a history of bleeding. Questions included those used in the Zimmerman Program for the Molecular and Clinical Biology of von Willebrand disease (VWD), and the bleeding scores were calculated using the Molecular and Clinical Markers for the Diagnosis and Management of type 1 VWD scoring system...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28000367/cell-adhesive-peptides-functionalized-on-cocr-alloy-stimulate-endothelialization-and-prevent-thrombogenesis-and-restenosis
#2
Maria Isabel Castellanos, Jordi Guillem-Marti, Carlos Mas-Moruno, Maribel Díaz-Ricart, Ginés Escolar, Maria Pau Ginebra, Francisco Javier Gil, Marta Pegueroles, Jose María Manero
Immobilization of bioactive peptide sequences on CoCr surfaces is an effective route to improve endothelialization, which is of great interest for cardiovascular stents. In this work, we explored the effect of physical and covalent immoblization of RGDS, YIGSR and their equimolar combination peptides on endothelial cells (EC) and smooth muscle cell (SMC) adhesion and on thrombogenicity. We extensively investigated using RT-qPCR, the expression by ECs cultured on functionalised CoCr surfaces of different genes...
December 21, 2016: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/27941341/sulodexide-reduces-the-proinflammatory-effect-of-serum-from-patients-with-peripheral-artery-disease-in-human-arterial-endothelial-cells
#3
Patrycja Sosińska, Ewa Baum, Beata Maćkowiak, Magdalena Maj, Katarzyna Sumińska-Jasińska, Ryszard Staniszewski, Andrzej Bręborowicz
BACKGROUND/AIMS: Dysfunction of the arterial endothelial cells promotes the progression of atherosclerosis. We studied how exposure of human arterial endothelial cells to atherosclerotic serum from patients with peripheral artery disease changes the secretory activity of these cells, and whether that reaction is modified by sulodexide. METHODS: Endothelial cells in in vitro culture were exposed to standard culture medium ± 100pg/mL Interleukin-1(IL-1) or to medium supplemented with 20% atherosclerotic serum...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27929200/obesity-insulin-resistance-rather-than-liver-fat-increases-coagulation-factor-activities-and-expression-in-humans
#4
Susanna Lallukka, Panu K Luukkonen, You Zhou, Elina M Petäjä, Marja Leivonen, Anne Juuti, Antti Hakkarainen, Marju Orho-Melander, Nina Lundbom, Vesa M Olkkonen, Riitta Lassila, Hannele Yki-Järvinen
Increased liver fat may be caused by insulin resistance and adipose tissue inflammation or by the common I148M variant in PNPLA3 at rs738409, which lacks both of these features. We hypothesised that obesity/insulin resistance rather than liver fat increases circulating coagulation factor activities. We measured plasma prothrombin time (PT, Owren method), activated partial thromboplastin time (APTT), activities of several coagulation factors, VWF:RCo and fibrinogen, and D-dimer concentration in 92 subjects divided into groups based on insulin sensitivity [insulin-resistant ('IR') versus insulin-sensitive ('IS')] and PNPLA3 genotype (PNPLA3(148MM/MI) vs PNPLA3(148II))...
December 8, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#5
Arjun Swami, Varinder Kaur
von Willebrand disease (vWD) is the most common inherited disorder of hemostasis and comprises a spectrum of heterogeneous subtypes. Significant advances have been made in understanding von Willebrand factor (vWF) gene mutations, resultant physiologic deficits in the vWF peptide, and their correlation to clinical presentation. Diagnostic tests for this disorder are complex, and interpretation requires a thorough understanding of the underlying pathophysiology by the practicing physician. The objective of this review is to summarize our current understanding of pathophysiology, laboratory investigations, and evolving treatment paradigm of vWD with the availability of recombinant von Willebrand factor...
December 5, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27899395/functional-definition-of-progenitors-versus-mature-endothelial-cells-reveals-key-soxf-dependent-differentiation-process
#6
Jatin Patel, Elke J Seppanen, Mathieu P Rodero, Ho Yi Wong, Prudence Donovan, Zoltan Neufeld, Nicholas M Fisk, Mathias François, Kiarash Khosrotehrani
BACKGROUND: -During adult life, blood vessel formation is thought to occur via angiogenic processes involving branching from existing vessels. An alternate proposal suggests that neo-vessels form from endothelial progenitors able to assemble the intimal layers. We here aimed to define vessel-resident endothelial progenitors in vivo in a variety of tissues in physiological and pathological situations such as normal aorta, lungs, as well as wound healing, tumors and placenta. METHODS: -Based on protein expression levels of common endothelial markers using flow cytometry, three sub-populations of endothelial cells could be identified among VE-Cadherin+ and CD45- cells...
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27797778/network-based-analysis-of-omics-data-the-lean-method
#7
Frederik Gwinner, Gwénola Boulday, Claire Vandiedonck, Minh Arnould, Cécile Cardoso, Iryna Nikolayeva, Oriol Guitart-Pla, Cécile V Denis, Olivier D Christophe, Johann Beghain, Elisabeth Tournier-Lasserve, Benno Schwikowski
MOTIVATION: Most computational approaches for the analysis of omics data in the context of interaction networks have very long running times, provide single or partial, often heuristic, solutions, and/or contain user-tuneable parameters. RESULTS: We introduce local enrichment analysis (LEAN) for the identification of dysregulated subnetworks from genome-wide omics data sets. By substituting the common subnetwork model with a simpler local subnetwork model, LEAN allows exact, parameter-free, efficient, and exhaustive identification of local subnetworks that are statistically dysregulated, and directly implicates single genes for follow-up experiments...
October 26, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27766062/de-novo-mutation-and-somatic-mosaicism-of-gene-mutation-in-type-2a-2b-and-2m-vwd
#8
Ming-Ching Shen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Ching-Yeh Lin, Bo-Do Lin, Han-Ni Hsieh
BACKGROUND: Von Willebrand disease (VWD) is not uncommon in Taiwan. In type 2 or type 3 VWD hemorrhagic symptoms are severer and laboratory data relatively more distinctive. De novo mutation and somatic mosaicism of type 2 VWD gene were rarely reported. Therefore clinical, laboratory and genetic studies of only type 2A, 2B and 2M VWD will be presented and issues of de novo mutation and somatic mosaicism will be explored. METHODS: Fifty-four patients belonging to 23 unrelated families from all around the country in whom type 2 VWD exclusive of type 2N has been diagnosed not only by clinical and routine laboratory studies but also by genetic confirmation during 1990-2015 were investigated...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27734074/application-of-a-molecular-diagnostic-algorithm-for-haemophilia-a-and-b-using-next-generation-sequencing-of-entire-f8-f9-and-vwf-genes
#9
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27734030/lim-kinase-cofilin-dysregulation-promotes-macrothrombocytopenia-in-severe-von-willebrand-disease-type-2b
#10
Alexandre Kauskot, Sonia Poirault-Chassac, Frédéric Adam, Vincent Muczynski, Gabriel Aymé, Caterina Casari, Jean-Claude Bordet, Christelle Soukaseum, Chantal Rothschild, Valérie Proulle, Audrey Pietrzyk-Nivau, Eliane Berrou, Olivier D Christophe, Jean-Philippe Rosa, Peter J Lenting, Marijke Bryckaert, Cécile V Denis, Dominique Baruch
von Willebrand disease type 2B (VWD-type 2B) is characterized by gain-of-function mutations of von Willebrand factor (vWF) that enhance its binding to platelet glycoprotein Ibα and alter the protein's multimeric structure. Patients with VWD-type 2B display variable extents of bleeding associated with macrothrombocytopenia and sometimes with thrombopathy. Here, we addressed the molecular mechanism underlying the severe macrothrombocytopenia both in a knockin murine model for VWD-type 2B by introducing the p...
October 6, 2016: JCI Insight
https://www.readbyqxmd.com/read/27683759/a-novel-platelet-type-von-willebrand-disease-mutation-gp1ba-p-met255ile-associated-with-type-2b-malm%C3%A3-new-york-von-willebrand-disease
#11
Cécile Lavenu-Bombled, Corinne Guitton, Arnaud Dupuis, Marie-Jeanne Baas, Céline Desconclois, Marie Dreyfus, Renhao Li, Claudine Caron, Christian Gachet, Edith Fressinaud, François Lanza
Interaction between von Willebrand factor (VWF) and platelet GPIbα is required for primary haemostasis. Lack or loss-of-function in the ligand-receptor pair results in bleeding complications. Paradoxically, gain-of-function mutations in VWF or GPIbα also result in bleeding complications as observed in type 2B von Willebrand disease (VWD) and platelet-type- (PT-) VWD, respectively. A similar phenotype is observed with increased ristocetin-induced platelet agglutination and disappearance of the highest molecular weight multimers of VWF...
November 30, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27584569/association-of-single-nucleotide-polymorphisms-in-the-st3gal4-gene-with-vwf-antigen-and-factor-viii-activity
#12
Jaewoo Song, Cheng Xue, John S Preisser, Drake W Cramer, Katie L Houck, Guo Liu, Aaron R Folsom, David Couper, Fuli Yu, Jing-Fei Dong
VWF is extensively glycosylated with biantennary core fucosylated glycans. Most N-linked and O-linked glycans on VWF are sialylated. FVIII is also glycosylated, with a glycan structure similar to that of VWF. ST3GAL sialyltransferases catalyze the transfer of sialic acids in the α2,3 linkage to termini of N- and O-glycans. This sialic acid modification is critical for VWF synthesis and activity. We analyzed genetic and phenotypic data from the Atherosclerosis Risk in Communities (ARIC) study for the association of single nucleotide polymorphisms (SNPs) in the ST3GAL4 gene with plasma VWF levels and FVIII activity in 12,117 subjects...
2016: PloS One
https://www.readbyqxmd.com/read/27543438/intron-retention-resulting-from-a-silent-mutation-in-the-vwf-gene-that-structurally-influences-the-5-splice-site
#13
Hamideh Yadegari, Arijit Biswas, Mohammad Suhail Akhter, Julia Driesen, Vytautas Ivaskevicius, Natascha Marquardt, Johannes Oldenburg
Disease-associated silent mutations are considered to affect the accurate pre-messenger RNA (mRNA) splicing either by influencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site. This study describes a new molecular pathological mechanism by which a silent mutation inhibits splicing and leads to intron retention. We identified a heterozygous silent mutation, c.7464C>T, in exon 44 of the von Willebrand factor (VWF) gene in a family with type 1 von Willebrand disease...
October 27, 2016: Blood
https://www.readbyqxmd.com/read/27536857/protective-effect-of-a-disintegrin-and-metalloproteinase-with-a-thrombospondin-type-1-motif-member-13-haplotype-on-coronary-artery-disease
#14
Supakanya Lasom, Nantarat Komanasin, Nongnuch Settasatian, Chatri Settasatian, Upa Kukongviriyapan, Pongsak Intharapetch, Vichai Senthong
Genetic variations of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) and von Willebrand factor (vWF) were related to ADAMTS13 levels. Reduction of ADAMTS13 activity may affect atherosclerotic progression. However, the associations of polymorphisms of these genes with coronary artery disease (CAD) are still unclear. This study, therefore, aimed to investigate the relationship of genetic variations and haplotypes of ADAMTS13 and vWF with CAD risk in Thais. A case-control study was performed in 197 CAD and 135 non-CAD patients...
August 16, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/27505249/determinants-of-acquired-activated-protein-c-resistance-and-d-dimer-in-breast-cancer
#15
Mari Tinholt, Per Morten Sandset, Marie-Christine Mowinckel, Øystein Garred, Kristine Kleivi Sahlberg, Vessela N Kristensen, Anne-Lise Børresen-Dale, Anne Flem Jacobsen, Grethe Skretting, Nina Iversen
BACKGROUND: We have previously reported acquired activated protein C (APC) resistance and elevated plasma D-dimer levels in breast cancer patients. Here, we aimed to identify phenotypic and genetic determinants that contribute to the acquired APC resistance and increased D-dimer levels in breast cancer. Healthy controls served as reference. We also addressed whether higher APC resistance or D-dimer levels could be potential markers of clinicopathological breast cancer characteristics...
September 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27458816/induction-of-genes-expressed-in-endothelial-cells-of-the-corpus-callosum-in-the-chronic-cerebral-hypoperfusion-rat-model
#16
Yasuhiro Aso, Kenichiro Nakamura, Noriyuki Kimura, Makoto Takemaru, Ryuki Arakawa, Minoru Fujiki, Teruyuki Hirano, Toshihide Kumamoto, Etsuro Matsubara
BACKGROUND: Cerebrovascular white matter lesions (WMLs) are associated with cognitive impairment in patients with subcortical vascular dementia. We performed a comprehensive gene expression analysis to elucidate genes associated with WML development in a chronic cerebral hypoperfusion rat model. METHODS: Brains of rats with bilateral carotid ligation (2VO, n = 10) and sham-operated rats (n = 5-10/group) were removed on days 1, 7, or 28 after surgery. Total RNA isolated from the corpus callosum was evaluated by microarray analysis and quantitative reverse transcription-polymerase chain reaction...
2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27443965/gene-silencing-of-endothelial-von-willebrand-factor-attenuates-angiotensin-ii-induced-endothelin-1-expression-in-porcine-aortic-endothelial-cells
#17
Anar Dushpanova, Silvia Agostini, Enrica Ciofini, Manuela Cabiati, Valentina Casieri, Marco Matteucci, Silvia Del Ry, Aldo Clerico, Sergio Berti, Vincenzo Lionetti
Expression of endothelin (ET)-1 is increased in endothelial cells exposed to angiotensin II (Ang II), leading to endothelial dysfunction and cardiovascular disorders. Since von Willebrand Factor (vWF) blockade improves endothelial function in coronary patients, we hypothesized that targeting endothelial vWF with short interference RNA (siRNA) prevents Ang II-induced ET-1 upregulation. Nearly 65 ± 2% silencing of vWF in porcine aortic endothelial cells (PAOECs) was achieved with vWF-specific siRNA without affecting cell viability and growth...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27443694/diagnostic-differentiation-of-von-willebrand-disease-types-1-and-2-by-von-willebrand-factor-multimer-analysis-and-ddavp-challenge-test
#18
Jan Jacques Michiels, Petr Smejkal, Miroslav Penka, Angelika Batorova, Tatiana Pricangova, Ulrich Budde, Inge Vangenechten, Alain Gadisseur
The European Clinical Laboratory and Molecular (ECLM) classification of von Willebrand disease (vWD) is based on the splitting approach which uses sensitive and specific von Willebrand factor (vWF) assays with regard to the updated molecular data on structure and function of vWF gene and protein defects. A complete set of FVIII:C and vWF ristocetine cofactor, collagen binding, and antigen, vWF multimeric analysis in low- and medium-resolution gels, and responses to desmopressin (DDAVP) of FVIII:C and vWF parameters are mandatory...
July 21, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27428891/how-much-do-we-really-know-about-von-willebrand-disease
#19
Laura L Swystun, David Lillicrap
PURPOSE OF REVIEW: In the last nine decades, large advances have been made toward the characterization of the pathogenic basis and clinical management of von Willebrand disease (VWD), the most prevalent inherited bleeding disorder. Pathological variations at the von Willebrand factor (VWF) locus present as a range of both quantitative and qualitative abnormalities that make up the complex clinical spectrum of VWD. This review describes the current understanding of the pathobiological basis of VWD...
September 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27426859/current-and-emerging-approaches-for-assessing-von-willebrand-disease-in-2016
#20
REVIEW
A B Federici
UNLABELLED: von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of von Willebrand factor (VWF). VWD is inherited in an autosomal dominant or recessive pattern, but women are apparently more symptomatic. Diagnosis of VWD is still difficult in most countries due to the multiple activities of VWF and the heterogeneity of the disease. VWD is mainly associated with mild mucosal bleeding although gastrointestinal and joint bleeds may occur in severe VWD forms...
May 2016: International Journal of Laboratory Hematology
keyword
keyword
67517
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"