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Bernard-soulier

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https://www.readbyqxmd.com/read/29119855/two-novel-variants-of-uncertain-significance-in-gp9-associated-with-bernard-soulier-syndrome-are-they-true-mutations
#1
P Boisseau, C Debord, M Eveillard, A Quéméner, M Sigaud, M Giraud, P Talarmain, C Thomas, G Landeau, S Bezieau, B Pan Petesch, M C Béné, M Fouassier
Bernard-Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding. This rare disease, initially described in the 1970s, is the result of an abnormal formation of the glycoprotein complex Ib-IX-V (GP Ib-IX-V), a platelet receptor of von Willebrand factor. A large number of mutations, sometimes involving the GP9 gene, have been described as possibly responsible for the disease. We report here the case of a BSS patient who presented with persistent thrombocytopenia (31x10(9)/L) and decreased surface expression of GPIb-IX-V on large platelets with anisocytosis...
November 9, 2017: Platelets
https://www.readbyqxmd.com/read/29090587/challenges-on-the-diagnostic-approach-of-inherited-platelet-function-disorders-is-a-paradigm-change-necessary
#2
Tiago Nava, Georges-Etienne Rivard, Arnaud Bonnefoy
Inherited platelet function disorders (IPFD) have been assessed for more than 50 years by aggregation- and secretion-based tests. Several decision trees are available intending to standardize the investigation of IPFD. A large variability of approaches is still in use among the laboratories across the world. In spite of costly and lengthy laboratory evaluation, the results have been found inconclusive or negative in a significant part of patients having bleeding manifestations. Molecular investigation of newly identified IPFD has recently contributed to a better understanding of the complexity of platelet function...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29043243/combined-occurrence-of-bernard-soulier-syndrome-and-prekallikrein-deficiency
#3
Ehsan Shahverdi, Hassan Abolghasemi, Minoo Ahmadinejad
No abstract text is available yet for this article.
September 2017: Blood Research
https://www.readbyqxmd.com/read/28765788/a-brazilian-case-of-bernard-soulier-syndrome-with-two-distinct-founder-mutations
#4
Kenji Kanda, Shinji Kunishima, Aya Sato, Daisuke Abe, Setsuko Nishijima, Tsuyoshi Ishigami
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28658773/haemostatic-disorder-in-women-with-unexplained-menorrhagia-a-tertiary-care-centre-experience-from-northern-india
#5
Rashmi Kushwaha, Ashutosh Kumar, Kusum Lata Mishra, Pushp Lata Sankhwar, Renu Singh
INTRODUCTION: Menorrhagia is a common gynaecological problem and its cause remains unexplained in a significant proportion of females. AIM: The present study was done to diagnose a wide range of haemostatic disorders which can give rise to menorrhagia in women of adolescent, postadolescent and perimenopausal age group. MATERIALS AND METHODS: A total of 1100 women presenting to gynaecological emergency with complaints of menorrhagia underwent comprehensive evaluation...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#6
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
August 2017: Nature Genetics
https://www.readbyqxmd.com/read/28643773/a-cdc42-rhoa-regulatory-circuit-downstream-of-glycoprotein-ib-guides-transendothelial-platelet-biogenesis
#7
Sebastian Dütting, Frederique Gaits-Iacovoni, David Stegner, Michael Popp, Adrien Antkowiak, Judith M M van Eeuwijk, Paquita Nurden, Simon Stritt, Tobias Heib, Katja Aurbach, Oguzhan Angay, Deya Cherpokova, Niels Heinz, Ayesha A Baig, Maximilian G Gorelashvili, Frank Gerner, Katrin G Heinze, Jerry Ware, Georg Krohne, Zaverio M Ruggeri, Alan T Nurden, Harald Schulze, Ute Modlich, Irina Pleines, Cord Brakebusch, Bernhard Nieswandt
Blood platelets are produced by large bone marrow (BM) precursor cells, megakaryocytes (MKs), which extend cytoplasmic protrusions (proplatelets) into BM sinusoids. The molecular cues that control MK polarization towards sinusoids and limit transendothelial crossing to proplatelets remain unknown. Here, we show that the small GTPases Cdc42 and RhoA act as a regulatory circuit downstream of the MK-specific mechanoreceptor GPIb to coordinate polarized transendothelial platelet biogenesis. Functional deficiency of either GPIb or Cdc42 impairs transendothelial proplatelet formation...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#8
A Greinacher, A Pecci, S Kunishima, K Althaus, P Nurden, C L Balduini, T Bakchoul
Essentials There are many hereditary platelet disorders (HPD) but diagnosing these is challenging. We provide a method to diagnose several HPDs using standard blood smears requiring < 100 µL blood. By this approach, the underlying cause of HPD was characterized in ~25-30% of referred individuals. The method facilitates diagnosis of HPD for patients of all ages around the world. SUMMARY: Background Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging...
July 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28395735/induced-pluripotent-stem-cells-derived-from-bernard-soulier-syndrome-patient-s-peripheral-blood-cells-with-a-p-phe55ser-mutation-in-the-gpix-gene
#9
Lourdes Lopez-Onieva, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS patient with a p.Phe55Ser mutation in the GPIX gene. Characterization of BSS3-PBMC-iPS4F8 showed that these cells maintained the original mutation present in the BSS patient, expressed pluripotent stem cell markers and were able to differentiate into the three germline layers...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#10
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28385783/bleeding-risk-of-surgery-and-its-prevention-in-patients-with-inherited-platelet-disorders
#11
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G Heller, Cristina Santoro, Rezan A Kadir, Nora C Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a worldwide, multicentric, retrospective study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted, and their efficacy in patients with inherited platelet disorders: the Surgery in Platelet disorders And Therapeutic Approach (SPATA) study. We rated the outcome of 829 surgical procedures carried out in 423 patients with well-defined forms of inherited platelet disorders: 238 inherited platelet function disorders and 185 inherited platelet number disorders...
July 2017: Haematologica
https://www.readbyqxmd.com/read/28131619/patients-with-bernard-soulier-syndrome-and-different-severity-of-the-bleeding-phenotype
#12
D Boeckelmann, H Hengartner, A Greinacher, U Nowak-Göttl, U J Sachs, K Peter, K Sandrock-Lang, B Zieger
Bernard-Soulier syndrome is a rare (1:1million), hereditary bleeding disorder caused by defects of the platelet GPIb-IX-V complex. Patients suffer from mucocutaneous bleedings. Typical are thrombocytopenia, giant platelets and impaired agglutination after stimulation with ristocetin. In populations in which consanguineous marriages are common the frequency of the disorder is increased because Bernard-Soulier syndrome is mostly inherited autosomal recessively. Genetic analyses of the disease-related genes may help to gain more insights regarding the phenotype/genotype correlation...
January 22, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27934591/generation-of-a-human-induced-pluripotent-stem-cell-ipsc-line-from-a-bernard-soulier-syndrome-patient-with-the-mutation-p-asn45ser-in-the-gpix-gene
#13
Lourdes Lopez-Onieva, Candela Machuca, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies...
November 8, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27596517/corrigendum-to-generation-of-induced-pluripotent-stem-cells-ipscs-from-a-bernard-soulier-syndrome-patient-carrying-a-w71r-mutation-in-the-gpix-gene-stem-cell-res-16-3-2016-692-695
#14
Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
No abstract text is available yet for this article.
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27429530/evaluation-of-the-hemostatic-disorders-in-adolescent-girls-with-menorrhagia-experiences-from-a-tertiary-referral-hospital
#15
Kamuran Karaman, Nesrin Ceylan, Erbil Karaman, Sinan Akbayram, Hatice Tuba Akbayram, Sultan Kaba, Mesut Garipardıç, Ahmet Fayik Öner
Bleeding disorders are a common cause of menorrhagia in the adolescent age group. We aimed to evaluate the incidence of hemostatic disorders, using clinical and laboratory findings of bleeding disorders in adolescent girls with menorrhagia. A retrospective chart review used to evaluate adolescent girls with menorrhagia who were referred to Yuzuncu Yil University Pediatric Hematology clinic between January 2010 and December 2014. Out of 52 patients referred for investigation, 50 patients were included in the study...
September 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27405675/genomic-approaches-to-bleeding-disorders
#16
F Peyvandi, C P M Hayward
The genes encoding the coagulation factors were characterized over two decades ago. Since then, significant progress has been made in the genetic diagnosis of the two commonest severe inherited bleeding disorders, haemophilia A and B. Experience with the genetic of inherited rare bleeding disorders and platelet disorders is less well advanced. Rare bleeding disorders are usually inherited as autosomal recessive disorders, while it is now clear that a number of the more common platelet function disorders are inherited as autosomal dominant traits...
July 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27346198/generation-of-induced-pluripotent-stem-cells-ipscs-from-a-bernard-soulier-syndrome-patient-carrying-a-w71r-mutation-in-the-gpix-gene
#17
Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
We generated an induced pluripotent stem cell (iPSC) line from a Bernard-Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies...
May 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27185855/a-nonsense-mutation-in-the-dna-repair-factor-hebo-causes-mild-bone-marrow-failure-and-microcephaly
#18
Shu Zhang, Corinne Pondarre, Gaelle Pennarun, Helene Labussiere-Wallet, Gabriella Vera, Benoit France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard Lopez, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean-Pierre de Villartay
Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We analyzed a patient with mild bone marrow failure and microcephaly who did not present with the typical FA phenotype...
May 30, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27148783/lentiviral-gene-rescue-of-a-bernard-soulier-mouse-model-to-study-platelet-glycoprotein-ib%C3%AE-function
#19
C Strassel, A Bull, S Moog, N Receveur, L Mallo, P Mangin, A Eckly, M Freund, A Dubart-Kupperschmitt, C Gachet, F Lanza
UNLABELLED: Essentials A signaling role of glycoprotein (GP)Ibβ is postulated but not formally demonstrated in platelets. Lentiviral-mediated rescue in knock-out mice can be used to evaluate GPIbβ function in vivo. Transduction of the native subunit corrected the main defects associated with GPIb-IX deficiency Deletion of intracellular 159-170 segment increased thrombosis, 150-160 removal increased bleeding. SUMMARY: Background The platelet glycoprotein (GP)Ib-V-IX complex is required for normal hemostasis and megakaryopoiesis...
July 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27100304/the-utility-of-international-society-on-thrombosis-and-haemostasis-bleeding-assessment-tool-and-other-bleeding-questionnaires-in-assessing-the-bleeding-phenotype-in-two-platelet-function-defects
#20
Harmanpreet Kaur, Munira Borhany, Hanan Azzam, Carolina Costa-Lima, Margareth Ozelo, Maha Othman
The main objective of this study is to investigate the utility of International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool (ISTH-BAT) in comparison with the condensed form of Molecular and Clinical Markers for the Diagnosis and Management of type 1 and WHO BATs, in assessing bleeding in two well known and clinically significant platelet function defects. Thirty-eight patients previously diagnosed with Glanzmann's thrombasthenia and 10 with Bernard-Soulier syndrome (BSS) were analyzed. Bleeding scores were significantly higher than that of controls using both electronic bleeding questionnaire (eBQ) and ISTH-BAT with no significant difference between both tools...
July 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
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