Full Text Journal Articles by
Author Carlo Brugnara

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Diagnostics with modern genomics.

Carlo Brugnara,

Am J Hematol (American journal of hematology)
[2021, 96(11):E447]

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A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.

David H Vandorpe, Boris E Shmukler, Yann Ilboudo, Swati Bhasin, Beena Thomas, Alicia Rivera, Jay G Wohlgemuth, Jeffrey S Dlott, L Michael Snyder, Colin Sieff, Manoj Bhasin, Guillaume Lettre, Carlo Brugnara, Seth L Alper,

Haematologica (Haematologica)
[2021, 106(10):2759-2762]

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Global genome analysis reveals a vast and dynamic anellovirus landscape within the human virome.

Cesar A Arze, Simeon Springer, Gytis Dudas, Sneha Patel, Agamoni Bhattacharyya, Harish Swaminathan, Carlo Brugnara, Simon Delagrave, Tuyen Ong, Avak Kahvejian, Yann Echelard, Erica G Weinstein, Roger J Hajjar, Kristian G Andersen, Nathan L Yozwiak,

Anelloviruses are a ubiquitous component of healthy human viromes and remain highly prevalent after being acquired early in life. The full extent of "anellome" diversity and its evolutionary dynamics remain unexplored. We employed in-depth sequencing of blood-transfusion donor(s)-recipient pairs coupled with public genomic resources for a large-scale assembly of anellovirus ... Read more >>

Cell Host Microbe (Cell host & microbe)
[2021, 29(8):1305-1315.e6]

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An artificial intelligence-assisted diagnostic platform for rapid near-patient hematology.

Neta Bachar, Dana Benbassat, David Brailovsky, Yochay Eshel, Dan Glück, Daniel Levner, Sarah Levy, Sharon Pecker, Evgeny Yurkovsky, Amir Zait, Cordelia Sever, Alexander Kratz, Carlo Brugnara,

Hematology analyzers capable of performing complete blood count (CBC) have lagged in their prevalence at the point-of-care. Sight OLO (Sight Diagnostics, Israel) is a novel hematological platform which provides a 19-parameter, five-part differential CBC, and is designed to address the limitations in current point-of-care hematology analyzers using recent advances in ... Read more >>

Am J Hematol (American journal of hematology)
[2021, 96(10):1264-1274]

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Dietary ω-3 Fatty Acid Supplementation Improves Murine Sickle Cell Bone Disease and Reprograms Adipogenesis.

Maria Teresa Valenti, Alessandro Mattè, Enrica Federti, Mark Puder, Lorenzo Anez-Bustillos, Michela Deiana, Samuele Cheri, Arianna Minoia, Carlo Brugnara, Maria Luisa Di Paolo, Luca Dalle Carbonare, Lucia De Franceschi,

Sickle cell disease (SCD) is a genetic disorder of hemoglobin, leading to chronic hemolytic anemia and multiple organ damage. Among chronic organ complications, sickle cell bone disease (SBD) has a very high prevalence, resulting in long-term disability, chronic pain and fractures. Here, we evaluated the effects of ω-3 (fish oil-based, ... Read more >>

Antioxidants (Basel) (Antioxidants (Basel, Switzerland))
[2021, 10(5):]

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Using Reticulocyte Hemoglobin Equivalent as a Marker for Iron Deficiency and Responsiveness to Iron Therapy.

Michael Auerbach, Steven J Staffa, Carlo Brugnara,

<h4>Objective</h4>To assess the accuracy of a simplified approach for the diagnosis of iron deficiency anemia (IDA) based on the complete blood cell count (CBC) and reticulocyte analysis.<h4>Patients and methods</h4>Five hundred fifty-six consecutive, nonselected patients referred for diagnosis and/or treatment of anemia were included in this diagnostic study to compare the ... Read more >>

Mayo Clin Proc (Mayo Clinic proceedings)
[2021, 96(6):1510-1519]

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An Artificial Intelligence-Assisted Diagnostic Platform for Rapid Near-Patient Hematology

Neta Bachar, Dana Benbassat, David Brailovsky, Yochay Eshel, Dan Glück, Daniel Levner, Sarah Levy, Sharon Pecker, Evgeny Yurkovsky, Amir Zait, Cordelia Sever, Alexander Kratz, Carlo Brugnara,

Hematology analyzers capable of performing complete blood count (CBC) have lagged in their prevalence at the point-of-care. Sight OLO® (Sight Diagnostics, Israel) is a novel hematological platform which provides a 19 parameter, five-part differential CBC, and is designed to address the limitations in current point-of-care hematology analyzers using recent advances ... Read more >>

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The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.

Alessandro Matte, Enrica Federti, Charles Kung, Penelope A Kosinski, Rohini Narayanaswamy, Roberta Russo, Giorgia Federico, Francesca Carlomagno, Maria Andrea Desbats, Leonardo Salviati, Christophe Leboeuf, Maria Teresa Valenti, Francesco Turrini, Anne Janin, Shaoxia Yu, Elisabetta Beneduce, Sebastien Ronseaux, Iana Iatcenko, Lenny Dang, Tomas Ganz, Chun-Ling Jung, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi,

Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblasts and erythrocytes, impacting cell metabolism. We hypothesized that increased pyruvate kinase activity induced by mitapivat (AG-348) in the Hbbth3/+ mouse model ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2021, 131(10):]

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Haematological effects of oral administration of bitopertin, a glycine transport inhibitor, in patients with non-transfusion-dependent β-thalassaemia.

Ali T Taher, Vip Viprakasit, Maria Domenica Cappellini, Dominik Kraus, Patrick Cech, Dietmar Volz, Erica Winter, Stephane Nave, Juergen Dukart, Omar Khwaja, Annette Koerner, Ricardo Hermosilla, Carlo Brugnara,

Br J Haematol (British journal of haematology)
[2021, 194(2):474-477]

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Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.

David Zemmour, Louis-Marie Charbonnier, Juliette Leon, Emmanuelle Six, Sevgi Keles, Marianne Delville, Mehdi Benamar, Safa Baris, Julien Zuber, Karin Chen, Benedicte Neven, Maria I Garcia-Lloret, Frank M Ruemmele, Carlo Brugnara, Nadine Cerf-Bensussan, Frederic Rieux-Laucat, Marina Cavazzana, Isabelle André, Talal A Chatila, Diane Mathis, Christophe Benoist,

FOXP3 deficiency in mice and in patients with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome results in fatal autoimmunity by altering regulatory T (T<sub>reg</sub>) cells. CD4<sup>+</sup> T cells in patients with IPEX syndrome and Foxp3-deficient mice were analyzed by single-cell cytometry and RNA-sequencing, revealing heterogeneous T<sub>reg</sub>-like cells, some very similar ... Read more >>

Nat Immunol (Nature immunology)
[2021, 22(5):607-619]

Cited: 3 times

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Plasmodium vivax infection compromises reticulocyte stability.

Martha A Clark, Usheer Kanjee, Gabriel W Rangel, Laura Chery, Anjali Mascarenhas, Edwin Gomes, Pradipsinh K Rathod, Carlo Brugnara, Marcelo U Ferreira, Manoj T Duraisingh,

The structural integrity of the host red blood cell (RBC) is crucial for propagation of Plasmodium spp. during the disease-causing blood stage of malaria infection. To assess the stability of Plasmodium vivax-infected reticulocytes, we developed a flow cytometry-based assay to measure osmotic stability within characteristically heterogeneous reticulocyte and P. vivax-infected ... Read more >>

Nat Commun (Nature communications)
[2021, 12(1):1629]

Cited: 1 time

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Less (Fe) is more (Hb) in SCA.

Carlo Brugnara,

Blood (Blood)
[2021, 137(11):1446-1447]

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Haemoglobin response to senicapoc in patients with sickle cell disease: a re-analysis of the Phase III trial.

Kenneth I Ataga, Steven J Staffa, Carlo Brugnara, Jonathan W Stocker,

Br J Haematol (British journal of haematology)
[2021, 192(5):e129-e132]

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Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.

Yann Ilboudo, Melanie E Garrett, Pablo Bartolucci, Carlo Brugnara, Clary B Clish, Joel N Hirschhorn, Frédéric Galactéros, Allison E Ashley-Koch, Marilyn J Telen, Guillaume Lettre,

In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To support this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolites in the plasma of 705 SCD patients. We tested correlations between metabolite levels ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2021, 86:102504]

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Plasmodium vivax infection compromises reticulocyte stability.

Martha Clark, Usheer Kanjee, Gabriel Rangel, Laura Chery, Anjali Mascarenhas, Edwin Gomes, Pradipsinh Rathod, Carlo Brugnara, Marcello Ferreira, Manoj Duraisingh,

The structural integrity of the host red blood cell (RBC) must be maintained for propagation of Plasmodium spp. during the disease causing blood-stage of malaria infection. Plasmodium vivax infection is restricted to reticulocytes. To assess the impact of P. vivax infection on reticulocyte stability, we developed a flow cytometry-based assay ... Read more >>

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Single cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations

David Zemmour, Louis-Marie Charbonnier, Juliette Leon, Emmanuelle Six, Sevgi Keles, Marianne Delville, Safa Baris, Julien Zuber, Karin Chen, Benedicte Neven, Maria Garcia-Lloret, Franck Ruemmele, Carlo Brugnara, Nadine Cerf-Bensussan, Frederic Rieux-Laucat, Marina Cavazzana, Isabelle André, Talal Chatila, Diane Mathis, Christophe Benoist,

<h4>ABSTRACT</h4> FOXP3 deficiency in humans with IPEX syndrome and mice results in fatal systemic autoimmunity by altering regulatory T cell (Treg) physiology, but actual cellular and molecular mechanisms of disease are unclear, part because Treg surface markers may be unreliable in disease states. We used deep profiling by flow cytometry, ... Read more >>

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Pediatric hematology normal ranges derived from pediatric primary care patients.

Steven J Staffa, Jill D Joerger, Erick Henry, Robert D Christensen, Carlo Brugnara, David Zurakowski,

Am J Hematol (American journal of hematology)
[2020, :]

Cited: 2 times

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Association of Blood Type With Postsurgical Mucosal Bleeding in Pediatric Patients Undergoing Tonsillectomy With or Without Adenoidectomy.

Natasha M Archer, Peter W Forbes, Jenna Dargie, Juliana Manganella, Greg R Licameli, Margaret A Kenna, Carlo Brugnara,

<h4>Importance</h4>Blood type (BT) O has been identified as a risk factor for bleeding complications, while non-O BTs may increase risk for thromboembolic events. Limited data are available in children undergoing tonsillectomy with or without adenoidectomy.<h4>Objective</h4>To determine whether BT O is associated with hemorrhage after tonsillectomy with or without adenoidectomy.<h4>Design, setting, ... Read more >>

JAMA Netw Open (JAMA network open)
[2020, 3(3):e201804]

Cited: 1 time

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Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

Yann Iboudo, Melanie Garrett, Pablo Bartolucci, Carlo Brugnara, Clary Clish, Joel Hirschhorn, Frédéric Galactéros, Allison Ashley-Koch, Marilyn Telen, Guillaume Lettre,

<h4>ABSTRACT</h4> In a recent clinical trial, the metabolite L-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To confirm this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolites in the plasma of 705 SCD patients. We tested correlations between metabolite ... Read more >>

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Non-Parametric Combined Reference Regions and Prediction of Clinical Risk.

Roy Malka, Carlo Brugnara, Ron Cialic, John M Higgins,

<h4>Background</h4>Many clinical decisions depend on estimating patient risk of clinical outcomes by interpreting test results relative to reference intervals, but standard application of reference intervals suffers from two major limitations that reduce the accuracy of clinical decisions: (1) each test result is assessed separately relative to a univariate reference interval, ... Read more >>

Clin Chem (Clinical chemistry)
[2020, 66(2):363-372]

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Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.

Boris E Shmukler, Alicia Rivera, Parul Bhargava, Katherine Nishimura, Edward H Kim, Ann Hsu, Jay G Wohlgemuth, James Morton, L Michael Snyder, Lucia De Franceschi, Marco B Rust, Christian A Hubner, Carlo Brugnara, Seth L Alper,

β-thalassemia (β-Thal) is caused by defective β-globin production leading to globin chain imbalance, aggregation of free alpha chain in developing erythroblasts, reticulocytes, and mature circulating red blood cells. The hypochromic thalassemic red cells exhibit increased cell dehydration in association with elevated K<sup>+</sup> leak and increased K-Cl cotransport activity, each of ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2020, 81:102389]

Cited: 2 times

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Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346.

Boris E Shmukler, Alicia Rivera, Parul Bhargava, Katherine Nishimura, Ann Hsu, Edward H Kim, Marie Trudel, Marco B Rust, Christian A Hubner, Carlo Brugnara, Seth L Alper,

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2020, 81:102390]

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Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of β-thalassemia.

Alessandro Matte, Enrica Federti, Michael Winter, Annette Koerner, Anja Harmeier, Norman Mazer, Tomas Tomka, Maria Luisa Di Paolo, Luigia De Falco, Immacolata Andolfo, Elisabetta Beneduce, Achille Iolascon, Alejandra Macias-Garcia, Jane-Jane Chen, Anne Janin, Christhophe Lebouef, Franco Turrini, Carlo Brugnara, Lucia De Franceschi,

Anemia of β-thalassemia is caused by ineffective erythropoiesis and reduced red cell survival. Several lines of evidence indicate that iron/heme restriction is a potential therapeutic strategy for the disease. Glycine is a key initial substrate for heme and globin synthesis. We provide evidence that bitopertin, a glycine transport inhibitor administered ... Read more >>

JCI Insight (JCI insight)
[2019, 4(22):]

Cited: 3 times

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Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease.

Boris E Shmukler, Alicia Rivera, Parul Bhargava, Katherine Nishimura, Ann Hsu, Edward H Kim, Marie Trudel, Marco B Rust, Christian A Hubner, Carlo Brugnara, Seth L Alper,

Excessive red cell dehydration contributes to the pathophysiology of sickle cell disease (SCD). The densest fraction of sickle red cells (with the highest corpuscular hemoglobin concentration) undergoes the most rapid polymerization of deoxy-hemoglobin S, leading to accelerated cell sickling and increased susceptibility to endothelial activation, red cell adhesion, and vaso-occlusion. ... Read more >>

Blood Cells Mol Dis (Blood cells, molecules & diseases)
[2019, 79:102346]

Cited: 3 times

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Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.

Alicia Rivera, David H Vandorpe, Boris E Shmukler, Immacolata Andolfo, Achille Iolascon, Natasha M Archer, Estela Shabani, Michael Auerbach, Nelson Hamerschlak, James Morton, Jay G Wohlgemuth, Carlo Brugnara, L Michael Snyder, Seth L Alper,

Hereditary xerocytosis (HX) is caused by missense mutations in either the mechanosensitive cation channel PIEZO1 or the Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4. All HX-associated KCNN4 mutants studied to date have revealed increased current magnitude and red cell dehydration. Baseline KCNN4 activity was increased in HX red cells heterozygous for KCNN4 mutant ... Read more >>

Am J Physiol Cell Physiol (American journal of physiology. Cell physiology)
[2019, 317(2):C287-C302]

Cited: 4 times

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