C
Carlo Brugnara
Researcher at Boston Children's Hospital
Publications - 348
Citations - 20837
Carlo Brugnara is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Red blood cell & Iron deficiency. The author has an hindex of 76, co-authored 333 publications receiving 19351 citations. Previous affiliations of Carlo Brugnara include Albert Einstein College of Medicine & University of Kansas.
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Journal ArticleDOI
Physiological Roles of the Intermediate Conductance, Ca2+-activated Potassium Channel Kcnn4
Ted Begenisich,Tesuji Nakamoto,Catherine E. Ovitt,Keith Nehrke,Carlo Brugnara,Carlo Brugnara,Seth L. Alper,James E. Melvin +7 more
TL;DR: The role of IK channels in water movement and subsequent volume changes in red blood cells and T lymphocytes is also confirmed in this article, which is a contributing factor in the pathophysiology of sickle cell disease.
Journal ArticleDOI
A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy
Kenneth R. Bridges,G. D. Barabino,Carlo Brugnara,Michael Cho,G. W. Christoph,George J. Dover,Bruce M. Ewenstein,David E. Golan,Charles R.G. Guttmann,James Hofrichter,Robert V. Mulkern,B. Zhang,William A. Eaton +12 more
TL;DR: Hydroxyurea shifted several biochemical and biophysical parameters of sickle erythrocytes toward values observed with hemoglobin SC disease, suggesting that hydroxyurea moderates sickle cell disease toward the milder, but still clinically significant, hemoglobinSC disease.
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Preliminary Assessment of Inhaled Nitric Oxide for Acute Vaso-occlusive Crisis in Pediatric Patients With Sickle Cell Disease
Debra L. Weiner,Patricia L. Hibberd,Peter Betit,Andrew B. Cooper,Christine Botelho,Carlo Brugnara +5 more
TL;DR: Results of this exploratory study suggest that INO may be beneficial for acute vaso-occlusive crisis in pediatric patients.
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Autosomal Dominant Distal Renal Tubular Acidosis Is Associated in Three Families With Heterozygosity for the R589H Mutation in the AE1 (Band 3) Cl-/HCO3- Exchanger
Petr Jarolim,Petr Jarolim,Petr Jarolim,Chairat Shayakul,Chairat Shayakul,Daniel Prabakaran,Lianwei Jiang,Alan K. Stuart-Tilley,H. L. Rubin,Sarka Simova,Jiri Zavadil,John T. Herrin,John Brouillette,Michael J. Somers,Eva Seemanova,Carlo Brugnara,Lisa M. Guay-Woodford,Seth L. Alper +17 more
TL;DR: The heterozygous hypomorphic AE1 mutation R589H is associated with dominant dRTA and normal red cells and does not display a dominant negative phenotype for anion transport when coexpressed with wild-type AE1.
Journal ArticleDOI
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
Voravarn S. Tanphaichitr,Achra Sumboonnanonda,Hiroshi Ideguchi,Chairat Shayakul,Carlo Brugnara,Mayumi Takao,Gavivann Veerakul,Seth L. Alper +7 more
TL;DR: The genetic and functional data both suggest that the homozygous AE1 G701D mutation causes recessively transmitted dRTA in this kindred with apparently normal erythroid anion transport.