Zobrazeno 1 - 10
of 373
pro vyhledávání: '"Hereditary stomatocytosis"'
Autor:
Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-5 (2020)
Abstract Background Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration
Externí odkaz:
https://doaj.org/article/4cffa2e594b240fcbaf72beb2d99d5ef
Akademický článek
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Autor:
Sarah Rougé, Sandrine Genetet, Maria Florencia Leal Denis, Michael Dussiot, Pablo Julio Schwarzbaum, Mariano Anibal Ostuni, Isabelle Mouro-Chanteloup
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 9401 (2022)
Pannexin 1 (PANX1) was proposed to drive ATP release from red blood cells (RBCs) in response to stress conditions. Stomatin, a membrane protein regulating mechanosensitive channels, has been proposed to modulate PANX1 activity in non-erythroid cells.
Externí odkaz:
https://doaj.org/article/17ed9e6f13094063b623ae8be3d506a3
Publikováno v:
International Journal of Hematology-Oncology and Stem Cell Research, Vol 14, Iss 3 (2020)
Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but in
Externí odkaz:
https://doaj.org/article/3964ae054a1745d9b31d5fb66be9f663
Autor:
Joanna F. Flatt, Christian J. Stevens-Hernandez, Nicola M. Cogan, Daniel J. Eggleston, Nicole M. Haines, Kate J. Heesom, Veronique Picard, Caroline Thomas, Lesley J. Bruce
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Southeast Asian Ovalocytosis results from a heterozygous deletion of 9 amino acids in the erythrocyte anion exchange protein AE1 (band 3). The report of the first successful birth of an individual homozygous for this mutation showed an association wi
Externí odkaz:
https://doaj.org/article/61e5e7b7869d4078a752b2031b4c052b
Akademický článek
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Publikováno v:
Italian Journal of Medicine, Vol 9, Iss 4, Pp 323-329 (2015)
Hemolytic anemia due to abnormalities of the erythrocyte membrane comprises an important group of inherited disorders. These include hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and the hereditary stomatocytosis
Externí odkaz:
https://doaj.org/article/681dfcdc577041c3b5d68f8dec85a6a0
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells
Autor:
Joanna F. Flatt, Lesley J. Bruce
Publikováno v:
Frontiers in Physiology, Vol 9 (2018)
Normal human RBCs have a very low basal permeability (leak) to cations, which is continuously corrected by the Na,K-ATPase. The leak is temperature-dependent, and this temperature dependence has been evaluated in the presence of inhibitors to exclude
Externí odkaz:
https://doaj.org/article/dc3c6e7c564a465b872ea7c91f541619
Akademický článek
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Publikováno v:
International Journal of Hematology-Oncology and Stem Cell Research
International Journal of Hematology-Oncology and Stem Cell Research, Vol 14, Iss 3 (2020)
International Journal of Hematology-Oncology and Stem Cell Research, Vol 14, Iss 3 (2020)
Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eaa097010cb648303a867484d0200f9
http://europepmc.org/articles/PMC7521390
http://europepmc.org/articles/PMC7521390