Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Overhydrated hereditary stomatocytosis"'
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; Volume 23; Issue 16; Pages: 9401
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecff173bad19923301a16cf0ff03565
https://pubmed.ncbi.nlm.nih.gov/36012667
https://pubmed.ncbi.nlm.nih.gov/36012667
Akademický článek
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Publikováno v:
British Journal of Haematology. 187:13-24
Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa3dc683a934f7d643fe5702ae73ca1
https://doi.org/10.1111/bjh.16126
https://doi.org/10.1111/bjh.16126
Autor:
Immacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Barbara Eleni Rosato, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Achille Iolascon
Publikováno v:
Frontiers in Physiology
Frontiers in Physiology, Vol 10 (2019)
Frontiers in Physiology, Vol 10 (2019)
PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with altera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::755db22acd074d96c948dc425334be76
http://europepmc.org/articles/PMC6428731
http://europepmc.org/articles/PMC6428731
Publikováno v:
Hematopathology ISBN: 9789811377129
Inherited red cell membrane disorders constitute a diverse group of disorders which are characterized by wide clinical and molecular heterogeneity. They are nonimmune hereditary hemolytic anemia, and patients present with variable degrees of pallor,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cdca59908fb8ccf1bc542239ebe4e36f
https://doi.org/10.1007/978-981-13-7713-6_5
https://doi.org/10.1007/978-981-13-7713-6_5
Autor:
Manu Jamwal, Reena Das, Prashant Sharma, Deepak Bansal, Anu Aggarwal, Arindam Maitra, Pankaj Malhotra
Publikováno v:
Blood. 132:2326-2326
Introduction Stomatocytes in peripheral blood are pathognomonic findings in multiple conditions along with hemolysis and reticulocytosis, often suggestive of erythrocyte membrane transport defects. These uncommon disorders are usually difficult to di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3efca76bf332e387aacb20bd49e9100
https://doi.org/10.1182/blood-2018-99-114554
https://doi.org/10.1182/blood-2018-99-114554
Autor:
Pietro Izzo, Rosa Anna Avvisati, Maria Rosaria Esposito, Franck Borgese, Carmelo Piscopo, Andrea Biondani, Achille Iolascon, Luigia De Falco, Lucia De Franceschi, Hélène Guizouarn, Antonella Pantaleo
Publikováno v:
Haematologica
Haematologica, Ferrata Storti Foundation, 2009, 94 (8), pp.1049-59. ⟨10.3324/haematol.2008.002873⟩
Haematologica, Ferrata Storti Foundation, 2009, 94 (8), pp.1049-59. ⟨10.3324/haematol.2008.002873⟩
International audience; BACKGROUND: Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4b794b1434357e64aefe49f967acb1
https://pubmed.ncbi.nlm.nih.gov/19644134
https://pubmed.ncbi.nlm.nih.gov/19644134
Autor:
Joyce Poole, Nicholas M. Burton, Lesley J. Bruce, Franck Borgese, Nicole Gabillat, Gordon W. Stewart, Joanna F. Flatt, Hélène Guizouarn, R. Leo Brady, Jean Delaunay
Publikováno v:
Blood. 113(6)
Overhydrated hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a profuse membrane leak to monovalent cations. Here, we show that OHSt red cell membranes contain slightly reduced amounts of Rh-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf29e4b555bc9c6fc88f33c23fb20c4
https://pubmed.ncbi.nlm.nih.gov/18931342
https://pubmed.ncbi.nlm.nih.gov/18931342
Autor:
Gordon W. Stewart, Mark Crawford, Ashley E. Garner, Edward T. Parkin, D. Katie Wilkinson, Nigel M. Hooper, E. Jane H. Turner, Penny J. Harrison
Publikováno v:
Biochimica et biophysica acta. 1778(1)
In overhydrated hereditary stomatocytosis (OHSt), the membrane raft-associated stomatin is deficient from the erythrocyte membrane. We have investigated two aspects of raft structure and function in OHSt erythrocytes. First, we have studied the distr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0245d950f8b9cca7586dd5e02c597cb
https://pubmed.ncbi.nlm.nih.gov/17961506
https://pubmed.ncbi.nlm.nih.gov/17961506
Publikováno v:
British journal of haematology. 131(2)
The 32 kD lipid-raft-associated membrane protein 'stomatin' is deficient from the erythrocyte membrane in the Na+-K+ leaky haemolytic anaemia, overhydrated hereditary stomatocytosis (OHSt). To date, no mutation in the gene coding for this protein has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b6603217469e3e1e816331e90bb0c73
https://pubmed.ncbi.nlm.nih.gov/16197460
https://pubmed.ncbi.nlm.nih.gov/16197460