Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Jt, Prchal"'
Autor:
Re, Dickinson, Milne P, Jardine L, Zandi S, Si, Swierczek, McGovern N, Cookson S, Ferozepurwalla Z, Langridge A, Pagan S, Gennery A, Heiskanen-Kosma T, Hämäläinen S, Seppänen M, Helbert M, Tholouli E, Gambineri E, Reykdal S, Gottfreðsson M, Je, Thaventhiran, Morris E, Hirschfield G, Ag, Richter, Jolles S, Cm, Bacon, Hambleton S, Haniffa M, Yenan Bryceson, Allen C, Jt, Prchal, Je, Dick, Bigley V, Collin M
Publikováno v:
Europe PubMed Central
Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this study, we describe a cross-sectional analysis of 24 patients and 6 relative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b7a98edae4a11514a102e33fe2e10fea
https://pubmed.ncbi.nlm.nih.gov/24345756
https://pubmed.ncbi.nlm.nih.gov/24345756
Autor:
M Belickova, Colin A. Sieff, Howard J. Weinstein, Lambert Busque, JT Prchal, Alan S. Wayne, L Sokol, JM Sokol, KS Zuckerman, D G Gilliland
Publikováno v:
Blood. 85:21-30
Juvenile chronic myelogenous leukemia (JCML) is a myeloproliferative disease in which morbidity and mortality are primarily caused by nonhematopoietic organ failure from myelomonocytic infiltration or by failure of the normal bone marrow. Morphologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9725b0120f2cc51c2564795db53841ac
https://doi.org/10.1182/blood.v85.1.21.bloodjournal85121
https://doi.org/10.1182/blood.v85.1.21.bloodjournal85121
Publikováno v:
Blood. 83:1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eec718d88c52b369403b6f5ce530813a
https://doi.org/10.1182/blood.v83.1.1.bloodjournal8311
https://doi.org/10.1182/blood.v83.1.1.bloodjournal8311
Publikováno v:
Blood. 80:523-529
Protein 4.2 is a major red blood cell (RBC) protein that interacts with the band 3 protein and with ankyrin. Inherited deficiencies of this protein are associated with spherocytic hemolytic anemia, but the molecular basis of this defect is unknown. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b92ca4470eb49ec92d5da2fadecd788
https://doi.org/10.1182/blood.v80.2.523.523
https://doi.org/10.1182/blood.v80.2.523.523
Autor:
I Rodriguez, Ferdane Kutlar, Brooke B. Webber, J. B. Wilson, JT Prchal, J. F. Codrington, J. M. De Pablos, Abdullah Kutlar, H. Hu, KM Hall
Publikováno v:
Blood. 75:1883-1887
Two unstable hemoglobins (Hbs) causing rather severe hemolytic anemia have been characterized. The beta chain of Hb Birmingham, found in an adult black man, is characterized by the loss of -Leu-Ala-His-Lys- at positions 141, 142, 143, and 144 and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::863c73306e999cc7a536fc8b0f70b3f2
https://doi.org/10.1182/blood.v75.9.1883.bloodjournal7591883
https://doi.org/10.1182/blood.v75.9.1883.bloodjournal7591883
Autor:
PD Emanuel, CJ Eaves, VC Broudy, T Papayannopoulou, MR Moore, AD D'Andrea, JF Prchal, AC Eaves, JT Prchal
Publikováno v:
Blood. 79(11)
Three families with polycythemia inherited through apparently different modes are described. Secondary causes of polycythemia were ruled out. Erythropoietin (EPO) levels were normal or low, even after phlebotomy. In vitro erythroid colony growth in s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbdff2a36a1cbd1d2b4b792d3fa58943
https://pubmed.ncbi.nlm.nih.gov/1316790
https://pubmed.ncbi.nlm.nih.gov/1316790
Publikováno v:
Blood. 80:255-256
Seven new mutations that produce glucose 6 phosphate dehydrogenase (G6PD) deficiency are described. Three are in variants that were biochemically characterized and described previously, while four were found in samples that had not been characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a967c10e98029d8105d5cdfa4c45c4
https://doi.org/10.1182/blood.v80.1.255.255
https://doi.org/10.1182/blood.v80.1.255.255
Publikováno v:
Blood. 73:592-595
The viscoelastic properties of the RBC membrane are in part determined by a submembrane network of proteins consisting of spectrin alpha beta heterodimers (SpD) assembled head-to-head to form spectrin tetramers (SpT) and spectrin oligomers (SpO). SpT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef134baea04d9b513c25aa2bfea5ef5f
https://doi.org/10.1182/blood.v73.2.592.bloodjournal732592
https://doi.org/10.1182/blood.v73.2.592.bloodjournal732592
Publikováno v:
Blood. 62:754-757
The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76367ec04b5712a3bea242c8e530d442
https://doi.org/10.1182/blood.v62.4.754.bloodjournal624754
https://doi.org/10.1182/blood.v62.4.754.bloodjournal624754
Publikováno v:
Blood. 74:2550-2555
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is probably the most common disease-producing genetic polymorphism of humans. Virtually all G6PD-deficient Africans show the G6PD A- phenotype, an electrophoretically rapid, deficient enzyme. The re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8946b234289eafeccff9ca6ff21698e6
https://doi.org/10.1182/blood.v74.7.2550.bloodjournal7472550
https://doi.org/10.1182/blood.v74.7.2550.bloodjournal7472550