Výsledky vyhledávání - "J. G. Gilman"

The 12.6 kilobase DNA deletion in Dutch β°-thalassaemia

Autor: J. G. Gilman

Publikováno v: British Journal of Haematology. 67:369-372

The Dutch beta zero-thalassaemia has few clinical symptoms in homozygotes, elevated fetal haemoglobin (4-11%) in heterozygotes, and has a DNA deletion previously estimated as 10 kb which removes the beta-globin gene (Gilman et al, 1984). A DNA fragme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de973a008e144fcef6b2fd675ff176da
https://doi.org/10.1111/j.1365-2141.1987.00369.x

Zobrazit plný text záznamu

Sardinian Haplotype II ?0-Thalassemia Is Linked to the VariantA?T-Globin Gene with a 4-Bp Promoter Deletion and DiminishedA?TExpressionb

Autor: Laura Manca, J. G. Gilman, Elena Cocco, Domenico Pietro Paolo Gallisai, Bruno Lucio Masala

Publikováno v: Annals of the New York Academy of Sciences. 612:485-487

Several factors influence the severity of homozygous β-thalassemia: β-thalassemia intermedia (non-transfusion dependent) patients often have at least one β + -thalassemia allele with only moderate impairment of β-globin production. β-thalassemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c0d689e23e7b34de515bef95ff0926c
https://doi.org/10.1111/j.1749-6632.1990.tb24338.x

Zobrazit plný text záznamu

Fetal hemoglobin expression in compound heterozygotes for -117 (G--A)A gamma HPFH and beta zero 39 nonsense thalassemia

Autor: P, Pistidda, L, Frogheri, L, Oggiano, L, Guiso, L, Manca, F, Dore, B, Masala, J G, Gilman, M, Longinotti

Publikováno v: American journal of hematology. 49(4)

The -117(G--A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::09f64941e148d7fe0b77feef772883d9
https://pubmed.ncbi.nlm.nih.gov/7543730

Zobrazit plný text záznamu

Molecular cloning of mouse erythrocyte protein 4.2: a membrane protein with strong homology with the transglutaminase supergene family

Autor: J. G. Gilman, Robert S. Schwartz, Anne C. Rybicki, Judy J.-H. Qiu

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society. 5(7)

We report the molecular cloning and characterization of mouse erythrocyte protein 4.2 (P4.2). Mouse erythrocyte P4.2 is a 691-amino-acid protein with a predicted MW of 77 kDa. Northern blot analysis detected a 2.2-kb transcript in mouse reticulocytes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5da26ed6f88d6c9ab70750f937ce65e7
https://pubmed.ncbi.nlm.nih.gov/7919657

Zobrazit plný text záznamu

Diminished A gamma T fetal globin levels in Sardinian haplotype II beta 0-thalassaemia patients are associated with a four base pair deletion in the A gamma T promoter

Autor: L, Manca, E, Cocco, D, Gallisai, B, Masala, J G, Gilman

Publikováno v: British journal of haematology. 78(1)

In Sardinia, the beta-39 nonsense mutation is the primary cause of beta 0-thalassaemia. This mutation is found mainly on beta-globin gene cluster haplotypes I and II, which differ in their A gamma globin types (A gamma I and A gamma T, respectively).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d4bfc5357baaf39b615cd8f79c5ab4c
https://pubmed.ncbi.nlm.nih.gov/1710478

Zobrazit plný text záznamu

Two independent genetic factors in the beta-globin gene cluster are associated with high G gamma-levels in the HbF of SS patients

Autor: J G, Gilman, T H, Huisman

Publikováno v: Blood. 64:452-457

The gamma-chains of fetal hemoglobin (HbF) of newborn babies are composed of about 70% G gamma and 30% A gamma. In most babies, the G gamma value declines postnatally to 40%, but in about 20% of black SS patients from Georgia, 5 years and older, the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c11af4c4ac8eae627ee3b152d61c20
https://doi.org/10.1182/blood.v64.2.452.bloodjournal642452

Zobrazit plný text záznamu

Rat Hemoglobin Heterogeneity: Postnatal Changes in Proportions of Multiple Components and Effects of Erythropoietin on Marrow Cell Cultures

Autor: M. C. Datta, J. G. Gilman

Publikováno v: Hemoglobin. 5:701-714

Hemolysate from adult and newborn rats was fractionated into nine components (I-IX) using DEAE-cellulose chromatography. A subsequent chromatographic step resolved component IV into two, IVa and Ivb. A comparison of adult and newborn rat hemolysates

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7550b215eee0eb3a49aaf2d2194d2ad6
https://doi.org/10.3109/03630268108991838

Zobrazit plný text záznamu

The Ratio of theG? andA? Chains: Variations due to Anomalies at the Molecular Level

Autor: M. B. Gardiner, T. Harano, Titus H.J. Huisman, I. Bakioglu, J. G. Gilman, T. Nakatsuji, A. L. Reese

Publikováno v: Annals of the New York Academy of Sciences. 445:235-247

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fb4f078c58043b0ee80ad3e15e8eea93
https://doi.org/10.1111/j.1749-6632.1985.tb17193.x

Zobrazit plný text záznamu

Four base-pair DNA deletion in humanAγ globin-gene promoter associated with lowAγ expression in adults

Autor: M E Johnson, J. G. Gilman, N. Mishima

Publikováno v: British Journal of Haematology. 68:455-458

Fetal haemoglobin (alpha 2 gamma 2) is predominant in red cells of the fetus and newborn baby, and is largely replaced after birth by adult haemoglobin (alpha 2 beta 2). The two types of gamma chains (A gamma and G gamma) are generally less than 1% o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::904e7c1127faa74c409f7e00916a131a
https://doi.org/10.1111/j.1365-2141.1988.tb04235.x

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání