Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Hemoglobins, Abnormal/*genetics"'
BACKGROUND: β-Globin gene cluster haplotypes associated with the Hb D-Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::b640c5b4d30c14511c1bf55abcdeaa0d
Autor:
Dominique Velin, Mati Moyat
Publikováno v:
Toxins, Vol 8, Iss 6, p 181 (2016)
Toxins, vol. 8, no. 6, pp. 725-730
Toxins
Toxins, vol. 8, no. 6, pp. 725-730
Toxins
One of the major toxins secreted by H. pylori is the Vacuolating cytotoxin A (VacA) named after its ability to induce the formation of "vacuole"-like membrane vesicles in the cytoplasm of gastric cells. VacA has been associated with the disruption of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddfc037db715f9290f0f26f12a4dc6b8
http://www.mdpi.com/2072-6651/8/6/181
http://www.mdpi.com/2072-6651/8/6/181
OBJECTIVE: Understanding the genetic origin of the Hb D-Los Angeles hemoglobin may elucidate population interactions such as movements, migrations, and environmental effects on mutation mechanisms in human biology throughout history. Our study aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::79ac743da50b23338c84a1f8f7e3222c
Publikováno v:
Archives of Iranian Medicine
Archives of Iranian Medicine, Academy of Medical Sciences of the I.R. Iran, 2012, 15 (9), pp.564-567
Archives of Iranian Medicine, Academy of Medical Sciences of the I.R. Iran, 2012, 15 (9), pp.564-567
International audience; BACKGROUND: This study was carried out to identify molecular and hematological features of α- globin chain variants and to evaluate their effects on the clinical and hematological characteristics in Iranian individuals suspec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ab8a8e9cabfaab6981aeb3767fbdf95
https://pubmed.ncbi.nlm.nih.gov/22924376
https://pubmed.ncbi.nlm.nih.gov/22924376
Autor:
Sjaak Philipsen, Petros Papadopoulos, Annemieke J.M.H. Verkerk, Godfrey Grech, Marianthi Georgitsi, Alex E. Felice, Frank Grosveld, Ruth Galdies, Wilhelmina Cassar, Nynke Gillemans, Pavlos Fanis, Marieke von Lindern, Jun Hou, Peter J. van der Spek, Joseph Borg, Marisa Bugeja, Christian Scerri, Laura Gutierrez, Zeliha Ozgur, Marios Phylactides, George P. Patrinos, Wilfred F. J. van IJcken
Publikováno v:
EUR Research Portal
Nature genetics, 42(9), 801-805. Nature Publishing Group
Nature genetics
Nature Genetics, 42(9), 801-U100. Nature Publishing Group
Nature Genetics; Vol 42
Nature genetics, 42(9), 801-805. Nature Publishing Group
Nature genetics
Nature Genetics, 42(9), 801-U100. Nature Publishing Group
Nature Genetics; Vol 42
Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors, both genetic and environmental, have been identified but others remain elusive. HPFH was f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476f8a6e70f6673c16c4ca7f08076ce1
Autor:
Ayfer Atalay, Erol Ömer Atalay, Anzel Özkan, Aylin Köseler, Hasan Koyuncu, Onur Öztürk, Sanem Demirtepe
Objective: To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. Materials and Methods: Genomic DNA was obtained from the 4 members o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b07e8297039bcadb2cd160418e7777a
Hb D-Los Angeles (also known as D-Punjab, D-North Carolina, D-Portugal, D-Chicago and Oak Ridge) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta-globin gene. The origin and spread
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3566::6425676b8c070d71cf7897575b8c1a23
Background: The thalassaemias are the commonest blood disorders worldwide, with South East Asia and southern China as areas of high prevalence. Accurate diagnosis of these disorders helps in clinical management with improved outcome. Methods: The α-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a55e73e35255499ba550e25e8b07d4
https://europepmc.org/articles/PMC1994485/
https://europepmc.org/articles/PMC1994485/
Publikováno v:
Fetal diagnosis and therapy. 21(6)
Objective: To perform a reliable non-invasive prenatal detection of the Hb Lepore paternal mutation and determine the fetal gender in the first trimester of pregnancy. Methods: DNAwas extracted from a serum sample obtained from a pregnant womanat the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::705c3327a4dc8a90e52111e2047faf51
https://pubmed.ncbi.nlm.nih.gov/16969004
https://pubmed.ncbi.nlm.nih.gov/16969004