Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Orah S. Platt"'
Autor:
Angela Siciliano, Giorgio Malpeli, Orah S. Platt, Christophe Lebouef, Anne Janin, Aldo Scarpa, Oliviero Olivieri, Eliana Amato, Roberto Corrocher, Yves Beuzard, Lucia De Franceschi
Publikováno v:
Haematologica, Vol 96, Iss 1 (2011)
Background Sickle cell disease, a genetic red cell disorder inherited in an autosomal recessive manner, occurs throughout the world. Hepatic dysfunction and liver damage may be present in sickle cell disease, but the pathogenesis of these conditions
Externí odkaz:
https://doaj.org/article/da81f3d69c9447d4b6e50c3302fc8c66
Autor:
Caroline Barau, Frédéric Galactéros, Pablo Bartolucci, Carlo Brugnara, Stéphane Moutereau, Orah S. Platt, Anoosha Habibi, Bouchra Badaoui, Jugurtha Berkenou, Vijay G. Sankaran, Isabel R. Fulcher, Erik L. Bao, Michael C. Mahaney, Caleb A. Lareau
Publikováno v:
Am J Hematol
Sickle cell disease (SCD) is the most common monogenic disorder in the world. Notably, there is extensive clinical heterogeneity in SCD that cannot be fully accounted for by known factors, and in particular, the extent to which the phenotypic diversi
Autor:
Orah S. Platt
Publikováno v:
Genetically Abnormal Red Cells ISBN: 9780429263996
Genetically Abnormal Red Cells
Genetically Abnormal Red Cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4968279f311cf2540d78ac4a45582587
https://doi.org/10.1201/9780429263996-6
https://doi.org/10.1201/9780429263996-6
Autor:
Bai-Lin Wu, David T. Miller, Orah S. Platt, Yiping Shen, Yongguo Yu, James F. Gusella, Haitao Zhu
Publikováno v:
Journal of Genetics and Genomics. 38:403-409
Recurrent genomic imbalances at 16p11.2 are genetic risk factors of variable penetrance for developmental delay and autism. Recently, 16p11.2 (chr16:29.5 Mb–30.1 Mb) deletion has also been detected in individuals with early-onset severe obesity. Th
Autor:
Xin Liu, David T. Miller, Fei Yu, Yongyi Yuan, Huijun Yuan, Hong Shao, Deliang Huang, Dongyang Kang, Bing Han, Orah S. Platt, Jia He, Qingwen Zhu, Pu Dai, Bai-Lin Wu, Qi Li, Dongyi Han
Publikováno v:
Genetics in Medicine. 10:586-592
Purpose: Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas of China, genetic testing for sensorineural hearing loss is unavailable because of limited
Autor:
Orah S. Platt
Publikováno v:
New England Journal of Medicine. 358:1362-1369
An 18-year-old woman with sickle cell anemia presents with recurrent painful crises, and treatment with hydroxyurea is recommended. Hydroxyurea causes a shift toward the production of red cells containing fetal hemoglobin. A possible increase in the
Autor:
Carlo Brugnara, Weidong Zhang, Gary A. Churchill, Orah S. Platt, Luanne L. Peters, Amy J. Lambert
Publikováno v:
Mammalian Genome. 17:298-309
A substantial genetic contribution underlies variation in baseline peripheral blood counts. We performed quantitative trait locus/loci (QTL) analyses to identify chromosome (Chr) regions harboring genes influencing the baseline erythroid parameters i
Autor:
Luanne L. Peters, Amy J. Lambert, Carlo Brugnara, Gary A. Churchill, Orah S. Platt, Weidong Zhang
Publikováno v:
Mammalian Genome. 16:749-763
A substantial genetic contribution to baseline peripheral blood counts has been established. We performed quantitative trait locus/loci (QTL) analyses to identify chromosome (Chr) regions harboring genes influencing the baseline white blood cell (WBC
Publikováno v:
Blood. 106:1210-1214
Interperson differences in peripheral blood cell counts in healthy individuals result from genetic and environmental influences. We used multivariate genetic analyses to assess the relative impact of genes and environment on baseline blood cell count
Publikováno v:
Journal of Biological Chemistry. 278:39565-39571
Hemoglobin function can be modulated by the red cell membrane but some mechanistic details are incomplete. For example, the 43-kDa chymotryptic fragment of the cytoplasmic portion of red cell membrane Band 3 protein and its corresponding N-terminal 1