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Literature DB >> 27132276

Next generation research and therapy in red blood cell diseases.

Roberta Russo¹, Immacolata Andolfo¹, Achille Iolascon².

Abstract

Mesh：

Year: 2016 PMID： 27132276 PMCID： PMC5004366 DOI： 10.3324/haematol.2015.139238

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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18 in total

1. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Authors: Immacolata Andolfo; Roberta Russo; Francesco Manna; Boris E Shmukler; Antonella Gambale; Giuseppina Vitiello; Gianluca De Rosa; Carlo Brugnara; Seth L Alper; L Michael Snyder; Achille Iolascon
Journal: Am J Hematol Date: 2015-10 Impact factor: 10.047

2. A mutation in the Gardos channel is associated with hereditary xerocytosis.

Authors: Raphael Rapetti-Mauss; Caroline Lacoste; Véronique Picard; Corinne Guitton; Elise Lombard; Marie Loosveld; Vanessa Nivaggioni; Nathalie Dasilva; David Salgado; Jean-Pierre Desvignes; Christophe Béroud; Patrick Viout; Monique Bernard; Olivier Soriani; Henri Vinti; Valérie Lacroze; Madeleine Feneant-Thibault; Isabelle Thuret; Hélène Guizouarn; Catherine Badens
Journal: Blood Date: 2015-07-06 Impact factor: 22.113

Review 3. CRISPR-Cas9: a new and promising player in gene therapy.

Authors: Lu Xiao-Jie; Xue Hui-Ying; Ke Zun-Ping; Chen Jin-Lian; Ji Li-Juan
Journal: J Med Genet Date: 2015-02-24 Impact factor: 6.318

Review 4. Gene therapy through autologous transplantation of gene-modified hematopoietic stem cells.

Authors: Donald B Kohn; Sung-Yun Pai; Michel Sadelain
Journal: Biol Blood Marrow Transplant Date: 2012-09-29 Impact factor: 5.742

5. Stable in vivo expression of glucose-6-phosphate dehydrogenase (G6PD) and rescue of G6PD deficiency in stem cells by gene transfer.

Authors: A Rovira; M De Angioletti; O Camacho-Vanegas; D Liu; V Rosti; H F Gallardo; R Notaro; M Sadelain; L Luzzatto
Journal: Blood Date: 2000-12-15 Impact factor: 22.113

6. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Authors: Ryan Zarychanski; Vincent P Schulz; Brett L Houston; Yelena Maksimova; Donald S Houston; Brian Smith; Jesse Rinehart; Patrick G Gallagher
Journal: Blood Date: 2012-04-23 Impact factor: 22.113

7. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Authors: Edyta Glogowska; Kimberly Lezon-Geyda; Yelena Maksimova; Vincent P Schulz; Patrick G Gallagher
Journal: Blood Date: 2015-07-21 Impact factor: 22.113

8. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Authors: Darío G Lupiáñez; Katerina Kraft; Verena Heinrich; Peter Krawitz; Francesco Brancati; Eva Klopocki; Denise Horn; Hülya Kayserili; John M Opitz; Renata Laxova; Fernando Santos-Simarro; Brigitte Gilbert-Dussardier; Lars Wittler; Marina Borschiwer; Stefan A Haas; Marco Osterwalder; Martin Franke; Bernd Timmermann; Jochen Hecht; Malte Spielmann; Axel Visel; Stefan Mundlos
Journal: Cell Date: 2015-05-07 Impact factor: 41.582

Next generation research and therapy in red blood cell diseases.

1. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

2. A mutation in the Gardos channel is associated with hereditary xerocytosis.

Review 3. CRISPR-Cas9: a new and promising player in gene therapy.

Review 4. Gene therapy through autologous transplantation of gene-modified hematopoietic stem cells.

5. Stable in vivo expression of glucose-6-phosphate dehydrogenase (G6PD) and rescue of G6PD deficiency in stem cells by gene transfer.

6. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

7. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

8. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

9. Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

10. Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac.

Review 1. Diagnostic approaches for inherited hemolytic anemia in the genetic era.

2. [Clinical features of hereditary stomatocytosis: 12 cases report and literatures review].