Literature DB >> 24115432

Genetics. GWAS to therapy by genome edits?

Ross C Hardison1, Gerd A Blobel.   

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Year:  2013        PMID： 24115432      PMCID： PMC4500047          DOI： 10.1126/science.1245813

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  14 in total

1.  A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin.

Authors:  V M INGRAM
Journal:  Nature       Date:  1956-10-13       Impact factor: 49.962

Review 2.  Severity, pathobiology, epistatic effects, and genetic markers in sickle cell anemia.

Authors:  R L Nagel
Journal:  Semin Hematol       Date:  1991-07       Impact factor: 3.851

3.  Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

Authors:  Vijay G Sankaran; Tobias F Menne; Jian Xu; Thomas E Akie; Guillaume Lettre; Ben Van Handel; Hanna K A Mikkola; Joel N Hirschhorn; Alan B Cantor; Stuart H Orkin
Journal:  Science       Date:  2008-12-04       Impact factor: 47.728

4.  Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia.

Authors:  Marina Cavazzana-Calvo; Emmanuel Payen; Olivier Negre; Gary Wang; Kathleen Hehir; Floriane Fusil; Julian Down; Maria Denaro; Troy Brady; Karen Westerman; Resy Cavallesco; Beatrix Gillet-Legrand; Laure Caccavelli; Riccardo Sgarra; Leila Maouche-Chrétien; Françoise Bernaudin; Robert Girot; Ronald Dorazio; Geert-Jan Mulder; Axel Polack; Arthur Bank; Jean Soulier; Jérôme Larghero; Nabil Kabbara; Bruno Dalle; Bernard Gourmel; Gérard Socie; Stany Chrétien; Nathalie Cartier; Patrick Aubourg; Alain Fischer; Kenneth Cornetta; Frédéric Galacteros; Yves Beuzard; Eliane Gluckman; Frederick Bushman; Salima Hacein-Bey-Abina; Philippe Leboulch
Journal:  Nature       Date:  2010-09-16       Impact factor: 49.962

5.  Bcl11a is essential for normal lymphoid development.

Authors:  Pentao Liu; Jonathan R Keller; Mariaestela Ortiz; Lino Tessarollo; Rivka A Rachel; Takuro Nakamura; Nancy A Jenkins; Neal G Copeland
Journal:  Nat Immunol       Date:  2003-04-28       Impact factor: 25.606

6.  Breaking the code of DNA binding specificity of TAL-type III effectors.

Authors:  Jens Boch; Heidi Scholze; Sebastian Schornack; Angelika Landgraf; Simone Hahn; Sabine Kay; Thomas Lahaye; Anja Nickstadt; Ulla Bonas
Journal:  Science       Date:  2009-12-11       Impact factor: 47.728

7.  RNA-guided human genome engineering via Cas9.

Authors:  Prashant Mali; Luhan Yang; Kevin M Esvelt; John Aach; Marc Guell; James E DiCarlo; Julie E Norville; George M Church
Journal:  Science       Date:  2013-01-03       Impact factor: 47.728

8.  Developmental and species-divergent globin switching are driven by BCL11A.

Authors:  Vijay G Sankaran; Jian Xu; Tobias Ragoczy; Gregory C Ippolito; Carl R Walkley; Shanna D Maika; Yuko Fujiwara; Masafumi Ito; Mark Groudine; M A Bender; Philip W Tucker; Stuart H Orkin
Journal:  Nature       Date:  2009-08-05       Impact factor: 49.962

9.  Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

Authors:  Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N Hirschhorn; Stuart H Orkin; Gonçalo R Abecasis; David Schlessinger; Antonio Cao
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-01       Impact factor: 11.205

10.  A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Authors:  Stephan Menzel; Chad Garner; Ivo Gut; Fumihiko Matsuda; Masao Yamaguchi; Simon Heath; Mario Foglio; Diana Zelenika; Anne Boland; Helen Rooks; Steve Best; Tim D Spector; Martin Farrall; Mark Lathrop; Swee Lay Thein
Journal:  Nat Genet       Date:  2007-09-02       Impact factor: 38.330
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  8 in total

1.  Reactivation of developmentally silenced globin genes by forced chromatin looping.

Authors:  Wulan Deng; Jeremy W Rupon; Ivan Krivega; Laura Breda; Irene Motta; Kristen S Jahn; Andreas Reik; Philip D Gregory; Stefano Rivella; Ann Dean; Gerd A Blobel
Journal:  Cell       Date:  2014-08-14       Impact factor: 41.582

Review 2.  Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.

Authors:  Daniel E Bauer; Stuart H Orkin
Journal:  Curr Opin Genet Dev       Date:  2015-09-14       Impact factor: 5.578

Review 3.  MOLECULAR MEDICINE: Found in Translation.

Authors:  Stuart H Orkin
Journal:  Med (N Y)       Date:  2021-01-12

4.  BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.

Authors:  Matthew C Canver; Elenoe C Smith; Falak Sher; Luca Pinello; Neville E Sanjana; Ophir Shalem; Diane D Chen; Patrick G Schupp; Divya S Vinjamur; Sara P Garcia; Sidinh Luc; Ryo Kurita; Yukio Nakamura; Yuko Fujiwara; Takahiro Maeda; Guo-Cheng Yuan; Feng Zhang; Stuart H Orkin; Daniel E Bauer
Journal:  Nature       Date:  2015-09-16       Impact factor: 49.962

5.  Functional interpretation of non-coding sequence variation: concepts and challenges.

Authors:  Dirk S Paul; Nicole Soranzo; Stephan Beck
Journal:  Bioessays       Date:  2013-12-05       Impact factor: 4.345

6.  Comparative analysis of three-dimensional chromosomal architecture identifies a novel fetal hemoglobin regulatory element.

Authors:  Peng Huang; Cheryl A Keller; Belinda Giardine; Jeremy D Grevet; James O J Davies; Jim R Hughes; Ryo Kurita; Yukio Nakamura; Ross C Hardison; Gerd A Blobel
Journal:  Genes Dev       Date:  2017-09-15       Impact factor: 11.361

Review 7.  Systematic integration of GATA transcription factors and epigenomes via IDEAS paints the regulatory landscape of hematopoietic cells.

Authors:  Ross C Hardison; Yu Zhang; Cheryl A Keller; Guanjue Xiang; Elisabeth F Heuston; Lin An; Jens Lichtenberg; Belinda M Giardine; David Bodine; Shaun Mahony; Qunhua Li; Feng Yue; Mitchell J Weiss; Gerd A Blobel; James Taylor; Jim Hughes; Douglas R Higgs; Berthold Göttgens
Journal:  IUBMB Life       Date:  2019-11-25       Impact factor: 3.885

8.  Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes.

Authors:  Nathalie Chami; Guillaume Lettre
Journal:  Genes (Basel)       Date:  2014-01-27       Impact factor: 4.096
  8 in total

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