for Specific Topics



References for Specific Topics


Arora N, Daley GQ. Pluripotent stem cells in research and treatment of hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2:a011841.


Bélanger-Quintana A, Burlina A, Harding CO, et al. Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metabolism. 2011;104:S19–S25.


Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science. 2013;341:1233158; 10.1126/science.1233158.


Cathomen T, Ehl S. Translating the genomic revolution—targeted genome editing in primates. N Engl J Med. 2014;370:2342–2345.


Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med. 2013;369(9):818–829.


Daley GQ. The promise and perils of stem cell therapeutics. Cell Stem Cell. 2012;10:740–749.


Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet. 2012;13:307–335.


de Souza N. Primer: genome editing with engineered nucleases. Nat Methods. 2012;9:27.


Dong A, Rivella S, Breda L. Gene therapy for hemoglobinopathies: progress and challenges. Trans Res. 2013;161:293–306.


Gaspar HB, Qasim W, Davies EG, et al. How I treat severe combined immunodeficiency. Blood. 2013;122:3749–3758.


Gaziev J, Lucarelli G. Hematopoietic stem cell transplantation for thalassemia. Curr Stem Cell Res Ther. 2011;6:162–169.


Goemans NM, Tulinius M, van den Akker JT. Systemic administration of PRO051 in Duchenne’s muscular dystrophy. N Engl J Med. 2011;364:1513–1522.


Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013;34:3491–3500.


Hanna JH, Saha K, Jaenisch R. Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues. Cell. 2010;143:508–525.


Hanrahan JW, Sampson HM, Thomas DY. Novel pharmacological strategies to treat cystic fibrosis. Trends Pharmacol Sci. 2013;34:119–125.


High KA. Gene therapy in clinical medicine. Longo D, Fauci A, Kasper D, et al. Harrison’s principles of internal medicine. ed 19. McGraw-Hill: New York; 2015 [in press].


Huang R, Southall N, Wang Y, et al. The NCGC Pharmaceutical Collection: A comprehensive resource of clinically approved drugs enabling repurposing and chemical genomics. Sci Transl Med. 2011;3:80ps16.


Jarmin S, Kymalainen H, Popplewell L, et al. New developments in the use of gene therapy to treat Duchenne muscular dystrophy. Expert Opin Biol Ther. 2014;14:209–230.


Johnson SM, Connelly S, Fearns C, et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory agency approved drug. J Mol Biol. 2012;421:185–203.


Li M, Suzuki K, Kim NY, et al. A cut above the rest: targeted genome editing technologies in human pluripotent stem cells. J Biol Chem. 2014;289:4594–4599.


Mukherjee S, Thrasher AJ. Gene therapy for primary immunodeficiency disorders: progress, pitfalls and prospects. Gene. 2013;525:174–181.


Nathwani AC, Tuddenham EGD, Rangarajan S. Adenovirus-associated virus vector–mediated gene transfer in hemophilia B. N Engl J Med. 2011;365:2357–2365.


Okam MM, Ebert BL. Novel approaches to the treatment of sickle cell disease: the potential of histone deacetylase inhibitors. Expert Rev Hematol. 2012;5:303–311.


Otsuru S, Gordon PL, Shimono K, et al. Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. Blood. 2012;120:1933–1941.


Peltz SW, Morsy M, Welch EW, et al. Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med. 2013;64:407–425.


Perrine SP, Pace BS, Faller DV. Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies. Hematol Oncol Clin North Am. 2014;28:233–248.


Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol. 2009;148:356–372.


Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365:1663–1672.


Robinton DA, Daley GQ. The promise of induced pluripotent stem cells in research and therapy. Nature. 2012;481:295–305.


Sander JD, Joung JK. CRISPR-Cas systems for editing, regulating and targeting genomes. Nat Biotechnol. 2014;32:347–355.


Southwell AL, Skotte NH, Bennett CF, et al. Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. Trends Mol Med. 2012;18:634–643.


Tebas P, Stein D, Tang WW, et al. Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV. N Engl J Med. 2014;370:901–910.


van Ommen G-JB, Aartsma-Rus A. Advances in therapeutic RNA-targeting. Trends Mol Med. 2012;18:634–643.


Verma IM. Gene therapy that works. Science. 2013;341:853–855.


Xu J, Peng C, Sankaran VG, et al. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011;334:993–996.

Only gold members can continue reading. Log In or Register to continue

Stay updated, free articles. Join our Telegram channel

Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on for Specific Topics

Full access? Get Clinical Tree

Get Clinical Tree app for offline access