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1. Small molecule therapy for genetic disease
by Thoene, Jess G
2010, ISBN 0521517818, xiii, 223
Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will... 
Metabolism, Inborn errors of | Clinical & internal medicine | Chemotherapy | Genetic disorders | Handbooks, manuals, etc | Gene therapy
Book
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2. Full Text Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era
by Humbert, Marc and Sitbon, Olivier and Chaouat, Ari and Bertocchi, Michèle and Habib, Gilbert and Gressin, Virginie and Yaïci, Azzedine and Weitzenblum, Emmanuel and Cordier, Jean-François and Chabot, François and Dromer, Claire and Pison, Christophe and Reynaud-Gaubert, Martine and Haloun, Alain and Laurent, Marcel and Hachulla, Eric and Cottin, Vincent and Degano, Bruno and Jaïs, Xavier and Montani, David and Souza, Rogério and Simonneau, Gérald
Circulation, ISSN 0009-7322, 07/2010, Volume 122, Issue 2, pp. 156 - 163
Background-Novel therapies have recently become available for pulmonary arterial hypertension. We conducted a study to characterize mortality in a multicenter... 
Hypertension | Exercise | Mortality | Pulmonary | Risk factors | Sex | EPOPROSTENOL THERAPY | risk factors | CARDIAC & CARDIOVASCULAR SYSTEMS | PROGNOSTIC-FACTORS | sex | hypertension, pulmonary | exercise | SYSTEMIC-SCLEROSIS | COMBINATION | 1ST-LINE BOSENTAN | TRIAL | mortality | GERMLINE MUTATIONS | PERIPHERAL VASCULAR DISEASE | REGISTRY | Hypertension, Pulmonary - mortality | Prevalence | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Cardiac Output | Hypertension, Pulmonary - physiopathology | Male | Survival Rate | Incidence | Sex Factors | Adult | Female | Aged | Genetic Diseases, Inborn - physiopathology | Hypertension, Pulmonary - drug therapy | In Vitro Techniques | Genetic Diseases, Inborn - drug therapy | Genetic Diseases, Inborn - mortality | Physiological aspects | Care and treatment | Hemodynamics | Research | Patient outcomes | Pulmonary hypertension
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3. Full Text Ribosome. The structure of the human mitochondrial ribosome
by Amunts, Alexey and Amunts, Alexey and Brown, Alan and Brown, Alan and Toots, Jaan and Toots, Jaan and Scheres, Sjors H. W and Scheres, Sjors H.W and Ramakrishnan, V and Ramakrishnan, V
Science, ISSN 0036-8075, 04/2015, Volume 348, Issue 6230, pp. 95 - 98
The highly divergent ribosomes of human mitochondria (mitoribosomes) synthesize 13 essential proteins of oxidative phosphorylation complexes. We have... 
Ribosomal Proteins - chemistry | Humans | RNA, Ribosomal - chemistry | Genetic Diseases, Inborn - genetics | Ribosomes - chemistry | Crystallography, X-Ray | Mitochondria - ultrastructure | GTP Phosphohydrolases - chemistry | Ribosomes - ultrastructure | Ribosomes - genetics | RNA, Messenger - chemistry | Anti-Bacterial Agents - pharmacology | Aminoglycosides - pharmacology | Drug Resistance, Bacterial - genetics | Mitochondria - chemistry | Genetic Diseases, Inborn - drug therapy | Aminoglycosides - therapeutic use
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4. Full Text Unlocking Mendelian disease using exome sequencing
by Gilissen, C.F and Hoischen, A and Brunner, H.G and Veltman, J.A
Genome Biology, ISSN 1474-760X, 2011, Volume 12, Issue 9, pp. 228 - 228
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype... 
HEARING-LOSS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DNA | GENETICS & HEREDITY | NOTCH2 CAUSE | DISORDER | COMPARATIVE GENOMIC HYBRIDIZATION | IDENTIFICATION | CYSTIC-FIBROSIS GENE | REVEALS | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Genetic Testing - methods | Genetic Heterogeneity | DNA Copy Number Variations | Exome | Phenotype | Alleles | Mutation | Genome, Human | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Genetic Diseases, Inborn - drug therapy | Evolution, Molecular | Genetic Linkage | Review
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5. Full Text PTC124 targets genetic disorders caused by nonsense mutations
by Welch, Ellen M and Barton, Elisabeth R and Zhuo, Jin and Tomizawa, Yuki and Friesen, Westley J and Trifillis, Panayiota and Paushkin, Sergey and Patel, Meenal and Trotta, Christopher R and Hwang, Seongwoo and Wilde, Richard G and Karp, Gary and Takasugi, James and Chen, Guangming and Jones, Stephen and Ren, Hongyu and Moon, Young-Choon and Corson, Donald and Turpoff, Anthony A and Campbell, Jeffrey A and Conn, M. Morgan and Khan, Atiyya and Almstead, Neil G and Hedrick, Jean and Mollin, Anna and Risher, Nicole and Weetall, Marla and Yeh, Shirley and Branstrom, Arthur A and Colacino, Joseph M and Babiak, John and Ju, William D and Hirawat, Samit and Northcutt, Valerie J and Miller, Langdon L and Spatrick, Phyllis and He, Feng and Kawana, Masataka and Feng, Huisheng and Jacobson, Allan and Peltz, Stuart W and Sweeney, H. Lee
Nature, ISSN 0028-0836, 05/2007, Volume 447, Issue 7140, pp. 87 - 91
Nonsense mutations promote premature translational termination and cause anywhere from 5 - 70% of the individual cases of most inherited diseases(1). Studies... 
TRANSCRIPTS | MULTIDISCIPLINARY SCIENCES | TERMINATION CODONS | MUSCULAR-DYSTROPHY | MESSENGER-RNA DECAY | CYSTIC-FIBROSIS | STOP MUTATIONS | TRANSLATION | PROTEINS | SUPPRESSION | EFFICIENCY | Oxadiazoles - administration & dosage | Genetic Diseases, Inborn - blood | Humans | RNA, Messenger - genetics | Dystrophin - biosynthesis | Genetic Diseases, Inborn - genetics | Substrate Specificity | Biological Availability | RNA, Messenger - metabolism | Oxadiazoles - therapeutic use | Phenotype | Animals | Dystrophin - genetics | Oxadiazoles - pharmacology | Alleles | Mice, Inbred mdx | Protein Biosynthesis - drug effects | Mice | Protein Biosynthesis - genetics | Oxadiazoles - pharmacokinetics | Codon, Nonsense - genetics | Genetic Diseases, Inborn - drug therapy | Genetic disorders | Cellular biology | Protein synthesis | Rodents | Cystic fibrosis | Mutation | Drug therapy
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6. Full Text Therapeutics Based on Stop Codon Readthrough
by Keeling, Kim M and Xue, Xiaojiao and Gunn, Gwen and Bedwell, David M
Annual Review of Genomics and Human Genetics, ISSN 1527-8204, 8/2014, Volume 15, Issue 1, pp. 371 - 394
Nonsense suppression therapy encompasses approaches aimed at suppressing translation termination at in-frame premature termination codons (PTCs, also known as... 
nonsense mutation | nonsense suppression therapy | premature termination codons | readthrough | EXON-JUNCTION COMPLEX | READ-THROUGH | LONG-QT SYNDROME | SUPPRESSOR TRANSFER-RNA | EUKARYOTIC TRANSLATION TERMINATION | GENETICS & HEREDITY | MUTATION CYSTIC-FIBROSIS | USH1C NONSENSE MUTATION | DUCHENNE MUSCULAR-DYSTROPHY | MESSENGER-RNA DECAY | CF MOUSE MODEL | Humans | Genetic Diseases, Inborn - genetics | Nonsense Mediated mRNA Decay - drug effects | Peptide Chain Termination, Translational | Codon, Nonsense - drug effects | Nonsense Mediated mRNA Decay - genetics | Protein Biosynthesis - drug effects | Protein Biosynthesis - genetics | Genetic Diseases, Inborn - pathology | Codon, Nonsense - genetics | Genetic Diseases, Inborn - drug therapy | Genetic research | Codon | Research | Gene therapy | Health aspects
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