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F1000Research, ISSN 2046-1402, 2019, Volume 7, p. 1956
Next generation sequencing protocols such as RNA-seq have made the genome-wide characterization of the transcriptome a crucial part of many research projects... 
Animal models | Transcription | Genomes | Gene expression | Ribonucleic acid--RNA | Estimates | Ketohexokinase | Datasets | Studies | Next-generation sequencing | Annotations | Research methodology | Computer applications
Journal Article
Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic... 
LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | GENE | MUTATION | TRANSCRIPTION | RETINA | MODEL | CEP290 | CENTROSOMAL PROTEIN | PHOTORECEPTORS | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Leber Congenital Amaurosis - pathology | Optic Disk - cytology | Retinal Pigment Epithelium - metabolism | Humans | Blindness - pathology | Male | Organogenesis - drug effects | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Retinal Pigment Epithelium - pathology | Retinal Pigment Epithelium - ultrastructure | RNA Splicing - genetics | Antigens, Neoplasm - metabolism | Cilia - drug effects | Inheritance Patterns - genetics | Blindness - therapy | Induced Pluripotent Stem Cells - cytology | Neoplasm Proteins - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Retinal Pigment Epithelium - drug effects | rab GTP-Binding Proteins - metabolism | Antigens, Neoplasm - genetics | RNA Splicing - drug effects | Photoreceptor Cells, Vertebrate - ultrastructure | Induced Pluripotent Stem Cells - drug effects | RNA, Messenger - genetics | Exons - genetics | Fibroblasts - pathology | Cilia - metabolism | Eye Proteins - metabolism | Cell Differentiation - drug effects | Fibroblasts - drug effects | Morpholinos - pharmacology | Opsins - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology
Journal Article
Genes and Development, ISSN 0890-9369, 08/2010, Volume 24, Issue 15, pp. 1634 - 1644
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 638 - 650
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 ( , also known as ); this... 
ELP1 | familial dysautonomia | therapeutics | neurodegenerative disease | IKAP | splicing | GANGLIA | MOUSE MODEL | DISEASE SEVERITY | TRANSCRIPTION | MUTATION | GENETICS & HEREDITY | SPINAL DEFORMITY | IKBKAP | ATAXIA | ELONGATOR COMPLEX | EXPRESSION | Gene mutations | Physiological aspects | Genetic aspects | Dysautonomia | Research | Risk factors | RNA splicing
Journal Article
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