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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2012, Volume 109, Issue 6, pp. 2132 - 2137
Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of... 
Eyes | Disease vectors | Disease models | Canines | Retinitis pigmentosa | Photoreceptors | Retina | Gene therapy | Retinal diseases | Genetic mutation | Retinal degeneration | MUTATION ANALYSIS | retinal degeneration | LEBER CONGENITAL AMAUROSIS | CHILDHOOD BLINDNESS | CANINE MODEL | retina | CONE VISION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | RPGR EXON ORF15 | GTPASE REGULATOR RPGR | DISEASE EXPRESSION | Genetic Therapy | Retinal Bipolar Cells - pathology | Humans | Retinitis Pigmentosa - genetics | Genotype | Eye Proteins - therapeutic use | Mutation - genetics | Open Reading Frames - genetics | Blindness - genetics | Protein Transport | Phenotype | Animals | Retinitis Pigmentosa - therapy | Dogs | Opsins - metabolism | Genetic Diseases, X-Linked - genetics | Mice | Blindness - therapy | Eye Proteins - genetics | Photoreceptor Cells, Vertebrate - pathology | Genetic Diseases, X-Linked - therapy | Care and treatment | Blindness | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Mutation | Gene expression | Animal models | Translation | Preservation | X chromosome | Clinical trials | Rod outer segment membranes | Nuclei | Promoters | interphotoreceptor retinoid-binding protein | Cones | Bipolar cells | retinal pigment epithelium | Guanosinetriphosphatase | Index Medicus | Biological Sciences
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 897 - 909.e21
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We... 
DYT3 | XDP | dystonia | transcriptome assembly | retrotransposon | Parkinson’s disease | genome assembly | intron retention | SVA | TAF1 | Parkinson's disease | II ELONGATION RATE | STEM-CELLS | HUMAN-DISEASE | RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRON RETENTION | GENE-EXPRESSION | INTERFERENCE | SEQUENCING DATA | VARIATION DISCOVERY | CELL BIOLOGY | TATA-Binding Protein Associated Factors - metabolism | Humans | Histone Acetyltransferases - genetics | Nerve Degeneration - genetics | Male | Genetic Loci | Transcription Factor TFIID - metabolism | RNA, Messenger - metabolism | Transcription Factor TFIID - genetics | Haplotypes - genetics | Short Interspersed Nucleotide Elements | Base Sequence | Histone Acetyltransferases - metabolism | Minisatellite Repeats - genetics | Female | Genetic Diseases, X-Linked - genetics | Neurons - metabolism | Alu Elements - genetics | Induced Pluripotent Stem Cells - metabolism | Dystonic Disorders - genetics | Introns - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Transcriptome - genetics | TATA-Binding Protein Associated Factors - genetics | CRISPR-Cas Systems - genetics | Nerve Degeneration - pathology | Family | High-Throughput Nucleotide Sequencing | Models, Genetic | Genome, Human | Neural Stem Cells - metabolism | Cohort Studies | Nervous system diseases | Analysis | Genomics | Genetic research | Genetic aspects | Dystonia | Index Medicus
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article
Brain, ISSN 0006-8950, 06/2013, Volume 136, Issue 6, pp. 1708 - 1717
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2010, Volume 107, Issue 36, pp. 15838 - 15843
Journal Article
Emerging Infectious Diseases, ISSN 1080-6040, 06/2010, Volume 16, Issue 6, pp. 918 - 925
Journal Article
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 343 - 352
Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this... 
OCCIPITAL-HORN-SYNDROME | MENKES-DISEASE | MARIE-TOOTH-DISEASE | PROTEIN | SPINAL MUSCULAR-ATROPHY | WILSON-DISEASE | GENETICS & HEREDITY | TRAFFICKING | NEURON DISEASE | DEFICIENCY MYELONEUROPATHY | CANDIDATE GENE | Immunohistochemistry | Copper-transporting ATPases | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | DNA Primers - genetics | Mutation, Missense | RNA, Messenger - metabolism | Genetic Complementation Test | Young Adult | Motor Neuron Disease - metabolism | Motor Neuron Disease - genetics | Cation Transport Proteins - metabolism | Base Sequence | Copper - metabolism | Adult | Cation Transport Proteins - genetics | Female | Genetic Diseases, X-Linked - genetics | Amino Acid Sequence | Genetic Association Studies | Menkes Kinky Hair Syndrome - metabolism | RNA, Messenger - genetics | Cells, Cultured | Adenosine Triphosphatases - metabolism | Models, Molecular | Menkes Kinky Hair Syndrome - genetics | Genetic Diseases, X-Linked - metabolism | Syndrome | Sequence Homology, Amino Acid | Pedigree | Adolescent | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Cation Transport Proteins - chemistry | Adenosine triphosphate | Research | Proteins | Genotype & phenotype | Yeast | Neurons | Genetics | Amino acids | Mutation | Adenosine triphosphatase | Index Medicus
Journal Article