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NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2017, Volume 18, Issue 8, pp. 454 - 454
Some common inherited diseases are caused by nucleotide repeat expansions, whereby disease occurs only when the number of repeats exceeds a critical threshold.... 
GENETICS & HEREDITY | Trinucleotide repeats | Genetic disorders | Research | Gene mutations | RNA | Ribonucleic acid--RNA | Genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e49083 - e49083
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.... 
PATHOGENESIS | APOPTOSIS | CTG REPEAT | UNFOLDED PROTEIN RESPONSE | MENTAL-RETARDATION | ENDOTHELIAL DYSTROPHY | MULTIDISCIPLINARY SCIENCES | INHERITANCE | PITT-HOPKINS-SYNDROME | MISSENSE MUTATIONS | HAPLOINSUFFICIENCY | Blotting, Southern | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Transcription Factor 4 | Humans | Middle Aged | Molecular Sequence Data | Male | Transcription Factors - genetics | Sequence Analysis, DNA | Case-Control Studies | Genome, Human - genetics | Microsatellite Repeats - genetics | Base Sequence | Alleles | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Trinucleotide Repeat Expansion - genetics | Female | Aged | Chromosomes, Human, Pair 18 - genetics | Genetic aspects | Single nucleotide polymorphisms | Genes | Analysis | Cornea | Transcription factors | Laboratories | Intellectual disabilities | Pathogenesis | Transplantation | Biochemistry | Single-nucleotide polymorphism | Kinases | Gene sequencing | Proteins | Primers | DNA repeat expansion | Southern blotting | Expansion | Chromosomes | Deoxyribonucleic acid--DNA | Edema | Health risks | Data processing | Patients | Endothelium | White blood cells | Corneal dystrophy | Dystrophy | Genetic testing | Molecular biology | DNA sequencing | Apoptosis | Polymorphism | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Cell, ISSN 0092-8674, 09/2018, Volume 175, Issue 1, pp. 224 - 238.e15
More than 25 inherited human disorders are caused by the unstable expansion of repetitive DNA sequences termed short tandem repeats (STRs). A fundamental... 
trinucleotide repeat expansion disorders | subTADs | genome instability | short tandem repeats | fragile X syndrome | 3D genome folding | TADs | topologically associating domains | higher-order chromatin architecture | LINEAGE COMMITMENT | CTG REPEAT | HUMAN GENOME | DNA METHYLATION | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRAGILE-X-SYNDROME | CTCF | HUNTINGTONS-DISEASE | TRINUCLEOTIDE REPEATS | MYOTONIC-DYSTROPHY | CELL BIOLOGY | Humans | CCCTC-Binding Factor - genetics | Trinucleotide Repeat Expansion - physiology | Chromatin Assembly and Disassembly - genetics | Fragile X Mental Retardation Protein - physiology | Male | Fragile X Mental Retardation Protein - metabolism | CCCTC-Binding Factor - physiology | Disease - etiology | Chromatin - physiology | Adult | Female | Fragile X Syndrome - genetics | Cell Line | Brain - cytology | Disease - genetics | Fragile X Syndrome - metabolism | Microsatellite Repeats - physiology | CpG Islands - physiology | Genome, Human - genetics | Microsatellite Repeats - genetics | DNA - genetics | Brain - pathology | CpG Islands - genetics | Trinucleotide Repeat Expansion - genetics | Fragile X Mental Retardation Protein - genetics | Chromatin - genetics | Chromatin Assembly and Disassembly - physiology | Epigenetic inheritance | Medical colleges | Anopheles | Chromatin | Genomics | Plants | Nucleotide sequencing | DNA sequencing | Index Medicus
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2013, Volume 9, Issue 2, pp. e1003280 - e1003280
Journal Article
Nature Neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 5, pp. 694 - 703
Journal Article