Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

Journal of Clinical Investigation

Volumn 125, Issue 5, 2015, Pages 2151-2160

  Tummala, Hemanth ^a   Walne, Amanda ^a   Collopy, Laura ^a   Cardoso, Shirleny ^a   De La Fuente, Josu ^b   Lawson, Sarah ^c   Powell, James ^c   Cooper, Nicola ^d   Foster, Alison ^d   Mohammed, Shehla ^e   Plagnol, Vincent ^f   Vulliamy, Thomas ^a   Dokal, Inderjeet ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^e GUY S HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN; GENOMIC DNA; MESSENGER RNA; POLY(A) SPECIFIC RIBONUCLEASE; PROTEIN P53; REGULATOR OF TELOMERE ELONGATION HELICASE 1; RIBONUCLEASE; RNA; TELOMERASE; TELOMERIC REPEAT BINDING FACTOR 1; UNCLASSIFIED DRUG; EXORIBONUCLEASE; ISOPROTEIN; POLY(A)-SPECIFIC RIBONUCLEASE; SMALL INTERFERING RNA;

ARTICLE; BONE MARROW DEPRESSION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL CYCLE ARREST; CELL PROLIFERATION; CELL VIABILITY; CELLULAR DISTRIBUTION; CEREBELLUM HYPOPLASIA; CHILD; CONTROLLED STUDY; DNA DAMAGE; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; EXOME; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; INTRON; LEUKOPLAKIA; MALE; MICROCEPHALY; NAIL DYSTROPHY; NUCLEAR LOCALIZATION SIGNAL; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; TELOMERE HOMEOSTASIS; ALLELE; CELL CULTURE; CHEMICAL STRUCTURE; CONSANGUINITY; DEFICIENCY; DOWN REGULATION; ETHNOLOGY; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; MISSENSE MUTATION; MUTATION; PAKISTAN; PEDIGREE; PHENOTYPE; PHYSIOLOGY; PROTEIN CONFORMATION; PROTEIN TERTIARY STRUCTURE;

ALLELES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA DAMAGE; DOWN-REGULATION; DYSKERATOSIS CONGENITA; EXOME; EXORIBONUCLEASES; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; RNA, SMALL INTERFERING; SEQUENCE DELETION; TELOMERE HOMEOSTASIS;

EID: 84928996799     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI78963     Document Type: Article

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