A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

Human Genetics

Volumn 135, Issue 7, 2016, Pages 707-713

  Shaheen, Ranad ^a   Han, Lu ^b   Faqeih, Eissa ^c   Ewida, Nour ^a   Alobeid, Eman ^a   Phizicky, Eric M ^b   Alkuraya, Fowzan S ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PSEUDOURIDINE; PUS3 PROTEIN; TRANSFER RNA; UNCLASSIFIED DRUG; URACIL; URIDINE; HYDROLYASE; PSEUDOURIDYLATE SYNTHETASE;

ANTICODON; ARABIDOPSIS THALIANA; ARACHNOID CYST; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CAENORHABDITIS ELEGANS; CISTERNA MAGNA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DENTATE NUCLEUS; DICTYOSTELIUM DISCOIDEUM; DROSOPHILA MELANOGASTER; EXOME; FAILURE TO THRIVE; FRONTAL LOBE; GENE MAPPING; GENE MUTATION; GLOBUS PALLIDUS; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HOMOZYGOUS TRUNCATION MUTATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; ISOMERIZATION; LYMPHOBLASTOID CELL LINE; MICROCEPHALY; MIDDLE CRANIAL FOSSA; MONGOLIAN SPOT; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PONS ANGLE; POSTERIOR FOSSA; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SEQUENCE ANALYSIS; STOP CODON; STRABISMUS; TEMPORAL LOBE; WHITE MATTER; ADOLESCENT; CHILD; COGNITION; FEMALE; GENETICS; HOMOZYGOTE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; RNA PROCESSING;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COGNITION; EXOME; FEMALE; HOMOZYGOTE; HUMANS; HYDRO-LYASES; INTELLECTUAL DISABILITY; MUTATION; PEDIGREE; PHENOTYPE; PSEUDOURIDINE; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, TRANSFER;

EID: 84964036730     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1665-7     Document Type: Article

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