Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 643-652

  Shaheen, Ranad ^a   Anazi, Shams ^a   Ben Omran, Tawfeg ^b   Seidahmed, Mohammed Zain ^c   Caddle, L Brianna ^d   Palmer, Kristina ^d   Ali, Rehab ^b   Alshidi, Tarfa ^a   Hagos, Samya ^a   Goodwin, Leslie ^d   Hashem, Mais ^a   Wakil, Salma M ^a   Abouelhoda, Mohamed ^a   Colak, Dilek ^a   Murray, Stephen A ^d   Alkuraya, Fowzan S ^a,e  

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

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c SECURITY FORCES HOSPITAL   (Saudi Arabia)

^d JACKSON LABORATORY   (United States)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

brain atrophy; cleft palate; congenital heart disease; developmental delay; microphthalmia; NMD; SMG1; UPF1

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONSANGUINITY; CONTROLLED STUDY; CRISPR CAS SYSTEM; EMBRYO; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MOUSE; MULTIPLE MALFORMATION SYNDROME; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; SMG9 GENE; STOP CODON; TRANSCRIPTION REGULATION; ADULT; ALLELE; AMINO ACID SEQUENCE; ANIMAL; CASE CONTROL STUDY; CHILD; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PEDIGREE; PHOSPHORYLATION; PRESCHOOL CHILD; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM;

MESSENGER RNA; PHOSPHOPROTEIN; SMG-9 PROTEIN, HUMAN; STOP CODON;

ABNORMALITIES, MULTIPLE; ADULT; ALLELES; AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NONSENSE MEDIATED MRNA DECAY; PEDIGREE; PHOSPHOPROTEINS; PHOSPHORYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; SAUDI ARABIA;

EID: 84964898456     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.02.010     Document Type: Article

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