Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Human Molecular Genetics

Volumn 24, Issue 11, 2014, Pages 3172-3180

  Ahmed, Iltaf ^a,b   Buchert, Rebecca ^c   Zhou, Mi ^d   Jiao, Xinfu ^d   Mittal, Kirti ^a   Sheikh, Taimoor I ^a   Scheller, Ute ^c   Vasli, Nasim ^a   Rafiq, Muhammad Arshad ^a   Qasim Brohi, M ^e   Mikhailov, Anna ^a   Ayaz, Muhammad ^f   Bhatti, Attya ^b   Sticht, Heinrich ^c   Nasr, Tanveer ^g,h   Carter, Melissa T ⁱ   Uebe, Steffen ^c   Reis, André ^c   Ayub, Muhammad ^f,j   John, Peter ^b   Kiledjian, Megerditch ^d   Vincent, John B ^a,k,l   Jamra, Rami Abou ^c   more..

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b NATIONAL UNIVERSITY OF SCIENCES AND TECHNOLOGY   (Pakistan)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d RUTGERS UNIVERSITY   (United States)

^e Sir CJ Institute of Psychiatry   (Pakistan)

^f Lahore Institute of Research Development   (Pakistan)

^g MAYO HOSPITAL   (Pakistan)

^h Department of Psychiatry Chaudhary Hospital   (Pakistan)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j QUEEN S UNIVERSITY   (Canada)

^k UNIVERSITY OF TORONTO   (Canada)

^l UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DCPS ENZYME; DECAPPING ENZYME 2; EDC3 PROTEIN; EXONUCLEASE; GLYCINE; MESSENGER RNA; METHIONINE; NUCLEOTIDE; PHENYLALANINE; SCAVENGER; SERINE; THREONINE; UNCLASSIFIED DRUG; DCPS PROTEIN, HUMAN; EDC3 PROTEIN, HUMAN; ISOPROTEIN; RIBONUCLEASE; RNA SPLICING; SMALL NUCLEAR RIBONUCLEOPROTEIN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NERVE CELL DIFFERENTIATION; NEUROLOGIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; RNA METABOLISM; SCHOOL CHILD; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; CHEMISTRY; CONSANGUINITY; GENETIC ASSOCIATION STUDY; GENETICS; METABOLISM; PEDIGREE; POINT MUTATION; RECESSIVE GENE; RNA PROCESSING; RNA SPLICING; YOUNG ADULT;

ADOLESCENT; CHILD; CONSANGUINITY; ENDORIBONUCLEASES; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA SPLICE SITES; RNA, MESSENGER; YOUNG ADULT;

EID: 84930716318     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv069     Document Type: Article

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