Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

scientific article published on 14 June 2018

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.23557
P932PMC publication ID6481655
P698PubMed publication ID29851191

P50authorJozef GéczQ16230617
Raquel RabionetQ30427810
Elizabeth E PalmerQ58236099
Claire C HomanQ87414645
Hiroki KurahashiQ88432319
Raman KumarQ88931402
Tracy Dudding-BythQ88931405
Heather C. MeffordQ92098631
Hidehito InagakiQ97547921
P2093author name stringEvelyn Douglas
Tim M Strom
Alison Gardner
Mark Tarnopolsky
Dagmar Wieczorek
Michael Field
Gail E Herman
Lourdes Loidi
Jessica Douglas
Irene Madrigal
Naoko Ishihara
Zornitza Stark
Lauren Brady
Hermann-Josef Lüdecke
Simon Sadedin
Gretchen Parsons
Theresa Mihalic Mosher
Jesús Eiris
Meredith K Gillespie
Catherine Bearce Nowak
Paul Mark
Broad CMG
Laura Domènech Salgado
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Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.Q38237562
Elevated expression of Thoc1 is associated with aggressive phenotype and poor prognosis in colorectal cancerQ38383673
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Identification of mRNAs that are spliced but not exported to the cytoplasm in the absence of THOC5 in mouse embryo fibroblastsQ39551929
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotypingQ41925091
Architecture and nucleic acids recognition mechanism of the THO complex, an mRNP assembly factorQ41927350
Genetic Advances in Intellectual DisabilityQ42129373
The D box meets its matchQ43105384
Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA.Q46628586
Genome-wide analysis of mRNAs regulated by the THO complex in Drosophila melanogasterQ47072314
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disabilityQ47281821
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsQ47337489
ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.Q47433707
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RNA Nuclear Export: From Neurological Disorders to CancerQ47907249
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Q48018126
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Mortality Among Adults With Intellectual Disability in England: Comparisons With the General Population.Q53079946
X-linked mental retardationQ56270643
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The Influence of Intellectual Disability on Life ExpectancyQ60122501
P433issue8
P304page(s)1126-1138
P577publication date2018-06-14
P1433published inHuman MutationQ5937269
P1476titleSevere neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
P478volume39