scholarly article | Q13442814 |
P50 | author | Jozef Gécz | Q16230617 |
Raquel Rabionet | Q30427810 | ||
Elizabeth E Palmer | Q58236099 | ||
Claire C Homan | Q87414645 | ||
Hiroki Kurahashi | Q88432319 | ||
Raman Kumar | Q88931402 | ||
Tracy Dudding-Byth | Q88931405 | ||
Heather C. Mefford | Q92098631 | ||
Hidehito Inagaki | Q97547921 | ||
P2093 | author name string | Evelyn 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 | |||
P2860 | cites work | Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA | Q24305433 |
Luzp4 defines a new mRNA export pathway in cancer cells | Q24318387 | ||
Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA | Q24320299 | ||
Intellectual disability associated with a homozygous missense mutation in THOC6 | Q24339064 | ||
De novo mutations in epileptic encephalopathies | Q24621776 | ||
Systematic and quantitative assessment of the ubiquitin-modified proteome | Q24634631 | ||
Advances in understanding - genetic basis of intellectual disability | Q26748977 | ||
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | Q27864128 | ||
The role of TREX in gene expression and disease | Q28078160 | ||
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability | Q28117236 | ||
A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles | Q28247080 | ||
THOC5/FMIP, an mRNA export TREX complex protein, is essential for hematopoietic primitive cell survival in vivo | Q28509792 | ||
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia | Q28566329 | ||
The THO complex regulates pluripotency gene mRNA export and controls embryonic stem cell self-renewal and somatic cell reprogramming | Q28592650 | ||
Gene essentiality and synthetic lethality in haploid human cells | Q28771731 | ||
A framework for the interpretation of de novo mutation in human disease | Q29031873 | ||
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | Q29147391 | ||
A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
Functional and evolutionary insights into human brain development through global transcriptome analysis | Q29617082 | ||
Proteomics. Tissue-based map of the human proteome | Q29617248 | ||
The closely related RNA helicases, UAP56 and URH49, preferentially form distinct mRNA export machineries and coordinately regulate mitotic progression | Q30496034 | ||
Identification of 315 genes essential for early zebrafish development | Q33979931 | ||
Refining analyses of copy number variation identifies specific genes associated with developmental delay | Q34254472 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Thoc1/Hpr1/p84 is essential for early embryonic development in the mouse | Q34718004 | ||
The Thoc1 ribonucleoprotein and prostate cancer progression | Q34736122 | ||
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels | Q35927145 | ||
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. | Q36489119 | ||
Thoc1 deficiency compromises gene expression necessary for normal testis development in the mouse | Q37192086 | ||
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy | Q37604522 | ||
High-throughput discovery of novel developmental phenotypes | Q37629635 | ||
Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review | Q37859019 | ||
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases. | Q38215322 | ||
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 cancer | Q38383673 | ||
Genetic studies in intellectual disability and related disorders | Q38616789 | ||
Identification of mRNAs that are spliced but not exported to the cytoplasm in the absence of THOC5 in mouse embryo fibroblasts | Q39551929 | ||
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping | Q41925091 | ||
Architecture and nucleic acids recognition mechanism of the THO complex, an mRNP assembly factor | Q41927350 | ||
Genetic Advances in Intellectual Disability | Q42129373 | ||
The D box meets its match | Q43105384 | ||
Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA. | Q46628586 | ||
Genome-wide analysis of mRNAs regulated by the THO complex in Drosophila melanogaster | Q47072314 | ||
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability | Q47281821 | ||
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations | Q47337489 | ||
ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export. | Q47433707 | ||
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders | Q47547338 | ||
RNA Nuclear Export: From Neurological Disorders to Cancer | Q47907249 | ||
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 | ||
A subcellular map of the human proteome | Q48155823 | ||
Rules and tools to predict the splicing effects of exonic and intronic mutations | Q49832045 | ||
Mortality Among Adults With Intellectual Disability in England: Comparisons With the General Population. | Q53079946 | ||
X-linked mental retardation | Q56270643 | ||
Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs) | Q58494051 | ||
The Influence of Intellectual Disability on Life Expectancy | Q60122501 | ||
P433 | issue | 8 | |
P304 | page(s) | 1126-1138 | |
P577 | publication date | 2018-06-14 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery | |
P478 | volume | 39 |