Related references
Note: Only part of the references are listed.Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Jill A. Rosenfeld et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Comparative Analysis of Different Label-Free Mass Spectrometry Based Protein Abundance Estimates and Their Correlation with RNA-Seq Gene Expression Data
Kang Ning et al.
JOURNAL OF PROTEOME RESEARCH (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD
Lulu Huang et al.
MOLECULAR CELL (2011)
Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay
Ivone G. Bruno et al.
MOLECULAR CELL (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Hossein Najmabadi et al.
NATURE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Autoregulation of the nonsense-mediated mRNA decay pathway in human cells
Hasmik Yepiskoposyan et al.
RNA (2011)
Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors
Pamela Nicholson et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2010)
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Angela L. Duker et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
The nonsense-mediated decay pathway maintains synapse architecture and synaptic vesicle cycle efficacy
A. Ashleigh Long et al.
JOURNAL OF CELL SCIENCE (2010)
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
F. Laumonnier et al.
MOLECULAR PSYCHIATRY (2010)
The exon junction complex component Magoh controls brain size by regulating neural stem cell division
Debra L. Silver et al.
NATURE NEUROSCIENCE (2010)
Heritability in the Efficiency of Nonsense-Mediated mRNA Decay in Humans
Cathal Seoighe et al.
PLOS ONE (2010)
SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs
Chenguang Gong et al.
GENES & DEVELOPMENT (2009)
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
Gurdeep S. Sagoo et al.
GENETICS IN MEDICINE (2009)
Whole population, genome-wide mapping of hidden relatedness
Alexander Gusev et al.
GENOME RESEARCH (2009)
Nonsense-Mediated mRNA Decay Effectors Are Essential for Zebrafish Embryonic Development and Survival
Nadine Wittkopp et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Da Wei Huang et al.
NATURE PROTOCOLS (2009)
A UPF3-mediated regulatory switch that maintains RNA surveillance
Wai-Kin Chan et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Long 3-UTRs target wild-type mRNAs for nonsense-mediated mRNA decay in Saccharomyces cerevisiae
Bessie W. Kebaara et al.
NUCLEIC ACIDS RESEARCH (2009)
The genetic landscape of intellectual disability arising from chromosome X
Jozef Gecz et al.
TRENDS IN GENETICS (2009)
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
Ryan N. Traylor et al.
MOLECULAR CYTOGENETICS (2009)
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues
Almoutassem B. Zetoune et al.
BMC GENETICS (2008)
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
B. C. Ballif et al.
CLINICAL GENETICS (2008)
Structural insights into the exon junction complex
Herve Le Hir et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2008)
NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements
Joachim Weischenfeldt et al.
GENES & DEVELOPMENT (2008)
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven A. McCarroll et al.
NATURE GENETICS (2008)
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Ali Mortazavi et al.
NATURE METHODS (2008)
Introducing sense into nonsense in treatments of human genetic diseases
Liat Linde et al.
TRENDS IN GENETICS (2008)
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Blake C. Ballif et al.
MOLECULAR CYTOGENETICS (2008)
NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity
Hala Chamieh et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
Telomeric repeat-containing RNA and RNA surveillance factors at mammalian chromosome ends
Claus M. Azzalin et al.
SCIENCE (2007)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2007)
The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression
Corinna Giorgi et al.
CELL (2007)
An alternative branch of the nonsense-mediated decay pathway
Wai-Kin Chan et al.
EMBO JOURNAL (2007)
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
Javier Simon-Sanchez et al.
HUMAN MOLECULAR GENETICS (2007)
The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway
Marcelo H. Viegas et al.
NUCLEIC ACIDS RESEARCH (2007)
Gender-specific differences in expression in human lymphoblastoid cell lines
Wei Zhang et al.
PHARMACOGENETICS AND GENOMICS (2007)
Functions of the nonsense-mediated mRNA decay pathway in Drosophila development
Mark M. Metzstein et al.
PLOS GENETICS (2006)
A homozygous frameshift mutation in the ESCO2 gene:: Evidence of intertissue and interindividual variation in NMD efficiency
Nicoletta Resta et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2006)
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
Devin P. Locke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay
J Wittmann et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Common deletion polymorphisms in the human genome
SA McCarroll et al.
NATURE GENETICS (2006)
Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements
NH Gehring et al.
MOLECULAR CELL (2005)
Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets
A Rehwinkel et al.
RNA (2005)
An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay
IM Palacios et al.
NATURE (2004)
Detection of large-scale variation in the human genome
AJ Iafrate et al.
NATURE GENETICS (2004)
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
JT Mendell et al.
NATURE GENETICS (2004)
Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5′ to 3′ mRNA decay pathways in yeast
F He et al.
MOLECULAR CELL (2003)
Nonsense-mediated mRNA decay in Drosophila:: at the intersection of the yeast and mammalian pathways
D Gatfield et al.
EMBO JOURNAL (2003)
A quality control pathway that down-regulates aberrant T-cell receptor (TCR) transcripts by a mechanism requiring UPF2 and translation
J Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
M Rio et al.
JOURNAL OF MEDICAL GENETICS (2002)
Rho proteins, mental retardation and the cellular basis of cognition
GJA Ramakers
TRENDS IN NEUROSCIENCES (2002)
Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay
A Yamashita et al.
GENES & DEVELOPMENT (2001)
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
SM Medghalchi et al.
HUMAN MOLECULAR GENETICS (2001)
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Y Horikawa et al.
NATURE GENETICS (2000)
Upf1p control of nonsense mRNA translation is regulated by Nmd2p and Upf3p
AB Maderazo et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames
MJ Ruiz-Echevarría et al.
CELL (2000)
Share Paper
