Published in Clin Med Insights Case Rep on May 05, 2013
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science (2005) 4.54
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Prader-Willi syndrome. Genet Med (2011) 3.40
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One (2008) 2.27
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet (2009) 1.95
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. Hum Mol Genet (2010) 1.83
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum Mol Genet (1999) 1.69
Prader-Willi Syndrome: Obesity due to Genomic Imprinting. Curr Genomics (2011) 1.43
Processing of snoRNAs as a new source of regulatory non-coding RNAs: snoRNA fragments form a new class of functional RNAs. Bioessays (2012) 1.22
Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression. Nucleic Acids Res (2011) 1.01
RNA splicing and editing modulation of 5-HT(2C) receptor function: relevance to anxiety and aggression in VGV mice. Mol Psychiatry (2012) 0.97
Identification of novel ribonucleo-protein complexes from the brain-specific snoRNA MBII-52. RNA (2010) 0.91
The 5' untranslated region of the serotonin receptor 2C pre-mRNA generates miRNAs and is expressed in non-neuronal cells. Exp Brain Res (2013) 0.86
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science (2005) 4.54
Alternative splicing and disease. Biochim Biophys Acta (2008) 3.47
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Prader-Willi syndrome. Genet Med (2011) 3.40
ASD: the Alternative Splicing Database. Nucleic Acids Res (2004) 3.26
Prader-Willi syndrome. Eur J Hum Genet (2008) 2.59
Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA. Hum Mol Genet (2004) 2.23
Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB. Nat Struct Mol Biol (2010) 2.19
Expression of the splicing factor gene SFRS10 is reduced in human obesity and contributes to enhanced lipogenesis. Cell Metab (2011) 2.08
Nutritional phases in Prader-Willi syndrome. Am J Med Genet A (2011) 2.08
Function of alternative splicing. Gene (2012) 2.00
Pre-mRNA secondary structures influence exon recognition. PLoS Genet (2007) 1.92
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. Hum Mol Genet (2010) 1.83
Clinical and genetic aspects of Angelman syndrome. Genet Med (2010) 1.74
The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease. J Neurochem (2005) 1.51
The YTH domain is a novel RNA binding domain. J Biol Chem (2010) 1.45
Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis. Proc Natl Acad Sci U S A (2004) 1.41
Splicing factor Tra2-beta1 is specifically induced in breast cancer and regulates alternative splicing of the CD44 gene. Cancer Res (2006) 1.34
Substances that can change alternative splice-site selection. Biochem Soc Trans (2008) 1.34
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet (2007) 1.33
Expression of splicing factors in human ovarian cancer. Oncol Rep (2004) 1.31
The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J (2010) 1.28
Defects in pre-mRNA processing as causes of and predisposition to diseases. DNA Cell Biol (2002) 1.28
Genetic disruption of the Plasmodium falciparum digestive vacuole plasmepsins demonstrates their functional redundancy. J Biol Chem (2004) 1.25
YTH: a new domain in nuclear proteins. Trends Biochem Sci (2002) 1.25
Ischemia induces a translocation of the splicing factor tra2-beta 1 and changes alternative splicing patterns in the brain. J Neurosci (2002) 1.24
Heterogeneous nuclear ribonucleoprotein G regulates splice site selection by binding to CC(A/C)-rich regions in pre-mRNA. J Biol Chem (2009) 1.23
Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta. J Biol Chem (2003) 1.22
Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1. Nat Struct Mol Biol (2011) 1.22
Processing of snoRNAs as a new source of regulatory non-coding RNAs: snoRNA fragments form a new class of functional RNAs. Bioessays (2012) 1.22
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J Neurol Neurosurg Psychiatry (2006) 1.19
Analysis of the human TrkB gene genomic organization reveals novel TrkB isoforms, unusual gene length, and splicing mechanism. Biochem Biophys Res Commun (2002) 1.19
Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. J Neurochem (2004) 1.17
Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30c.SRp55 complex that either recruits or antagonizes htra2beta1. J Biol Chem (2005) 1.15
Regulation of TRKB surface expression by brain-derived neurotrophic factor and truncated TRKB isoforms. J Biol Chem (2002) 1.14
Emerin interacts in vitro with the splicing-associated factor, YT521-B. Eur J Biochem (2003) 1.12
Exon-based clustering of murine breast tumor transcriptomes reveals alternative exons whose expression is associated with metastasis. Cancer Res (2010) 1.12
Estrogen regulation and physiopathologic significance of alternative promoters in breast cancer. Cancer Res (2010) 1.08
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet (2011) 1.07
ASEtrap: a biological method for speeding up the exploration of spliceomes. Genome Res (2006) 1.07
Melanoma spheroids grown under neural crest cell conditions are highly plastic migratory/invasive tumor cells endowed with immunomodulator function. PLoS One (2011) 1.07
p59(fyn)-mediated phosphorylation regulates the activity of the tissue-specific splicing factor rSLM-1. Mol Cell Neurosci (2004) 1.06
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab (2005) 1.04
The intranuclear localization and function of YT521-B is regulated by tyrosine phosphorylation. Hum Mol Genet (2004) 1.04
Pre-mRNA missplicing as a cause of human disease. Prog Mol Subcell Biol (2006) 1.03
Single molecule profiling of tau gene expression in Alzheimer's disease. J Neurochem (2007) 1.02
Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression. Nucleic Acids Res (2011) 1.01
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res (2005) 1.00
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am J Med Genet A (2007) 0.99
Rapid generation of splicing reporters with pSpliceExpress. Gene (2008) 0.99
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis Rheum (2006) 0.98
Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet (2009) 0.98
WT1 interacts with the splicing protein RBM4 and regulates its ability to modulate alternative splicing in vivo. Exp Cell Res (2006) 0.97
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. J Clin Invest (2013) 0.96
Regulation of H-ras splice variant expression by cross talk between the p53 and nonsense-mediated mRNA decay pathways. Mol Cell Biol (2007) 0.96
Global profiling of alternative splicing events and gene expression regulated by hnRNPH/F. PLoS One (2012) 0.95
Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics (2005) 0.93
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. Am J Med Genet A (2008) 0.93
Early childhood obesity is associated with compromised cerebellar development. Dev Neuropsychol (2009) 0.92
BCL-2 inhibition with ABT-737 prolongs survival in an NRAS/BCL-2 mouse model of AML by targeting primitive LSK and progenitor cells. Blood (2013) 0.92
The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling. EMBO Mol Med (2013) 0.91
X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A (2007) 0.91
Regulation of alternative splicing by short non-coding nuclear RNAs. RNA Biol (2010) 0.91
Trimethylation of histone H3 lysine 4 is an epigenetic mark at regions escaping mammalian X inactivation. Epigenetics (2007) 0.90
Nonsense-mediated mRNA decay impacts MSI-driven carcinogenesis and anti-tumor immunity in colorectal cancers. PLoS One (2008) 0.90
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A (2007) 0.89
Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA. J Biol Chem (2011) 0.89
Sudemycin E influences alternative splicing and changes chromatin modifications. Nucleic Acids Res (2014) 0.88
C6 pyridinium ceramide influences alternative pre-mRNA splicing by inhibiting protein phosphatase-1. Nucleic Acids Res (2011) 0.88
Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. Am J Med Genet A (2014) 0.88
Lipocalin 2, the TNF-like receptor TWEAKR and its ligand TWEAK act downstream of NFAT1 to regulate breast cancer cell invasion. J Cell Sci (2012) 0.87
Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genet Med (2007) 0.86
Gene- and exon-expression profiling reveals an extensive LPS-induced response in immune cells in patients with cirrhosis. J Hepatol (2013) 0.86
The 5' untranslated region of the serotonin receptor 2C pre-mRNA generates miRNAs and is expressed in non-neuronal cells. Exp Brain Res (2013) 0.86
Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse. Hum Mol Genet (2008) 0.86
Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain. Gene (2005) 0.86
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. Cell Reprogram (2013) 0.86
An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5' splice site of tau exon 10, whose misregulation causes frontotemporal dementia. Gene (2011) 0.85
Effects of topiramate in adults with Prader-Willi syndrome. Am J Ment Retard (2004) 0.85
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr (2006) 0.84
Growth standards of infants with Prader-Willi syndrome. Pediatrics (2011) 0.84
A transcriptome signature of endothelial lymphatic cells coexists with the chronic oxidative stress signature in radiation-induced post-radiotherapy breast angiosarcomas. Carcinogenesis (2012) 0.84
Genomic checkpoints for exon 10 usage in the luteinizing hormone receptor type 1 and type 2. Mol Endocrinol (2007) 0.83
Increased soluble CD44 concentrations are associated with larger tumor size and lymph node metastasis in breast cancer patients. J Cancer Res Clin Oncol (2008) 0.83
Pyrvinium pamoate changes alternative splicing of the serotonin receptor 2C by influencing its RNA structure. Nucleic Acids Res (2013) 0.82
DARPP-32 binds to tra2-beta1 and influences alternative splicing. Biochim Biophys Acta (2010) 0.82
CXXC5 (retinoid-inducible nuclear factor, RINF) is a potential therapeutic target in high-risk human acute myeloid leukemia. Oncotarget (2013) 0.82
Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. Am J Med Genet A (2011) 0.81
Differential regulation of 5' splice variants of the glutamate transporter EAAT2 in an in vivo model of chemical hypoxia induced by 3-nitropropionic acid. J Neurosci Res (2003) 0.81
Alternative splicing-related factor YT521: an independent prognostic factor in endometrial cancer. Int J Gynecol Cancer (2010) 0.81
Genome wide array analysis indicates that an amyotrophic lateral sclerosis mutation of FUS causes an early increase of CAMK2N2 in vitro. Biochim Biophys Acta (2013) 0.81
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome. J Neurodev Disord (2011) 0.80
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers (2011) 0.80
Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) (2014) 0.80