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No mutations of the SMN or NAIP genes were detected. Paper-1014932.
All of the control individuals had both normal SMN and NAIP. Paper-731322.
Three SNPs in the SNRPN/ UBE3A region had marginal imprinting effects. Paper-13008461.
However, the presence of antibodies directed against SmD was more frequent in SLE. Paper-13400998.
Identification of immunoreactive domains of the snRNP polypeptides Sm-B'/B and Sm-D. Paper-6603983.
In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. Paper-12358773.
SNURF encodes a highly basic 71-aa protein that is nuclear-localized (as is SmN). Paper-1866677.
A CpG island encompassing the first exon of SNRPN is methylated on the inactive maternal allele. Paper-1133988.
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Paper-113628.
Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Paper-731322.
Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Paper-1500786.
However, C-banding and FISH with chromosome 15 probes D15Z1, D15S11, SNRPN, and PML were all negative. Paper-8668036.
Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients. Paper-8488558.
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Paper-8143866.
The E2 and SMN proteins were found to associate specifically in vitro and in vivo. Paper-1935917.
Here we present results that indicate that the interaction of SMN with GAR1 is mediated by the Tudor domain of SMN. Paper-9186565.
We show that both SNURF and SNRPN are translated in normal, but not PWS, human, and mouse tissues and cell lines. Paper-1866677.
CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes. Paper-14128628.
A non-radioactive SSCP assay allows for a semiquantitative analysis of the copy number of the centromeric and SMN genes. Paper-728907.
SMNt and its homologous centromeric copy (SMNc) encode the SMN protein, which is markedly reduced in SMA I patients. Paper-2153690.
Whereas some human tissues express a minor SNURF-only transcript, mouse tissues express only the bicistronic Snurf-Snrpn transcript. Paper-1866677.
Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ ZNF127, PW71 (D15S63), and SNRPN loci. Paper-961930.
2. DNA methylation studies showed that the proband had a paternal-only DNA methylation pattern at SNRPN, D15S63 (PW71), and ZNF127. Paper-560463.
The AS deletions all overlap this minimal region, centromeric to the PWS microdeletions, which include the first exon of the SNRPN gene. Paper-690001.
HaploChIP showed close correlation between the level of bound phosphorylated RNA polymerase II at the SNRPN locus and allele-specific expression. Paper-9884523.
Paternal UPD of chromosome 15 was detected in one case, while the other two patients have abnormal methylation at D15S9, D15S63, and SNRPN. Paper-632999.
As is the case with SNRPN, PWS patients with 15q11-q13 deletions do not express IPW, whereas expression is normal in Angelman syndrome patients. Paper-163832.
The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. Paper-728907.
DNA methylation analysis at three major loci ( ZNF127, PW71 and 5' SNRPN) has been successfully used for the postnatal diagnosis of AS and PWS. Paper-8490328.
Single point mutations within the Tudor domain, including a spinal muscular atrophy patient mutation, impair the interaction of SMN with GAR1. Paper-9186565.
INTERVENTION(S): The CpG methylation patterns were examined at seven imprinted loci sequenced: LIT1, MEST, SNRPN, PLAGL1, PEG3, H19, and IGF2. Paper-14576450.
Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/ Angelman syndrome critical region. Paper-2120772.
A pseudogene for the human ribosomal protein L5 ( RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15. Paper-950394.
The imprinted SNRPN locus is a complex transcriptional unit that encodes the SNURF and SmN polypeptides as well as multiple non-coding RNAs. Paper-11010364.
In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material. Paper-566823.
Two patients were detected to harbor the hybrid SMN gene, one type II with deletion of the NAIP gene, and one type III without deletion of the NAIP gene. Paper-8488558.
In addition, no association between survival and aberrant MEG3 (HR=2.15, p=0.072) or SNRPN methylation (HR=1.08, p=0.85) was observed in patients MDS. Paper-14128628.
The SMN protein is important in small nuclear ribonucleoprotein ( snRNP) assembly and interacts with snRNP proteins via arginine/ glycine-rich domains. Paper-9186565.
Here we report that an intronless pseudogene for the L5 ribosomal protein maps within an intron of the SNRPN transcription unit on human chromosome 15. Paper-950394.
In contrast, AS imprinting mutation patients show biparental expression of SNRPN and IPW but must lack expression of the putative AS gene 250-1000 kb distal of the IC. Paper-690001.
The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. Paper-1014932.
Correct prenatal diagnoses were obtained in 24 out of 24 samples using the 5' SNRPN locus; 4 out of 15 using the ZNF127 locus; and 10 out of 18 using the PW71 locus. Paper-8490328.
The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Paper-1500786.
DNA sequence was determined for a cosmid containing the first three exons of SNRPN and extending 20 kb upstream and 15 kb downstream from the CpG island. Paper-1133988.
The human SNRPB ' / B locus is biallelically unmethylated, unlike the imprinted SNRPN locus which is unmethyl-ated only on the expressed paternal allele. Paper-8275889.
To investigate this in haematologic malignancies, we evaluated the aberrant promoter methylation of two imprinted genes ( MEG3 and SNRPN) in 43 MDS and 42 AML patients. Paper-14128628.
Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene ( exons 5 and 6) was deleted in only 26% of patients. Paper-1500786.
Two genes are known to be involved in spinal muscular atrophy (SMA), namely, SMN (survival motor neuron) and NAIP ( neuronal apoptosis inhibitory protein). Paper-731322.
Furthermore, we have found that differential DNA methylation imprints at the SNRPN promoter and at a CpG island in 11p15 are also maintained in somatic-cell hybrids. Paper-1681370.
NAIP deletions were screened in 197 Italian SMA patients lacking SMN; the results obtained were correlated with disease severity in male and female samples separately. Paper-2159462.
Childhood SMAs are common neuromuscular disorders, due to the occurrence of large genomic deletions encompassing the SMN gene and often extending to involve the NAIP gene. Paper-2159462.
Recently, the common forms of spinal muscular atrophy (SMA) have been associated with mutations of the SMN and NAIP genes on chromosome 5, in the region q11.2-13. Paper-1014932.
Methylation polymerase chain reaction analysis of the promoter region of the SNRPN gene showed only the maternal allele, consistent with the PWS phenotype. Paper-10426288.
MYCN, PTEN, and OR5BF1 were strongly overexpressed, whereas BIN1, SNRPN, and HRAS were found to be strongly underrepresented at the transcriptional level. Paper-13100830.
Furthermore, they suggest that SMA type-I chromosomes, with the dual deletion of the SMN and NAIP genes, are more common in Arabs than in patients of other ethnic origin. Paper-731322.
Finally, we have found that unlike the interaction of SMN with the Sm snRNP proteins, interaction with GAR1 and fibrillarin is not enhanced by arginine dimethylation. Paper-9186565.
In a screen for proteins associated with the nuclear transcription activator ' E2' of papillomavirus, two independent SMN cDNAs were isolated. Paper-1935917.
Two candidate SMA genes, NAIP and SMN, isolated from the 5q13 region, have been reported to be homozygously deleted in approximately 30% and >95% of SMA patients, respectively. Paper-8332898.
Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine- modified box H/ACA small nucleolar ribonucleoprotein GAR1. Paper-9186565.
Fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. Paper-8491384.
Furthermore, we find that either of the two arginine/ glycine-rich domains of GAR1 can provide for interaction with SMN, but removal of both results in loss of the interaction. Paper-9186565.
Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene ( SMN1) on chromosome 5. Paper-8892707.
In the nucleus, SMN is present in large foci called gems, the function of which is not yet known, while cytoplasmic SMN has been implicated in snRNP biogenesis. Paper-1935917.
Furthermore, activation of the paternally expressed imprinted genes Snrpn, U2af1-rs1, Peg3, Impact, Zfp127, Dlk1 and Mest in these cells was detected. Paper-12556142.
Phylogenetic analysis of the SNRPN ( SmN) mRNA in five eutherian mammals reveals a second highly conserved coding sequence, termed SNURF ( SNRPN upstream reading frame). Paper-1866677.
SMN2 produces reduced amounts of full-length SMN mRNA, and spinal muscular atrophy likely results from insufficient levels of SMN protein in motor neurons. Paper-11401371.
We used conventional cytogenetics, methylation analysis with the probe KB17 ( CpG island of the SNRPN gene) by Southern blotting after digestion with the Xba I and Not I restriction enzymes. Paper-1535285.
These observations suggest that SMA may in part result from abnormal gene expression and that E2 may influence viral gene expression through SMN interaction. Paper-1935917.
MEG3 hypermethylation was associated with significantly reduced overall survival in individuals with AML (HR=1.98, p=0.04), while SNRPN CpG methylation was not associated with survival (HR=0.94, p=0.87). Paper-14128628.
Plasmid-based and recombinant adeno-associated virus vectors were developed that expressed bifunctional RNAs that stimulated SMN2 exon 7 inclusion and full-length SMN protein in patient fibroblasts. Paper-12047487.
A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated. Paper-9612525.
CONCLUSIONS: Our results suggest that the use of RNP-70 and SmD antigens may increase the practical value of immunoassays used to confirm a diagnosis of SLE or MCTD in patients with connective tissue disease. Paper-13400998.
Recently, SMN was also found to interact with core protein components of the two major families of small nucleolar RNPs, fibrillarin and GAR1, suggesting that SMN may also function in the assembly of small nucleolar RNPs. Paper-9186565.
These findings identify SNURF as a protein that is produced along with SmN from a bicistronic transcript; polycistronic mRNAs therefore are encoded in mammalian genomes where they may form functional operons. Paper-1866677.
We found that expression is inherently variable in the amplified cDNA from embryo to embryo but the use of several samples at each stage showed that the SNRPN, UBE3A and PEG1 genes are expressed throughout human preimplantation development. Paper-9053912.
Our data thus demonstrate, for the first time, almost complete equivalence between the SMN promoters and rule out the important possibility that differences in them might explain why mutations in only the telomeric SMN gene cause SMA. Paper-1903773.
Expression of SMN enhanced E2-dependent transcriptional activation, and patient-derived SMN missense mutations reduced E2 gene expression. Paper-1935917.
Therefore, our data indicate that although the DNA methylation imprints of ZNF127 and 5' SNRPN arise in the germline and are present in brain, only 5' SNRPN maintains the imprint in tissues suitable for the prenatal diagnosis of AS and PWS. Paper-8490328.
Galectin-1 and galectin-3 bind directly to Gemin4, a component of the SMN core complex, which plays multiple roles in ribonucleoprotein assembly, including the biogenesis, delivery, and recycling of snRNPs to the spliceosome. Paper-10532655.
To investigate the role of individual snRNP components in the initiation and diversification of anti- snRNP Ab responses, we immunized A/J mice with recombinant Smith D ( SmD), Smith B ( SmB), and A ribonucleoprotein (A-RNP) with alum as adjuvant. Paper-9451756.
Herein we show that the Tudor domains of the spinal muscular atrophy gene product SMN, the splicing factor 30 kDa (SPF30), and the Tudor domain-containing 3 ( TDRD3) proteins interacted with arginine-glycine-rich motifs in a methylarginine-dependent manner. Paper-11209264.
In three PWS patients (two sibs), small deletions remove a differentially methylated CpG island containing a newly described 5' exon alpha of SNRPN, and cause loss of expression for the three imprinted transcripts and altered methylation over hundreds of kilobases. Paper-8143866.
IPW is located about 150 kb distal to SNRPN, the only other known gene in the deletion interval, and about 50 kb proximal to the breakpoint of a translocation which defines the distal end of the PWS region and the proximal end of the Angelman syndrome (AS) region. Paper-163832.
Molecular studies in the family using six polymorphic markers for chromosome 15 and Southern blot analysis of DNA methylation for the CpG island near the SNRPN gene showed normal biparental inheritance of chromosome 15, excluding uniparental disomy. Paper-1175645.
Two novel transcripts located within 300 kilobases telomeric to the small nuclear ribonucleoprotein- associated polypeptide N gene ( SNRPN) were paternally expressed in cultured cells, along with SNRPN, defining a large imprinted transcriptional domain. Paper-8143866.
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. Paper-759461.
In cases of Prader-Willi syndrome (PWS), a total of 24 patients with PWS, as well as 205 control individuals from the general population, were analyzed by use of multiplex quantitative PCR to amplify the FGFR2 gene, the KRIT1 gene, and the SNRPN gene simultaneously. Paper-12340168.
Currently pursued therapeutic strategies for SMA include induction of SMN2 gene expression, modulation of splicing of SMN2-derived transcripts, stabilization of SMN protein, neuroprotection of SMN deficit neurons, and SMN1 gene replacement. Paper-11401371.
To demonstrate the utility of our approach, we report data to determine the gene dosage for relative amounts of alleles in a homologous gene, allowing detection of mutation causing exon skipping in human SMN genes to determine the ratio between the copy numbers of the SMN1/ SMN2 gene. Paper-11482573.
The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. Paper-1535741.
Four additional cases were detected by fluorescence in situ hybridization (FISH) with the cosmid probes for D15S11, r-aminobutyric acid receptor beta 3 ( GABRB3), small nuclear ribonucleoprotein-associated peptide N ( SNRPN) or D15S10 (Prader-Willi/ Angelman syndrome region probes). Paper-664714.
These results suggest that disruption of either IPW expression or a nearby gene by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of SNRPN or other upstream genes is responsible for other aspects of the classical Prader-Willi syndrome phenotype. Paper-1170618.
When comparing the severity of methylation alterations among infertile patients, the oligozoospermic patients were significantly affected at mesoderm-specific transcript ( MEST), whereas abnormal protamine patients were affected at KCNQ1, overlapping transcript 1 (LIT1), and at small nuclear ribonucleoprotein polypeptide N ( SNRPN). Paper-14576450.
This investigation detects the inherent precision of four navigation systems, of different structural type, for computer-assisted surgery, ranging from 0.1 to 1.8 mm: the Viewing Wand with a mechanical arm, and three new systems, the SMN microscope and STP pointer with infrared technology and the MKM system with laser autofocus. Paper-1165502.
Placenta, HMH, histologically normal liver and other tissues were examined for androgenetic/biparental mosaicism by analysis of (1) polymorphic DNA microsatellite markers, (2) the methylation status of an imprinted gene, SNRPN, and (3) immunohistochemically detectable protein products of the imprinted genes p57KIP2 and TSSC3. Paper-12757259.
High resolution chromosome analysis was normal but fluorescence in situ hybridization (FISH), Southern hybridization, and microsatellite data from the 15q11q13 region demonstrated that the deletion was paternal in origin and included the SNRPN, PAR-5, and PAR-7 genes from the proximal to distal boundaries of the deletion segment. Paper-864063.
Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. Paper-1679646.
These synonyms are used for gene SNRPN (small nuclear ribonucleoprotein polypeptide N): Tissue-specific-splicing protein, SNURF-SNRPN, SNRNP-N, snRNP-N, Sm protein N, Sm protein D, Sm-N, SMN, SmN, SM-D, Sm-D, Small nuclear ribonucleoprotein-associated protein N, RT-LI, PWCR, MGC29886, HCERN3, FLJ39265, FLJ36996, FLJ33569, DKFZp762N022, DKFZp761I1912, DKFZp686M12165, DKFZp686C0927.
These accession numbers are used for gene SNRPN: P17135 (UNIPROT__AC), P14648 (UNIPROT__AC), BX648788 (NCBI_GENBANK__AC), AB061718 (NCBI_GENBANK__AC).
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Pan troglodytes.
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Canis lupus familiaris.
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Bos taurus.
SNRPN is a homologue of Snrpn (small nuclear ribonucleoprotein N) from Mus musculus.
SNRPN is a homologue of Snrpn (small nuclear ribonucleoprotein polypeptide N) from Rattus norvegicus.
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