Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene (Q24676443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene (English)

1 reference

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14 October 2019

0 references

C C Glenn

1

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14 October 2019

S Saitoh

2

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14 October 2019

M T Jong

3

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14 October 2019

M M Filbrandt

4

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14 October 2019

U Surti

5

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14 October 2019

D J Driscoll

6

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14 October 2019

R D Nicholls

7

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14 October 2019

language of work or name

English

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publication date

1 February 1996

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American Journal of Human Genetics

14 October 2019

published in

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14 October 2019

volume

58

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14 October 2019

issue

2

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14 October 2019

page(s)

335-346

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Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

14 October 2019

cites work

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Cloned human snRNP proteins B and B' differ only in their carboxy-terminal part

7 April 2017

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A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'

7 April 2017

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The product of the H19 gene may function as an RNA

7 April 2017

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The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons

7 April 2017

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7 April 2017

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

7 April 2017

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Disruption of imprinting caused by deletion of the H19 gene region in mice

7 April 2017

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Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis

7 April 2017

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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

7 April 2017

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Expression of the SmN splicing protein is developmentally regulated in the rodent brain but not in the rodent heart

7 April 2017

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7 April 2017

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The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

7 April 2017

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7 April 2017

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Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

28 September 2017

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Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

28 September 2017

1 reference

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Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

28 September 2017

1 reference

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Mice lacking Snrpn expression show normal regulation of neuronal alternative splicing events

28 September 2017

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

28 September 2017

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Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast

28 September 2017

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28 September 2017

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Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N.

28 September 2017

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Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

28 September 2017

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

28 September 2017

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Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities

28 September 2017

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cDNA sequence of the rat U snRNP-associated protein N: description of a potential Sm epitope

28 September 2017

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Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

28 September 2017

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Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

28 September 2017

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Uniparental paternal disomy in Angelman's syndrome

28 September 2017

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Single pass sequencing and physical and genetic mapping of human brain cDNAs

28 September 2017

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Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

28 September 2017

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Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

30 May 2018

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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

30 May 2018

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Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.

30 May 2018

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Expression of the tissue specific splicing protein SmN in neuronal cell lines and in regions of the brain with different splicing capacities

30 May 2018

1 reference

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Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

30 May 2018

1 reference

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Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.

30 May 2018

1 reference

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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

28 November 2018

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A paternal-specific methylation imprint marks the alleles of the mouse H19 gene.

28 November 2018

1 reference

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Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

28 November 2018

1 reference

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Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

28 November 2018

1 reference

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Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

28 November 2018

1 reference

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Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

28 November 2018

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12 December 2020

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

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12 December 2020

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

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12 December 2020

Cytogenetic and molecular analysis in Angelman syndrome

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12 December 2020

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

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12 December 2020

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

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12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

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12 December 2020

Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence

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12 December 2020

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

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12 December 2020

Ubiquitous expression and imprinting of Snrpn in the mouse

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12 December 2020

Identifiers

3234544

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3234544

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

3234544