Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter (Q79687080)

From Wikidata

Jump to navigation Jump to search

scientific article published on 30 January 2007

Language	Label	Description	Also known as
English	Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter	scientific article published on 30 January 2007

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

author name string

Esther N Maina

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Tessa Webb

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Sarita Soni

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Joyce Whittington

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Harm Boer

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

David Clarke

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Anthony Holland

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

publication date

30 January 2007

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

52

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

297-307

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imprinting-mutation mechanisms in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation-specific PCR simplifies imprinting analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control elements within the PWS/AS imprinting box and their function in the imprinting process

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between clinical and genetic diagnosis of Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of the bipartite imprinting center in a family with Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human Snrpn minimal promoter and cis elements within it.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The imprinting box of the Prader-Willi/Angelman syndrome domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The paradox of Prader-Willi syndrome: a genetic model of starvation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele-specific gene expression differences in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0109-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262171 AND SRC:MED&resulttype=core&format=json

24 December 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q79687080&oldid=2234621340"