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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2008-5-29
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pubmed:abstractText |
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-11007541,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-11159938,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-11694676,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-11726556,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-12154412,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-12210318,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-15565282,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-15877813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-16357227,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-18166085,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-18320030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-18509309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-8630505,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-8845846,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-9311744,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18500341-9915945
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Small Nucleolar,
http://linkedlifedata.com/resource/pubmed/chemical/Ribonucleoproteins, Small Nuclear,
http://linkedlifedata.com/resource/pubmed/chemical/SNRPN protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SNURF protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/snRNP Core Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1546-1718
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
40
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
719-21
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:18500341-Autoantigens,
pubmed-meshheading:18500341-Child, Preschool,
pubmed-meshheading:18500341-Chromosome Breakage,
pubmed-meshheading:18500341-Chromosome Deletion,
pubmed-meshheading:18500341-Chromosomes, Human, Pair 15,
pubmed-meshheading:18500341-Female,
pubmed-meshheading:18500341-Genomic Imprinting,
pubmed-meshheading:18500341-Humans,
pubmed-meshheading:18500341-Male,
pubmed-meshheading:18500341-Nuclear Proteins,
pubmed-meshheading:18500341-Pedigree,
pubmed-meshheading:18500341-Prader-Willi Syndrome,
pubmed-meshheading:18500341-RNA, Messenger,
pubmed-meshheading:18500341-RNA, Small Nucleolar,
pubmed-meshheading:18500341-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:18500341-Ribonucleoproteins, Small Nuclear,
pubmed-meshheading:18500341-Transcription, Genetic,
pubmed-meshheading:18500341-snRNP Core Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
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pubmed:affiliation |
Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Extramural
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