Abstract:
:Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10,000 to 20,000 individuals. A de novo paternally derived chromosome 15q11-q13 deletion is the cause of PWS in about 70% of cases, and maternal disomy 15 accounts for about 25% of cases. The remaining cases of PWS result either from genomic imprinting defects (microdeletions or epimutations) of the imprinting centre in the 15q11-q13 region or from chromosome 15 translocations. Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research.
journal_name
Expert Rev Mol Medjournal_title
Expert reviews in molecular medicineauthors
Bittel DC,Butler MGdoi
10.1017/S1462399405009531keywords:
subject
Has Abstractpub_date
2005-07-25 00:00:00pages
1-20issue
14issn
1462-3994pii
S1462399405009531journal_volume
7pub_type
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journal_title:Expert reviews in molecular medicine
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pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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journal_title:Expert reviews in molecular medicine
pub_type: 杂志文章,评审
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abstract::The HEDGEHOG-GLI (HH-GLI) signalling is a key pathway critical in embryonic development, stem cell biology and tissue homeostasis. In recent years, aberrant activation of HH-GLI signalling has been linked to several types of cancer, including those of the skin, brain, lungs, prostate, gastrointestinal tract and blood....
journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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journal_title:Expert reviews in molecular medicine
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