|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0011155,
umls-concept:C0018284,
umls-concept:C0020459,
umls-concept:C0021641,
umls-concept:C0026882,
umls-concept:C0037657,
umls-concept:C0162429,
umls-concept:C0175630,
umls-concept:C0205225,
umls-concept:C0205251,
umls-concept:C0243109,
umls-concept:C0332281,
umls-concept:C0441889,
umls-concept:C0678226,
umls-concept:C1149301,
umls-concept:C1274040,
umls-concept:C1456383
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2008-5-8
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|
pubmed:abstractText |
Up to 90% of circulating IGF-I and IGF-II are carried bound to either IGF binding protein (IGFBP)-3 or IGFBP-5 and the acid-labile subunit (ALS) in the form of tertiary complexes that extend their circulating half-life. Three cases of complete ALS deficiency have been recently reported in short-stature patients with very low circulating IGF-I and IGFBP-3 levels who presented with homozygous or compound heterozygous mutations in the ALS encoding gene (IGFALS; 16p13.3), thus supporting a role for ALS in the regulation of the bioavailability of IGFs during postnatal growth.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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|
pubmed:journal |
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|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0021-972X
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
93
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1616-24
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pubmed:dateRevised |
2008-6-30
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pubmed:meshHeading |
pubmed-meshheading:18303074-Adolescent,
pubmed-meshheading:18303074-Blotting, Western,
pubmed-meshheading:18303074-Body Height,
pubmed-meshheading:18303074-Bone Density,
pubmed-meshheading:18303074-Carrier Proteins,
pubmed-meshheading:18303074-Child, Preschool,
pubmed-meshheading:18303074-Genes, Recessive,
pubmed-meshheading:18303074-Glycoproteins,
pubmed-meshheading:18303074-Growth Disorders,
pubmed-meshheading:18303074-Haplotypes,
pubmed-meshheading:18303074-Humans,
pubmed-meshheading:18303074-Hyperinsulinism,
pubmed-meshheading:18303074-Insulin-Like Growth Factor Binding Protein 3,
pubmed-meshheading:18303074-Insulin-Like Growth Factor I,
pubmed-meshheading:18303074-Male,
pubmed-meshheading:18303074-Mutation,
pubmed-meshheading:18303074-Puberty
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|
pubmed:year |
2008
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|
pubmed:articleTitle |
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
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|
pubmed:affiliation |
Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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