EXTL1 gene

Known as: Exostoses (Multiple)-Like 1 Gene, alpha-N-acetylglucosaminyltransferase II, exostosin-L 
This gene plays a role in carbohydrate metabolism and the biosynthesis of heparin/heparin sulfate.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2015
012319802015

Papers overview

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2015
2015
Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents… (More)
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2013
2013
The gene products of two members of the EXT (exostosin) gene family, EXT1 and EXT2, function together as a polymerase in the… (More)
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2011
2011
B-cell fate and responses are modulated by soluble mediators and direct cellular interactions. Migration properties also vary… (More)
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Highly Cited
2007
Highly Cited
2007
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of… (More)
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2006
2006
OBJECTIVE To retrospectively investigate whether the genetic profile from chorionic villous sampling (CVS) found in euploid… (More)
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2001
2001
The tumor suppressors EXT1 and EXT2 are associated with hereditary multiple exostoses and encode bifunctional… (More)
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2000
2000
Hereditary multiple exostoses (HME) is a genetically heterogeneous disease characterized by the development of bony protuberances… (More)
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1999
1999
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder. It is genetically heterogeneous with at… (More)
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1999
1999
Recently, the EXTL1 gene, a member of the EXT tumor suppressor gene family, has been mapped to 1p36, a chromosome region which is… (More)
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1997
1997
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by multiple bony outgrowths from the… (More)
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