PLEC wt Allele

Known as: PLEC1b, LGMD2Q, HD1 
Human PLEC wild-type allele is located in the vicinity of 8q24 and is approximately 62 kb in length. This allele, which encodes plectin protein, is… (More)
National Institutes of Health

Papers overview

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2014
2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or… (More)
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Highly Cited
2007
Highly Cited
2007
UDP-glucose:glycoprotein glucosyltransferase (UGGT) is a presumed folding sensor of protein quality control in the endoplasmic… (More)
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2000
Highly Cited
2000
electrophoresis (PAGE) that the mutant donor plasmids express wild-type levels of LtrA protein. 16. In 29 of 39 mobility products… (More)
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Highly Cited
2000
Highly Cited
2000
Est1 is a component of yeast telomerase, and est1 mutants have senescence and telomere loss phenotypes. The exact function of… (More)
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1997
1997
The mobile group II introns aI1 and aI2 of yeast mtDNA encode endonuclease activities that cleave intronless DNA target sites to… (More)
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1997
1997
Two frequent protein variants of glutamate pyruvate transminase (GPT) (E.C.2.6.1.2) have been used as genetic markers in humans… (More)
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1996
1996
In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering is associated with late… (More)
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1996
1996
Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have… (More)
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Highly Cited
1992
Highly Cited
1992
The recent definition of a consensus DNA binding sequence for the Ets family of transcription factors has allowed the… (More)
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