Search Results - "Holzfeind, Paul"
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Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
Published in Nature genetics (01-06-2001)“…Spontaneous and engineered mouse mutants have facilitated our understanding of the pathogenesis of muscular dystrophy and they provide models for the…”
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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders
Published in Human molecular genetics (01-10-2002)“…We have recently shown that a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy…”
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3
Selective upregulation of vascular endothelial growth factor receptors neuropilin‐1 and ‐2 in human neuroblastoma
Published in Cancer (01-01-2002)“…BACKGROUND Recent studies show that vascular endothelial growth factor (VEGF) and its receptors Flt‐1 and KDR, and a series of other angiogenic molecules, are…”
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A Second Promoter Provides an Alternative Target for Therapeutic up-Regulation of Utrophin in Duchenne Muscular Dystrophy
Published in Proceedings of the National Academy of Sciences - PNAS (23-11-1999)“…Duchenne muscular dystrophy (DMD) is an inherited muscle-wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin. We have previously…”
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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders
Published in Human molecular genetics (02-10-2002)“…We have recently shown that a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy…”
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Structural organization of the gene encoding the human lipocalin tear prealbumin and synthesis of the recombinant protein in Escherichia coli
Published in Gene (25-02-1994)“…The genomic DNA fragment encoding the human lipocalin tear prealbumin (LCN1), a new member of the superfamily of hydrophobic molecule transporters, has been…”
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cDNA cloning and sequencing reveals human tear prealbumin to be a member of the lipophilic-ligand carrier protein superfamily
Published in The Journal of biological chemistry (05-10-1992)“…The gene encoding human tear prealbumin, a major component of the protein fraction of tear fluid, was cloned from total cDNA of lacrimal gland by polymerase…”
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A Novel Mechanism for Modulating Synaptic Gene Expression: Differential Localization of α-Dystrobrevin Transcripts in Skeletal Muscle
Published in Molecular and cellular neuroscience (01-01-2001)“…α-Dystrobrevin is a dystrophin-related and -associated protein that is involved in synapse maturation and is required for normal muscle function. There are…”
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Mutant glycosyltransferase and altered glycosylation of [alpha]-dystroglycan in the myodystrophy mouse
Published in Nature genetics (01-06-2001)“…Spontaneous and engineered mouse mutants have facilitated our understanding of the pathogenesis of muscular dystrophy and they provide models for the…”
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10
Expression of the gene for tear lipocalin/von Ebner's gland protein in human prostate
Published in FEBS letters (21-10-1996)“…Northern analysis of human multiple tissue blots containing poly A + RNA from spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral…”
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Tissue-selective expression of alpha-dystrobrevin is determined by multiple promoters
Published in The Journal of biological chemistry (05-03-1999)“…alpha-Dystrobrevin, the mammalian orthologue of the Torpedo 87-kDa postsynaptic protein, is a dystrophin-associated and dystrophin-related protein. Knockout of…”
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Structure and organization of the porcine LCN1 gene encoding Tear lipocalin/von Ebner's gland protein
Published in Gene (20-11-1997)“…We have cloned and sequenced the entire genomic fragment of the porcine LCN1 gene which encodes Tear lipocalin/von Ebner's gland protein, a member of the…”
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The human lacrimal gland synthesizes apolipoprotein D mRNA in addition to tear prealbumin mRNA, both species encoding members of the lipocalin superfamily
Published in Experimental eye research (1995)“…Apolipoprotein D (apoD), a glycoprotein originally characterized as a component of the high density lipoprotein fraction of human plasma and known to be a…”
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Tissue-selective Expression of α-Dystrobrevin Is Determined by Multiple Promoters
Published in The Journal of biological chemistry (05-03-1999)“…α-Dystrobrevin, the mammalian orthologue of the Torpedo 87-kDa postsynaptic protein, is a dystrophin-associated and dystrophin-related protein. Knockout of…”
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