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Peroxisome Biogenesis Disorder, Complementation Group C

Known as: CGC 
National Institutes of Health

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1 relation
Peroxisome Biogenesis Disorder, Complementation Group 4

Papers overview

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2014
2014
Genetic variants may play an important role in mRNA–miRNA interaction: evidence for haplotype-dependent downregulation of ABCC2 (MRP2) by miRNA-379
Background The functional influence of single-nucleotide polymorphisms (SNPs) of the ATP-binding cassette (ABC) transporter ABCC2… 
2011
2011
Fourier Harmonics of High-pT Particles Probing the Fluctuating Intitial Condition Geometries in Heavy-Ion Collisions
Second Fourier harmonics of jet quenching have been thoroughly explored in the literature and shown to be sensitive to the… 
2008
2008
Enzyme immobilisation on electroactive nanostructured membranes (ENM): optimised architectures for biosensing.
Highly Cited
2005
Highly Cited
2005
Influence of functional haplotypes in the drug transporter gene ABCB1 on central nervous system drug distribution in humans
2005
2005
Role of p53 codon 72 polymorphism in the risk of development of distal gastric cancer
Objective Mutations in the codon 72 of exon 4 in the p53 gene have been associated with higher risk in the development of several… 
2002
2002
Inhibition of oxidative stress produced by plasma membrane NADH oxidase delays low‐potassium‐induced apoptosis of cerebellar granule cells
From 1 to 3 h after the onset of cerebellar granule cells (CGC) apoptosis in a low‐K+(5 mm KCl) medium there was a large decay of… 
2001
2001
Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder
The glycoprotein (GP) Ib/IX/V complex plays an important role in primary hemostasis, serving as the platelet receptor for von… 
Highly Cited
1996
Highly Cited
1996
Mutations of the p16 gene in gliomas.
In the present study we investigated the frequency of p16 gene exon 2 mutations in 35 malignant gliomas, using either direct… 
Highly Cited
1990
Highly Cited
1990
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
Mutations in the androgen receptor (AR) are thought to cause complete androgen insensitivity (CAIS) in 46,XY human subjects who… 
Highly Cited
1987
Highly Cited
1987
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
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