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8 results for uniprot:O14832 in Computationally mapped citations

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A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Grupe A., Li Y., Rowland C., Nowotny P., Hinrichs A.L., Smemo S., Kauwe J.S., Maxwell T.J., Cherny S., Doil L. et al.

Am. J. Hum. Genet. 78:78-88(2006) GAD 594545 GeneRIF 5264 · Mapped (1,462)
Not Associated with NEUROLOGICAL: Alzheimer's disease ; GAD 594545 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5264

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?

Foulon V., Asselberghs S., Geens W., Mannaerts G.P., Casteels M., Van Veldhoven P.P.

J. Lipid Res. 44:2349-2355(2003) GeneRIF 5264 · Mapped (3)
substrate specificity of PAHX is broader than expected so Refsum disease might be characterized by an accumulation of not only phytanic acid but also other 3-alkyl-branched fatty acids GeneRIF 5264

Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.

Searls T., Butler D., Chien W., Mukherji M., Lloyd M.D., Schofield C.J.

J. Lipid Res. 46:1660-1667(2005) GeneRIF 5264 · Mapped (2)
demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX GeneRIF 5264

Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.

Finsterer J., Regelsberger G., Voigtlander T.

Neurol. Sci. 29:173-175(2008) GeneRIF 5264 · Mapped (2)
In the absence of elevated phytanic acid concentrations clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations. GeneRIF 5264

Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.

Wheeler H.E., Metter E.J., Tanaka T., Absher D., Higgins J., Zahn J.M., Wilhelmy J., Davis R.W., Singleton A., Myers R.M. et al.

PLoS Genet. 5:e1000685-e1000685(2009) GeneRIF 5264 · Mapped (336)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5264

Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Hendrickson S.L., Lautenberger J.A., Chinn L.W., Malasky M., Sezgin E., Kingsley L.A., Goedert J.J., Kirk G.D., Gomperts E.D., Buchbinder S.P. et al.

PLoS ONE 5:e12862-e12862(2010) GeneRIF 5264 · Mapped (2,570)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 5264

A human protein-protein interaction network: a resource for annotating the proteome.

Stelzl U., Worm U., Lalowski M., Haenig C., Brembeck F.H., Goehler H., Stroedicke M., Zenkner M., Schoenherr A., Koeppen S. et al.

Cell 122:957-968(2005) MINT MINT-1411634 · UniProtKB (1) · Mapped (1,458)
MINT-63080. PHYH (uniprotkb:O14832) physically interacts (MI:0915) with TOM1L1 (uniprotkb:O75674) by two hybrid (MI:0018). From mint MINT MINT-1411634

Towards a proteome-scale map of the human protein-protein interaction network.

Rual J.F., Venkatesan K., Hao T., Hirozane-Kishikawa T., Dricot A., Li N., Berriz G.F., Gibbons F.D., Dreze M., Ayivi-Guedehoussou N. et al.

Nature 437:1173-1178(2005) MINT MINT-1411634 · UniProtKB (1) · Mapped (1,308)
MINT-66763. MAGEA11 (uniprotkb:P43364) physically interacts (MI:0915) with PHYH (uniprotkb:O14832) by two hybrid (MI:0018). From mint MINT MINT-1411634

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