Steel G - Search Results

1

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Braverman N, et al. Among authors: steel g. Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369. Nat Genet. 1997. PMID: 9090381

2

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. Braverman N, et al. Among authors: steel g. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124. Hum Mutat. 2002. PMID: 12325024

3

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D. Weller S, et al. Among authors: steel g. Am J Hum Genet. 2005 Jun;76(6):987-1007. doi: 10.1086/430637. Epub 2005 Apr 27. Am J Hum Genet. 2005. PMID: 15858711 Free PMC article.

4

Identification of a fourth half ABC transporter in the human peroxisomal membrane.

Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D. Shani N, et al. Among authors: steel g. Hum Mol Genet. 1997 Oct;6(11):1925-31. doi: 10.1093/hmg/6.11.1925. Hum Mol Genet. 1997. PMID: 9302272

5

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Camacho JA, et al. Among authors: steel g. Nat Genet. 1999 Jun;22(2):151-8. doi: 10.1038/9658. Nat Genet. 1999. PMID: 10369256

6

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D. Braverman N, et al. Among authors: steel g. Genomics. 2000 Jan 15;63(2):181-92. doi: 10.1006/geno.1999.6080. Genomics. 2000. PMID: 10673331 Free article.

7

Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

Hofman KJ, Steel G, Kazazian HH, Valle D. Hofman KJ, et al. Among authors: steel g. Am J Hum Genet. 1991 Apr;48(4):791-8. Am J Hum Genet. 1991. PMID: 2014802 Free PMC article.

8

Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

Wang T, Lawler AM, Steel G, Sipila I, Milam AH, Valle D. Wang T, et al. Among authors: steel g. Nat Genet. 1995 Oct;11(2):185-90. doi: 10.1038/ng1095-185. Nat Genet. 1995. PMID: 7550347

9

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D. Baumgartner MR, et al. Among authors: steel g. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. doi: 10.1093/hmg/9.19.2853. Hum Mol Genet. 2000. PMID: 11092761

10

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D. Brody LC, et al. Among authors: steel g. J Biol Chem. 1992 Feb 15;267(5):3302-7. J Biol Chem. 1992. PMID: 1737786 Free article.

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