Moser H - 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: moser h, moser a. 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: moser h, moser a. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124. Hum Mutat. 2002. PMID: 12325024

3

A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1).

Gärtner J, Obie C, Moser H, Valle D. Gärtner J, et al. Among authors: moser h. Hum Mol Genet. 1992 Nov;1(8):654. doi: 10.1093/hmg/1.8.654. Hum Mol Genet. 1992. PMID: 1301179 No abstract available.

4

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

Gärtner J, Moser H, Valle D. Gärtner J, et al. Among authors: moser h. Nat Genet. 1992 Apr;1(1):16-23. doi: 10.1038/ng0492-16. Nat Genet. 1992. PMID: 1301993

5

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

Chang CC, Lee WH, Moser H, Valle D, Gould SJ. Chang CC, et al. Among authors: moser h. Nat Genet. 1997 Apr;15(4):385-8. doi: 10.1038/ng0497-385. Nat Genet. 1997. PMID: 9090384

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: moser h, moser a. Genomics. 2000 Jan 15;63(2):181-92. doi: 10.1006/geno.1999.6080. Genomics. 2000. PMID: 10673331 Free article.

7

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ. Dodt G, et al. Among authors: moser hw, moser a. Nat Genet. 1995 Feb;9(2):115-25. doi: 10.1038/ng0295-115. Nat Genet. 1995. PMID: 7719337

8

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ. Yahraus T, et al. Among authors: moser hw. EMBO J. 1996 Jun 17;15(12):2914-23. EMBO J. 1996. PMID: 8670792 Free PMC article.

9

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ. Reuber BE, et al. Among authors: moser hw. Nat Genet. 1997 Dec;17(4):445-8. doi: 10.1038/ng1297-445. Nat Genet. 1997. PMID: 9398847

10

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ. Warren DS, et al. Among authors: moser hw. Am J Hum Genet. 1998 Aug;63(2):347-59. doi: 10.1086/301963. Am J Hum Genet. 1998. PMID: 9683594 Free PMC article.

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