Desnick RJ - Search Results

1

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ. Bishop DF, et al. Among authors: desnick rj. Am J Hum Genet. 2006 Apr;78(4):645-58. doi: 10.1086/502667. Epub 2006 Feb 9. Am J Hum Genet. 2006. PMID: 16532394 Free PMC article.

2

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Sakuraba H, et al. Among authors: desnick rj. Genomics. 1992 Apr;12(4):643-50. doi: 10.1016/0888-7543(92)90288-4. Genomics. 1992. PMID: 1315304

3

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.

Ioannou YA, Bishop DF, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. J Cell Biol. 1992 Dec;119(5):1137-50. doi: 10.1083/jcb.119.5.1137. J Cell Biol. 1992. PMID: 1332979 Free PMC article.

4

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.

Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai SF, Desnick RJ. Warner CA, et al. Among authors: desnick rj. Arch Dermatol. 1992 Sep;128(9):1243-8. doi: 10.1001/archderm.128.9.1243. Arch Dermatol. 1992. PMID: 1519940

5

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Jin WD, Jackson CE, Desnick RJ, Schuchman EH. Jin WD, et al. Among authors: desnick rj. Am J Hum Genet. 1992 Apr;50(4):795-800. Am J Hum Genet. 1992. PMID: 1550123 Free PMC article.

6

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.

Wetmur JG, Kaya AH, Plewinska M, Desnick RJ. Wetmur JG, et al. Among authors: desnick rj. Am J Hum Genet. 1991 Oct;49(4):757-63. Am J Hum Genet. 1991. PMID: 1716854 Free PMC article.

7

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

Warner CA, Yoo HW, Roberts AG, Desnick RJ. Warner CA, et al. Among authors: desnick rj. J Clin Invest. 1992 Feb;89(2):693-700. doi: 10.1172/JCI115637. J Clin Invest. 1992. PMID: 1737856 Free PMC article.

8

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ. Astrin KH, et al. Among authors: desnick rj. Hum Genet. 1991 May;87(1):18-22. doi: 10.1007/BF01213085. Hum Genet. 1991. PMID: 2037278

9

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ. Plewinska M, et al. Among authors: desnick rj. Am J Hum Genet. 1991 Jul;49(1):167-74. Am J Hum Genet. 1991. PMID: 2063868 Free PMC article.

10

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

Kornreich R, Bishop DF, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. J Biol Chem. 1990 Jun 5;265(16):9319-26. J Biol Chem. 1990. PMID: 2160973 Free article.

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