Porter FD - Search Results

1

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Fu R, Wassif CA, Yanjanin NM, Watkins-Chow DE, Baxter LL, Incao A, Liscum L, Sidhu R, Firnkes S, Graham M, Ory DS, Porter FD, Pavan WJ. Fu R, et al. Among authors: porter fd. Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10. Hum Mol Genet. 2013. PMID: 23666527 Free PMC article. Clinical Trial.

2

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. Wassif CA, et al. Among authors: porter fd. Am J Hum Genet. 1998 Jul;63(1):55-62. doi: 10.1086/301936. Am J Hum Genet. 1998. PMID: 9634533 Free PMC article.

3

The LIM homeobox gene Lhx9 is essential for mouse gonad formation.

Birk OS, Casiano DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, Grinberg A, Huang S, Kreidberg JA, Parker KL, Porter FD, Westphal H. Birk OS, et al. Among authors: porter fd. Nature. 2000 Feb 24;403(6772):909-13. doi: 10.1038/35002622. Nature. 2000. PMID: 10706291

4

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD. Krakowiak PA, et al. Among authors: porter fd. Am J Med Genet. 2000 Sep 18;94(3):214-27. Am J Med Genet. 2000. PMID: 10995508

5

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Wassif CA, et al. Among authors: porter fd. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

6

Genetic disorders of cholesterol biosynthesis in mice and humans.

Nwokoro NA, Wassif CA, Porter FD. Nwokoro NA, et al. Among authors: porter fd. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226. Mol Genet Metab. 2001. PMID: 11592808 Review.

7

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD. Wassif CA, et al. Among authors: porter fd. Mol Genet Metab. 2002 Apr;75(4):325-34. doi: 10.1016/S1096-7192(02)00010-0. Mol Genet Metab. 2002. PMID: 12051964

8

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. Cooper MK, et al. Among authors: porter fd. Nat Genet. 2003 Apr;33(4):508-13. doi: 10.1038/ng1134. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652302

9

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. Krakowiak PA, et al. Among authors: porter fd. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172. Hum Mol Genet. 2003. PMID: 12812989

10

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

Wassif CA, Yu J, Cui J, Porter FD, Javitt NB. Wassif CA, et al. Among authors: porter fd. Steroids. 2003 Aug;68(6):497-502. doi: 10.1016/s0039-128x(03)00090-4. Steroids. 2003. PMID: 12906934

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