Herman GE - Search Results

1

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: herman ge. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.

2

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE. Cunningham D, et al. Among authors: herman ge. Hum Mol Genet. 2015 May 15;24(10):2808-25. doi: 10.1093/hmg/ddv042. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652406 Free PMC article.

3

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Hummel M, et al. Among authors: herman ge. Am J Med Genet A. 2003 Oct 15;122A(3):246-51. doi: 10.1002/ajmg.a.20248. Am J Med Genet A. 2003. PMID: 12966526

4

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

Lucas ME, Ma Q, Cunningham D, Peters J, Cattanach B, Bard M, Elmore BK, Herman GE. Lucas ME, et al. Among authors: herman ge. Mol Genet Metab. 2003 Sep-Oct;80(1-2):227-33. doi: 10.1016/s1096-7192(03)00137-9. Mol Genet Metab. 2003. PMID: 14567972

5

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley RI, Herman GE. Caldas H, et al. Among authors: herman ge. Mol Genet Metab. 2005 Jan;84(1):48-60. doi: 10.1016/j.ymgme.2004.08.007. Mol Genet Metab. 2005. PMID: 15639195

6

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.

Cunningham D, Spychala K, McLarren KW, Garza LA, Boerkoel CF, Herman GE. Cunningham D, et al. Among authors: herman ge. Mol Genet Metab. 2009 Dec;98(4):356-66. doi: 10.1016/j.ymgme.2009.06.016. Epub 2009 Jul 4. Mol Genet Metab. 2009. PMID: 19631568 Free PMC article.

7

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Herman GE, Kratz L. Herman GE, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):301-21. doi: 10.1002/ajmg.c.31340. Epub 2012 Oct 5. Am J Med Genet C Semin Med Genet. 2012. PMID: 23042573 Review.

8

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.

Cunningham D, Swartzlander D, Liyanarachchi S, Davuluri RV, Herman GE. Cunningham D, et al. Among authors: herman ge. J Lipid Res. 2005 Jun;46(6):1150-62. doi: 10.1194/jlr.M400462-JLR200. Epub 2005 Apr 1. J Lipid Res. 2005. PMID: 15805545 Free article.

9

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Cunningham D, Talabere T, Bir N, Kennedy M, McBride KL, Herman GE. Cunningham D, et al. Among authors: herman ge. Hum Mol Genet. 2010 Jan 15;19(2):364-73. doi: 10.1093/hmg/ddp502. Epub 2009 Oct 30. Hum Mol Genet. 2010. PMID: 19880419 Free PMC article.

10

Inborn errors of sterol biosynthesis.

Kelley RI, Herman GE. Kelley RI, et al. Among authors: herman ge. Annu Rev Genomics Hum Genet. 2001;2:299-341. doi: 10.1146/annurev.genom.2.1.299. Annu Rev Genomics Hum Genet. 2001. PMID: 11701653 Review.

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