Herman GE - Search Results

1

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

2

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE. Liu XY, et al. Among authors: herman ge. Nat Genet. 1999 Jun;22(2):182-7. doi: 10.1038/9700. Nat Genet. 1999. PMID: 10369263

3

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

4

Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.

Jiang F, Herman GE. Jiang F, et al. Among authors: herman ge. Hum Mol Genet. 2006 Nov 15;15(22):3293-305. doi: 10.1093/hmg/ddl405. Epub 2006 Oct 6. Hum Mol Genet. 2006. PMID: 17028112

5

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.

6

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.

7

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

Caldas H, Herman GE. Caldas H, et al. Among authors: herman ge. Hum Mol Genet. 2003 Nov 15;12(22):2981-91. doi: 10.1093/hmg/ddg321. Epub 2003 Sep 23. Hum Mol Genet. 2003. PMID: 14506130

8

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB. Herman GE, et al. Genet Med. 2002 Nov-Dec;4(6):434-8. doi: 10.1097/00125817-200211000-00006. Genet Med. 2002. PMID: 12509714 Free article.

9

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

10

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.

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