| 1 | CKS, NSDHL
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| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
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| 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.
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| Am J Hum Genet 87(6):905-14.PMID: 21129721 2010
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| 2 | CHILD, NSDHL
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| Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
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| Danarti R, Grzeschik KH, Radiono S, König A, Happle R.
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| Eur J Dermatol 20(5):634-5. Epub 2010 Jul 7. No abstract available. PMID: 20605772 2010
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| 3 | NSDHL
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| Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
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| Cunningham D, Spychala K, McLarren KW, Garza LA, Boerkoel CF, Herman GE.
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| Mol Genet Metab 98(4):356-66. Epub 2009 Jul 4.PMID: 19631568 2009
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| 4 | CHILD, NSDHL
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| A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
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| Saito M, Ishiko A.
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| Br J Dermatol 159(5):1204-6. Epub 2008 Sep 1. No abstract available.
2008
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| 5 | NSDHL
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| Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
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| Jiang F, Herman GE.
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| Hum Mol Genet 15(22):3293-305. Epub 2006 Oct 6.PMID: 17028112 2006
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| 6 | NSDHL
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| Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
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| Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE.
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| Am J Med Genet 122A(3):246-51. 2003
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| 7 | NSDHL
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| NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
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| Caldas H, Herman GE.
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| Hum Mol Genet 12(22):2981-91. Epub 2003 Sep 23.PMID: 14506130 2003
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| 8 | CLIC2, NSDHL, PHF10, PHF10P1
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| Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable Loci in distal Xq28.
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| Aradhya S, Woffendin H, Bonnen P, Heiss NS, Yamagata T, Esposito T, Bardaro T, Poustka A, D'Urso M, Kenwrick S, Nelson DL.
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| Genomics 79(1):31-40. 2002
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| 9 | CHILD, NSDHL
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| Genetic disorders of cholesterol biosynthesis in mice and humans.
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| Nwokoro NA, Wassif CA, Porter FD.
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| Mol Genet Metab 74(1-2):105-19. 2001
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| 10 | NSDHL
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| The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
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| Liu XY, et al.
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| Nat Genet 22(2):182-7. 1999
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| 11 | ATP2B5, XAP103, NSDHL, XAP105, XAP106, XAP107, XAP108
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| Transcriptional mapping in a 700-kb region around the DXS52 locus in Xq28 : isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).
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| Heiss NS, Rogner UC, Kioschis P, Korn B, Poustka A.
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| Genome Res 6 : 478-491. 1996
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| 12 | CDPX2A, IP2, XAP103, NSDHL, ZFP92
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| A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.
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| Levin ML, et al.
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| Genome Res 6 : 465-477. 1996
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