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Search life-sciences literature (45,103,589 articles, preprints and more)

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Human Sterols Are Overproduced, Stored and Excreted in Yeasts.
Radkohl A, Schusterbauer V, Bernauer L, Rechberger GN, Wolinski H, Schittmayer M, Birner-Gruenberger R, Thallinger GG, Leitner E, Baeck M, Pichler H, Emmerstorfer-Augustin A
Int J Mol Sci, 25(2):781, 08 Jan 2024
Cited by: 0 articles | PMID: 38255855 | PMCID: PMC10815178
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The Sterol Transporter Npc2c Controls Intestinal Stem Cell Mitosis and Host-Microbiome Interactions in Drosophila.
Neophytou C, Soteriou E, Pitsouli C
Metabolites, 13(10):1084, 16 Oct 2023
Cited by: 1 article | PMID: 37887409 | PMCID: PMC10609107
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Aziridination-Assisted Mass Spectrometry of Nonpolar Sterol Lipids with Isomeric Resolution.
Hirtzel E, Edwards M, Freitas D, Liu Z, Wang F, Yan X
J Am Soc Mass Spectrom, 34(9):1998-2005, 31 Jul 2023
Cited by: 0 articles | PMID: 37523498 | PMCID: PMC10863044
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Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.
Farkas MH, Skelton LA, Ramachandra-Rao S, Au E, Fliesler SJ
Mol Vis, 28:394-411, 12 Nov 2022
Cited by: 0 articles | PMID: 36540063 | PMCID: PMC9744241
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Generation and validation of a conditional knockout mouse model for desmosterolosis.
Kanuri B, Fong V, Ponny SR, Weerasekera R, Pulakanti K, Patel KS, Tyshynsky R, Patel SB
J Lipid Res, 62:100028, 30 Jan 2021
Cited by: 4 articles | PMID: 33524375 | PMCID: PMC7933790
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Cholesterol homeostasis in the vertebrate retina: biology and pathobiology.
Ramachandra Rao S, Fliesler SJ
J Lipid Res, 62:100057, 02 Mar 2021
Cited by: 31 articles | PMID: 33662384 | PMCID: PMC8010701
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Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.
Kanuri B, Fong V, Ponny SR, Tallman KA, Rao SR, Porter N, Fliesler SJ, Patel SB
J Lipid Res, 62:100002, 22 Nov 2020
Cited by: 3 articles | PMID: 33410752 | PMCID: PMC7890206
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Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J, 16(5):411-429, 12 Jul 2016
Cited by: 23 articles | PMID: 27401223 | PMCID: PMC5028238
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Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression.
Xiao WL, Zhang DZ, Xu H, Zhuang CZ
Biomed Res Int, 2016:7532714, 15 Mar 2016
Cited by: 2 articles | PMID: 27066502 | PMCID: PMC4811056
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Smith-lemli-opitz syndrome: a case with annular pancreas.
Demirdöven M, Yazgan H, Korkmaz M, Gebeşçe A, Tonbul A
Case Rep Pediatr, 2014:623926, 05 Aug 2014
Cited by: 1 article | PMID: 25165593 | PMCID: PMC4137740
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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N, Mucaki EJ, Rogan PK
F1000Res, 3:282, 18 Nov 2014
Cited by: 57 articles | PMID: 25717368 | PMCID: PMC4329672
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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
Caminsky NG, Mucaki EJ, Rogan PK
F1000Res, 17 Mar 2015
Cited by: 0 articles | PPR: PPR42851
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Characterization of large deletions in the DHCR7 gene.
Lanthaler B, Hinderhofer K, Maas B, Haas D, Sawyer H, Burton-Jones S, Carter K, Suri M, Witsch-Baumgartner M
Clin Genet, 88(2):149-154, 21 Oct 2014
Cited by: 3 articles | PMID: 25040602
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HDL and cholesterol handling in the brain.
Vitali C, Wellington CL, Calabresi L
Cardiovasc Res, 103(3):405-413, 06 Jun 2014
Cited by: 122 articles | PMID: 24907980
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Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?
Govindarajan SR, Khanna P, Bhalla AP, Kumar A
Saudi J Anaesth, 8(3):440-442, 01 Jul 2014
Cited by: 1 article | PMID: 25191210 | PMCID: PMC4141408
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Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S, Ren G, Steiner RD, Merkens L, Roullet JB, Korade Z, DiMuzio PJ, Tulenko TN
Mol Genet Metab Rep, 1:431-442, 01 Jan 2014
Cited by: 14 articles | PMID: 25405082 | PMCID: PMC4231544
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Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.
Elias PM, Williams ML, Feingold KR
Clin Dermatol, 30(3):311-322, 01 May 2012
Cited by: 27 articles | PMID: 22507046 | PMCID: PMC3607361
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Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB
Am J Med Genet C Semin Med Genet, 160C(4):250-262, 11 Oct 2012
Cited by: 68 articles | PMID: 23059950
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Cholesterol: its regulation and role in central nervous system disorders.
Orth M, Bellosta S
Cholesterol, 2012:292598, 17 Oct 2012
Cited by: 133 articles | PMID: 23119149 | PMCID: PMC3483652
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Pathogenesis-based therapies in ichthyoses.
Lai-Cheong JE, Elias PM, Paller AS
Dermatol Ther, 26(1):46-54, 01 Jan 2013
Cited by: 8 articles | PMID: 23384020 | PMCID: PMC4498576
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The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.
Opitz JM, Furtado LV
Am J Med Genet C Semin Med Genet, 160C(4):242-249, 11 Oct 2012
Cited by: 2 articles | PMID: 23059855
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Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Ren G, Jacob RF, Kaulin Y, Dimuzio P, Xie Y, Mason RP, Tint GS, Steiner RD, Roullet JB, Merkens L, Whitaker-Menezes D, Frank PG, Lisanti MP, Cox RH, Tulenko TN
Mol Genet Metab, 104(3):346-355, 27 May 2011
Cited by: 11 articles | PMID: 21724437 | PMCID: PMC3365561
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The effects of 7-dehydrocholesterol on the structural properties of membranes.
Liu Y, Chipot C, Shao X, Cai W
Phys Biol, 8(5):056005, 24 Aug 2011
Cited by: 7 articles | PMID: 21865621
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Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA
Am J Med Genet A, 155A(11):2732-2738, 11 Oct 2011
Cited by: 12 articles | PMID: 21990131 | PMCID: PMC3488380
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Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.
Ballini A, Cantore S, Tullo D, Desiate A
J Med Case Rep, 5:38, 27 Jan 2011
Cited by: 3 articles | PMID: 21272302 | PMCID: PMC3039604
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1-25 of 44 results

1 2

Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

Human Sterols Are Overproduced, Stored and Excreted in Yeasts.

The Sterol Transporter Npc2c Controls Intestinal Stem Cell Mitosis and Host-Microbiome Interactions in Drosophila.

Aziridination-Assisted Mass Spectrometry of Nonpolar Sterol Lipids with Isomeric Resolution.

Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.

Generation and validation of a conditional knockout mouse model for desmosterolosis.

Cholesterol homeostasis in the vertebrate retina: biology and pathobiology.

Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression.

Smith-lemli-opitz syndrome: a case with annular pancreas.

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

Characterization of large deletions in the DHCR7 gene.

HDL and cholesterol handling in the brain.

Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?

Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.

Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Cholesterol: its regulation and role in central nervous system disorders.

Pathogenesis-based therapies in ichthyoses.

The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.

Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.

The effects of 7-dehydrocholesterol on the structural properties of membranes.

Adrenal function in Smith-Lemli-Opitz syndrome.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

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