Literature DB >> 15805162

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter.   

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Year:  2005        PMID： 15805162      PMCID： PMC1736027          DOI： 10.1136/jmg.2004.022749

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  17 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

2.  Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

Authors:  Eleonora Napoli; Flora Tassone; Sarah Wong; Kathleen Angkustsiri; Tony J Simon; Gyu Song; Cecilia Giulivi
Journal:  J Biol Chem       Date:  2015-07-28       Impact factor: 5.157

3.  Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.

Authors:  V Bzduch; D Behulova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-03-08       Impact factor: 4.982

Review 4.  Recent insights into the Smith-Lemli-Opitz syndrome.

Authors:  H Yu; S B Patel
Journal:  Clin Genet       Date:  2005-11       Impact factor: 4.438

5.  Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins.

Authors:  Jieshuang Jia; Elisabeth Werkmeister; Sara Gonzalez-Hilarion; Catherine Leroy; Dieter C Gruenert; Frank Lafont; David Tulasne; Fabrice Lejeune
Journal:  J Cell Sci       Date:  2017-07-25       Impact factor: 5.285

6.  Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Authors:  I Balogh; K Koczok; G P Szabó; O Török; K Hadzsiev; G Csábi; L Balogh; E Dzsudzsák; E Ajzner; L Szabó; V Csákváry; A V Oláh
Journal:  Mol Syndromol       Date:  2012-11-09

7.  Rescue of nonsense mutations by amlexanox in human cells.

Authors:  Sara Gonzalez-Hilarion; Terence Beghyn; Jieshuang Jia; Nadège Debreuck; Gonzague Berte; Kamel Mamchaoui; Vincent Mouly; Dieter C Gruenert; Benoit Déprez; Fabrice Lejeune
Journal:  Orphanet J Rare Dis       Date:  2012-08-31       Impact factor: 4.123

Review 8.  Smith-Lemli-Opitz syndrome.

Authors:  Andrea E DeBarber; Yasemen Eroglu; Louise S Merkens; Anuradha S Pappu; Robert D Steiner
Journal:  Expert Rev Mol Med       Date:  2011-07-22       Impact factor: 5.600

9.  Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Authors:  D Haas; S F Garbade; C Vohwinkel; N Muschol; F K Trefz; J M Penzien; J Zschocke; G F Hoffmann; P Burgard
Journal:  J Inherit Metab Dis       Date:  2007-05-11       Impact factor: 4.982

10.  Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Authors:  Barbara Lanthaler; Elisabeth Steichen-Gersdorf; Barbara Kollerits; Johannes Zschocke; Martina Witsch-Baumgartner
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246
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