Literature DB >> 12235098

Malformation syndromes due to inborn errors of cholesterol synthesis.

Forbes D Porter1.   

Abstract

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Year:  2002        PMID： 12235098      PMCID： PMC151134          DOI： 10.1172/JCI16386

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  60 in total

Review 1.  Dueling enigmas: neurosteroids and sigma receptors in the limelight.

Authors:  T T Gibbs; D H Farb
Journal:  Sci STKE       Date:  2000-11-28

Review 2.  SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver.

Authors:  Jay D Horton; Joseph L Goldstein; Michael S Brown
Journal:  J Clin Invest       Date:  2002-05       Impact factor: 14.808

Review 3.  Cholesterol modification of Hedgehog family proteins.

Authors:  Juhee Jeong; Andrew P McMahon
Journal:  J Clin Invest       Date:  2002-09       Impact factor: 14.808

Review 4.  Cholesterol, lipid rafts, and disease.

Authors:  Kai Simons; Robert Ehehalt
Journal:  J Clin Invest       Date:  2002-09       Impact factor: 14.808

5.  Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Authors:  W Reardon; A Smith; J W Honour; P Hindmarsh; D Das; G Rumsby; I Nelson; S Malcolm; L Adès; D Sillence; D Kumar; C DeLozier-Blanchet; S McKee; T Kelly; W L McKeehan; M Baraitser; R M Winter
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 6.  Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review.

Authors:  June E Eichner; S Terence Dunn; Ghazala Perveen; David M Thompson; Kenneth E Stewart; Berrit C Stroehla
Journal:  Am J Epidemiol       Date:  2002-03-15       Impact factor: 4.897

Review 7.  Cholesterol, A beta and Alzheimer's disease.

Authors:  T Hartmann
Journal:  Trends Neurosci       Date:  2001-11       Impact factor: 13.837

Review 8.  Cholesterol, essential fatty acids, and suicide.

Authors:  Jürgen Brunner; K G Parhofer; P Schwandt; T Bronisch
Journal:  Pharmacopsychiatry       Date:  2002-01       Impact factor: 5.788

9.  Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Authors:  Christopher A Wassif; Donna Vied; Maria Tsokos; William E Connor; Robert D Steiner; Forbes D Porter
Journal:  Mol Genet Metab       Date:  2002-04       Impact factor: 4.797

10.  Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Authors:  Richard I Kelley; Lisa E Kratz; Rivka L Glaser; Michael L Netzloff; Linda Miller Wolf; Ethylin W Jabs
Journal:  Am J Med Genet       Date:  2002-06-15
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  29 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

Review 2.  Cholesterol in health and disease.

Authors:  Ira Tabas
Journal:  J Clin Invest       Date:  2002-09       Impact factor: 14.808

Review 3.  The serotonin1A receptor: a representative member of the serotonin receptor family.

Authors:  Thomas J Pucadyil; Shanti Kalipatnapu; Amitabha Chattopadhyay
Journal:  Cell Mol Neurobiol       Date:  2005-06       Impact factor: 5.046

4.  Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.

Authors:  Steven J Fliesler; Dana K Vaughan; Erin C Jenewein; Michael J Richards; Barbara A Nagel; Neal S Peachey
Journal:  Pediatr Res       Date:  2007-03       Impact factor: 3.756

5.  Desmosterolosis and desmosterol homeostasis in the developing mouse brain.

Authors:  Luke B Allen; Thiago C Genaro-Mattos; Ned A Porter; Károly Mirnics; Zeljka Korade
Journal:  J Inherit Metab Dis       Date:  2019-04-08       Impact factor: 4.982

6.  Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.

Authors:  R Kennedy Keller; Thomas P Arnold; Steven J Fliesler
Journal:  J Lipid Res       Date:  2003-11-01       Impact factor: 5.922

7.  Prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 gene (Hsd17b7) plays a crucial role in embryonic development and fetal survival.

Authors:  Aurora Shehu; Jifang Mao; Gil B Gibori; Julia Halperin; Jamie Le; Y Sangeeta Devi; Bradley Merrill; Hiroaki Kiyokawa; Geula Gibori
Journal:  Mol Endocrinol       Date:  2008-07-31

8.  Inability to fully suppress sterol synthesis rates with exogenous sterol in embryonic and extraembyronic fetal tissues.

Authors:  Lihang Yao; Katie Jenkins; Paul S Horn; M Hayden Lichtenberg; Laura A Woollett
Journal:  Biochim Biophys Acta       Date:  2007-09-26

9.  Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

Authors:  Mark J Merkens; Nancy L Sinden; Christine D Brown; Louise S Merkens; Jean-Baptiste Roullet; Thuan Nguyen; Robert D Steiner
Journal:  J Pediatr       Date:  2014-07-16       Impact factor: 4.406

10.  Age-dependent increase in desmosterol restores DRM formation and membrane-related functions in cholesterol-free DHCR24-/- mice.

Authors:  Katrin Kuehnle; Maria D Ledesma; Lucie Kalvodova; Alicia E Smith; Arames Crameri; Fabienne Skaanes-Brunner; Karin M Thelen; Luka Kulic; Dieter Lütjohann; Frank L Heppner; Roger M Nitsch; M Hasan Mohajeri
Journal:  Neurochem Res       Date:  2008-12-25       Impact factor: 3.996
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