Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith–Lemli–Opitz syndrome-Reference-Cited by-同舟云学术

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Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith–Lemli–Opitz syndrome

Published:2004-09 Issue:1-2 Volume:83 Page:175-183
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ginat Sharon,Battaile Kevin P.,Battaile Brian C.,Maslen Cheryl,Gibson K. Michael,Steiner Robert D.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference48 articles.

1. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith–Lemli–Opitz syndrome;Battaile;Mol. Genet. Metab.,2001

2. Frequency and ethnic distribution of the common DHCR7 mutation in Smith–Lemli–Opitz syndrome;Nowaczyk;Am. J. Med. Genet.,2001

3. Borderline normal intelligence in the Smith–Lemli–Opitz (RSH) syndrome;Lowry;Am. J. Med. Genet.,1980

4. Smith–Lemli–Opitz syndrome: a variable clinical and biochemical phenotype;Ryan;J. Med. Genet.,1998

5. Incidence of Smith–Lemli–Opitz syndrome in Slovakia;Bzduch;Am. J. Med. Genet.,2000

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1. Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis;Nature Communications;2024-03-12

2. Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review;The Pharmacogenomics Journal;2016-07-12

3. Mutational spectrum of Smith-Lemli-Opitz syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2012-10-05

4. Smith–Lemli–Opitz syndrome;Expert Reviews in Molecular Medicine;2011-07

5. 46,XY DSD due to impaired androgen production;Best Practice & Research Clinical Endocrinology & Metabolism;2010-04

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