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DHCR7 gene
Known as:
7-DEHYDROCHOLESTEROL REDUCTASE
, DHCR7
, STEROL DELTA-7-REDUCTASE
National Institutes of Health
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Related topics
Related topics
1 relation
7-dehydrocholesterol reductase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
A new class of selective and potent 7-dehydrocholesterol reductase inhibitors.
Aline Horling
,
C. Müller
,
R. Barthel
,
F. Bracher
,
P. Imming
Journal of Medicinal Chemistry
2012
Corpus ID: 5420737
We prepared a number of N-phenethyltetrahydroisoquinolines structurally related to protoberberines. They were tested for activity…
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Review
2011
Review
2011
Epiphyseal stippling is not a feature of 7‐dehydrocholesterol reductase deficiency (Smith‐Lemli‐Opitz syndrome)
Małgorzata J. M. Nowaczyk
American Journal of Medical Genetics. Part A
2011
Corpus ID: 31134467
Smith-Lemli-Opitz syndrome (OMIM 270400) is a malformation syndrome caused by a defect of distal cholesterol synthesis…
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2010
2010
The role of the sterol sensing domain in HMG-CoA reductase regulation in Saccharomyces cerevisiae
Deeba Pourmand
2010
Corpus ID: 83451271
Sterol sensing domain (SSD) containing proteins are required for lipid regulation, and are conserved among different organisms. 3…
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2004
2004
DD–RT–PCR identifies 7-dehydrocholesterol reductase as a key marker of early Leydig cell steroidogenesis
M. Anbalagan
,
R. Yashwanth
,
A. Rao
Molecular and Cellular Endocrinology
2004
Corpus ID: 25565172
Review
2003
Review
2003
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].
A. Goldenberg
,
F. Chevy
,
C. Bernard
,
C. Wolf
,
V. Cormier-Daire
Archives de pédiatrie
2003
Corpus ID: 23485710
INTRODUCTION SLO (Smith-Lemli-Opitz) syndrome is an autosomal recessive multiple congenital malformations syndrome, including…
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2000
2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
C. Patrono
,
C. Rizzo
,
+7 authors
F. Santorelli
American journal of medical genetics
2000
Corpus ID: 46491431
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation…
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