(Q34388085)

1 August 2017

1 reference

title

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome (English)

1 reference

1 August 2017

Lina S Correa-Cerro

1

1 reference

PubMed ID

15670717

1 August 2017

Forbes D Porter

series ordinal

2

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1 August 2017

19 December 2004

1 reference

Molecular Genetics and Metabolism

1 August 2017

1 reference

1 August 2017

84

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1 August 2017

112-126

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1 August 2017

2

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Desmosterol in human milk

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Alterations of cholesterol synthesis precursors (7-dehydrocholesterol, 7-dehydrodesmosterol, desmosterol) in dysmyelinating neurological mutant mouse (quaking, shiverer and trembler) in the PNS and the CNS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mevalonate kinase map position 12q24

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Clinical phenotype of desmosterolosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malforma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Molecular cloning and expression of the human delta7-sterol reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Cholesterol biosynthesis from lanosterol. A concerted role for Sp1 and NF-Y-binding sites for sterol-mediated regulation of rat 7-dehydrocholesterol reductase gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Differential transcriptional regulation of the human squalene synthase gene by sterol regulatory element-binding proteins (SREBP) 1a and 2 and involvement of 5' DNA sequence elements in the regulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The conversion of 7-dehydrocholesterol into cholesterol

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The biological conversion of 7-dehydrocholesterol into cholesterol and comments on the reduction of double bonds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Evidence for requirement of NADPH-cytochrome P450 oxidoreductase in the microsomal NADPH-sterol Delta7-reductase system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Subcellular localization of sterol carrier protein-2 in rat hepatocytes: its primary localization to peroxisomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A new potent teratogen in CD rats inducing cleft palate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The human lamin B receptor/sterol reductase multigene family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Cloning by metabolic interference in yeast and enzymatic characterization of Arabidopsis thaliana sterol delta 7-reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Membrane-bound domain of HMG CoA reductase is required for sterol-enhanced degradation of the enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Topology of SREBP cleavage-activating protein, a polytopic membrane protein with a sterol-sensing domain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Direct binding of cholesterol to the purified membrane region of SCAP: mechanism for a sterol-sensing domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A new face for an old syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Nonsense-mediated mRNA decay in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Biochemical variants of Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Mutations in the human DHCR7 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Fetus with renal agenesis and Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.09.017

10.1016/J.YMGME.2004.09.017

7 January 2021

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

15670717