DHCR7 Gene

Aliases
for DHCR7 gene

Previous GC identifers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439

Summaries
for DHCR7 gene

Genomic Views
for DHCR7 gene

RefSeq DNA sequence:

NC_000011.9  NC_018922.1  NT_167190.1  

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHCR7 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DHCR7

DHCR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M071145:  view genomic region     (about GC identifiers)

Proteins
for DHCR7 gene

Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 2): DHCR7 OriGene Custom Protein Services for DHCR7
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	Novus Biologicals DHCR7 Protein Novus Biologicals DHCR7 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DHCR7

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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	Novus Biologicals DHCR7 Antibodies
	Abcam antibodies for DHCR7
	Uscn Antibodies for DHCR7
	Search ThermoFisher Antibodies for DHCR7

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	GenScript Custom Assay Services for DHCR7
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	Uscn ELISAs and CLIAs for DHCR7

Protein Domains /
Families
for DHCR7 gene

ProtoNet protein and cluster: Q9UBM7

Function
for DHCR7 gene

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

(inferred from 3 alleles) (MGI details for Dhcr7)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DHCR7

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DHCR7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHCR7
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DHCR7
		SwitchGear 3'UTR luciferase reporter plasmid: DHCR7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DHCR7 (see all 7) OriGene shRNA RFP: DHCR7 OriGene siRNA: DHCR7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DHCR7
		Sirion Biotech Custom design and validation of potent shRNA sequences against DHCR7

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DHCR7
			Sirion Biotech Customized adenovirus for overexpression of DHCR7  Sirion Biotech Customized adenovirus for potent knockdown of DHCR7

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DHCR7 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

Pathways & Interactions
for DHCR7 gene

	Super-pathway	contained gene-specific pathways
1	cholesterol biosynthesis III (via desmosterol)	cholesterol biosynthesis III (via desmosterol) 1.00 cholesterol biosynthesis II (via 24,25-dihydrolanosterol) 1.00 cholesterol biosynthesis I 1.00 Steroid biosynthesis 0.60
2	Metabolism	Metabolism 1.00 Metabolism of lipids and lipoproteins 0.34 Metabolic pathways 0.38
3	Cholesterol biosynthesis	Cholesterol biosynthesis 1.00 Cholesterol Biosynthesis 0.68 superpathway of cholesterol biosynthesis 0.81
4	Regulation of Cholesterol Biosynthesis by SREBP (SREBF)	Regulation of Cholesterol Biosynthesis by SREBP (SREBF) 1.00 Activation of Gene Expression by SREBP (SREBF) 0.67
5	Expression of Mevalonate Kinase (MVK)	Expression of 7-Dehydrocholesterol Reductase (DHCR7) 0.75

5 BioSystems Pathways for DHCR7

	Cholesterol Biosynthesis
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis I
	cholesterol biosynthesis III (via desmosterol)

5/6        Reactome Pathways for DHCR7

	Metabolism
	Cholesterol biosynthesis
	Expression of 7-Dehydrocholesterol Reductase (DHCR7)
	Activation of Gene Expression by SREBP (SREBF)
	Metabolism of lipids and lipoproteins

2         Kegg Pathways  (Kegg details for DHCR7)

	Steroid biosynthesis
	Metabolic pathways

DHCR7 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DHCR7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/139 Interacting proteins for DHCR7 (Q9UBM7^{2, 3} ENSP00000347717⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 139)

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

Drugs & Compounds
for DHCR7 gene

Transcripts
for DHCR7 gene

Expression
for DHCR7 gene

DHCR7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCGTTTCCTT

About this image
See DHCR7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DHCR7

SOURCE GeneReport for Unigene cluster: Hs.503134

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DHCR7 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DHCR7
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DHCR7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DHCR7

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

Orthologs
for DHCR7 gene

Paralogs
for DHCR7 gene

Paralogs for DHCR7 gene

LBR²  TM7SF2²  

2 SIMAP similar genes for DHCR7 using alignment to 11 protein entries:     DHCR7_HUMAN (see all proteins):

LBR    TM7SF2

DHCR7 for paralogs           About GeneDecksing

Genomic Variants
for DHCR7 gene

10/405 NCBI SNPs in DHCR7 are shown (see all 405)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1048860331,2	C	pathogenic	100501683(-)	GCCCAA/GTGGCT	4	M V	mis1		0	--	--	--	--
rs1219097671,2	C	pathogenic	100501685(-)	CCAATG/AGCTGC	4	/I /M	mis1		1		NA	4552
rs803388531,2	C	pathogenic	100502599(-)	TATAAC/TGAGGA	4	T M	mis1		1		NA	4538
rs1048860391,2	C	pathogenic	100502613(-)	CCGCCC/TAGCTC	4	Q *	stg1		1		EU	1225
rs115552171,2	C,F	pathogenic	100505234(-)	AGCCTA/C/GGCTCC	6	* S W	stg1 mis1		5		EA NA EU	5987
rs1048942131,2	C	pathogenic	100505235(-)	GCCTGA/GCTCCT	4	* W	stg1		0	--	--	--	--
rs803388561,2	C	pathogenic	100507649(-)	ATGGGC/TGCCCC	4	R C	mis1		1		NA	4548
rs803388571,2	C	pathogenic	100507650(-)	TGGGCA/GCCCCG	4	H R	mis1		0	--	--	--	--
rs1048942121,2	C	pathogenic	100507669(-)	GCCTGG/TACCCT	4	W C	mis1		0	--	--	--	--
rs803388581,2	C	pathogenic	100508766(-)	CACTTC/G/TGGGTG	6	F L	mis1 syn1		1		NA	4552

HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DHCR7: --
Human Gene Mutation Database (HGMD): DHCR7

Locus Specific Mutation Databases (LSDB): DHCR7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DHCR7

DNA2.0 Custom Variant and Variant Library Synthesis for DHCR7

Disorders / Diseases
for DHCR7 gene

20/24 diseases for DHCR7

9 Novoseek disease relationships for DHCR7 gene    About this table

Publications
for DHCR7 gene

PubMed articles for DHCR7 gene, integrated from 9 sources (see all 169) (see top 10): (articles sorted by number of sources associating them with DHCR7)

Utopia: connect your pdf to the dynamic world of online information

1. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PubMed id 9634533)^{1, 2, 3, 9} Wassif C.A.... Porter F.D. (1998)
2. Molecular cloning and expression of the human delta7-sterol reductase. (PubMed id 9465114)^{1, 2, 3} Moebius F.F.... Glossmann H. (1998)
3. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. (PubMed id 11175299)^{1, 2, 9} Witsch-Baumgartner M.... Utermann G. (2001)
4. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 15954111)^{1, 2, 9} Waye J.S.... Porter F.D. (2005)
5. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (PubMed id 11427181)^{1, 2, 9} Jira P.E....Waterham H.R. (2001)
6. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (PubMed id 9683613)^{1, 2, 9} Waterham H.R.... Wanders R.J.A. (1998)
7. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PubMed id 15286151)^{1, 4, 9} Witsch-Baumgartner M....Utermann G. (2004)
8. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. (PubMed id 15521979)^{1, 4, 9} Ciara E....Krajewska-Walasek M. (2004)
9. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. (PubMed id 11503168)^{1, 4, 9} Nowaczyk M.J....Waye J.S. (2001)
10. Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (PubMed id 10677299)^{1, 2, 9} Witsch-Baumgartner M.... Utermann G. (2000)
11. The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)^{1, 2, 9} Holmer L.... Worman H.J. (1998)
12. Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. (PubMed id 12949967)^{1, 2, 9} Langius F.A.... Poll-The B.T. (2003)
13. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. (PubMed id 11161831)^{1, 4, 9} Battaile K.P....Steiner R.D. (2001)
14. Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. (PubMed id 9653161)^{1, 2, 9} Fitzky B.U.... Moebius F.F. (1998)
15. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
16. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. (PubMed id 10995508)^{1, 2} Krakowiak P.A.... Porter F.D. (2000)
17. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. (PubMed id 17441222)^{1, 9} Waye J.S....Nowaczyk M.J. (2007)
18. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. (PubMed id 19390132)^{1, 9} KolejA!kovA! K....Chandoga J. (2009)
19. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PubMed id 17965227)^{1, 9} Witsch-Baumgartner M....Utermann G. (2008)
20. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (PubMed id 15979035)^{1, 9} Cardoso M.L....Vilarinho L. (2005)
21. A patient with Smith-Lemli-Opitz syndrome: novel muta tion of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. (PubMed id 19365639)^{1, 9} SzabA^ G.P....OlA!h E. (2010)
22. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. (PubMed id 15776424)^{1, 9} Witsch-Baumgartner M....Utermann G. (2005)
23. Steroid production and excretion by the pregnant mous e, particularly in relation to pregnancies with fetuses deficient in Delta7-ste rol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. (PubMed id 19406241)^{1, 9} Matabosch X....Shackleton C. (2009)
24. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. (PubMed id 10814720)^{1, 9} Yu H....Tint G.S. (2000)
25. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. (PubMed id 11078571)^{1, 9} Loffler J....Utermann G. (2000)
26. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. (PubMed id 11111101)^{1, 9} Waterham H.R. and Wanders R.J. (2000)
27. Induction of a massive endoplasmic reticulum and peri nuclear space expansion by expression of lamin B receptor mutants and the relat ed sterol reductases TM7SF2 and DHCR7. (PubMed id 19940018)^{1, 9} Zwerger M....Herrmann H. (2010)
28. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. (PubMed id 18285838)^{6, 9} Porter F.D. (2008)
29. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PubMed id 16497572)^{1, 9} Ciara E....Krajewska-Walasek M. (2006)
30. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. (PubMed id 11857552)^{1, 9} Prasad C....Nowaczyk M.J. (2002)
31. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. (PubMed id 11298379)^{1, 9} Nowaczyk M.J....Waye J.S. (2001)
32. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. (PubMed id 18249054)^{1, 9} Jezela-Stanek A....Krajewska-Walasek M. (2008)
33. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. (PubMed id 18006960)^{1, 9} Jong Hee Chae ....Kim J.W. (2007)
34. De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. (PubMed id 17595012)^{1, 9} Waye J.S....Langlois S. (2007)
35. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. (PubMed id 14981719)^{1, 9} Nowaczyk M.J....Waye J.S. (2004)
36. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. (PubMed id 14556255)^{1, 9} Mueller C....Bay C. (2003)
37. DHCR7 and Smith-Lemli-Opitz syndrome. (PubMed id 11767235)^{1, 9} Nowaczyk M.J....Waye J.S. (2001)
38. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. (PubMed id 11562938)^{1, 9} Nowaczyk M.J....Porter F.D. (2001)
39. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. (PubMed id 10719329)^{1, 9} Linck L.M....Steiner R.D. (2000)
40. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. (PubMed id 10602371)^{1, 9} De Brasi D....Andria G. (1999)
41. Associations between common variants in GC and DHCR7/N ADSYN1 and vitamin D concentration in Chinese Hans. (PubMed id 21972121)¹ Lu L....Lin X. (2012)
42. Associations between polymorphisms related to calcium metabolism and human height: the Tromso Study. (PubMed id 22390397)¹ Jorde R....Grimnes G. (2012)
43. DHCEO accumulation is a critical mediator of pathophys iology in a Smith-Lemli-Opitz syndrome model. (PubMed id 22182693)¹ Xu L....Korade Z. (2012)
44. The GC, CYP2R1 and DHCR7 genes are associated with vit amin D levels in northeastern Han Chinese children. (PubMed id 22801813)¹ Zhang Y....Ren L. (2012)
45. ANKRD55 and DHCR7 are novel multiple sclerosis risk lo ci. (PubMed id 22130326)¹ Alloza I....Vandenbroeck K. (2012)
46. Smith-Lemli-Opitz syndrome among Arabs. (PubMed id 21696385)¹ Al-Owain M....Al-Aama J.Y. (2012)
47. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
48. Common genetic variation in vitamin D metabolism is as sociated with liver stiffness. (PubMed id 22576297)¹ Grunhage F....Lammert F. (2012)
49. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
50. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
51. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
52. Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. (PubMed id 21441443)¹ Cooper J.D....Todd J.A. (2011)
53. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
54. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
55. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
56. Discordant phenotype and sterol biochemistry in Smith -Lemli-Opitz syndrome. (PubMed id 20635399)¹ Koo G....Porter F.D. (2010)
57. Genome-wide association study of circulating vitamin D levels. (PubMed id 20418485)¹ Ahn J....Albanes D. (2010)
58. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
59. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
60. Common genetic determinants of vitamin D insufficienc y: a genome-wide association study. (PubMed id 20541252)¹ Wang T.J....Spector T.D. (2010)
61. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)¹ Jugessur A....Murray J.C. (2010)
62. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)¹ Dagle J.M....Murray J.C. (2009)
63. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
64. Genes related to sex steroids, neural growth, and soc ial-emotional behavior are associated with autistic traits, empathy, and Asperg er syndrome. (PubMed id 19598235)¹ Chakrabarti B....Baron-Cohen S. (2009)
65. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)² Oppermann F.S.... Daub H. (2009)
66. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
67. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
68. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)¹ Lu Y....Boer J.M. (2008)
69. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery. (PubMed id 17855807)¹ Steffen K.M....Murray J.C. (2007)
70. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)¹ Ewing R.M.... Figeys D. (2007)
71. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
72. How many drug targets are there? (PubMed id 17139284)⁷ Overington J.P....Hopkins A.L. (2006)
73. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)⁷ Imming P....Meyer A. (2006)
74. Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)¹ Matsumoto M....Nakayama K.I. (2005)
75. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
76. Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. (PubMed id 12833423)¹ Nowaczyk M.J....Sirkin W.L. (2003)
77. Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. (PubMed id 12794707)¹ Wright B.S....Nowaczyk M.J. (2003)
78. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. (PubMed id 12116246)¹ Nezarati M.M....Graham G.E. (2002)
79. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
80. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. (PubMed id 7560069)¹ Shefer S....Holick M.F. (1995)
81. Smith-Lemli-Opitz Syndrome (PubMed id 20301322)¹ Irons M. (1993)
82. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. (PubMed id 17408495)⁹ Yu H....Patel S.B. (2007)
83. Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. (PubMed id 16687448)⁹ Koide T....Cho K.W. (2006)
84. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. (PubMed id 15862627)⁹ Yu H....Patel S.B. (2005)
85. Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. (PubMed id 16181459)⁹ Anstey A.V....Bowden P.E. (2005)
86. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. (PubMed id 12224080)⁹ Loeffler J....Witsch-Baumgartner M. (2002)
87. Molecular consequences of altered neuronal cholesterol biosynthesis. (PubMed id 18951487)⁹ Korade Z....Mirnics K. (2009)
88. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (PubMed id 16392899)⁹ Romano F....Travali S. (2005)
89. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. (PubMed id 15464432)⁹ Ginat S....Steiner R.D. (2004)
90. Smith-Lemli-Opitz syndrome and the DHCR7 gene. (PubMed id 12914579)⁹ Jira P.E....Wevers R.A. (2003)
91. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. (PubMed id 15670717)⁹ Correa-Cerro L.S. and Porter F.D. (2005)
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93. A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. (PubMed id 10627944)⁹ Battaile K.P....Steiner R.D. (1999)
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95. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. (PubMed id 16678134)⁹ Weinhofer I....Berger J. (2006)
96. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. (PubMed id 15896653)⁹ Wassif C.A....Porter F.D. (2005)
97. A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. (PubMed id 15013448)⁹ Shim Y.H....Paik Y.K. (2004)
98. A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrom e infant presenting with neonatal cholestasis. (PubMed id 20052364)⁹ Ko J.S....Kim J.W. (2010)
99. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as cand idate genes. (PubMed id 19449411)⁹ Zechi-Ceide R.M....Richieri-Costa A. (2009)
100. Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. (PubMed id 16814115)⁹ Chignell C.F....He Y.Y. (2006)
101. Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. (PubMed id 16280635)⁹ Waage-Baudet H....Sulik K.K. (2005)
102. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. (PubMed id 16044199)⁹ Matsumoto Y....Matsuura S. (2005)
103. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. (PubMed id 15005800)⁹ Yu H....Patel S.B. (2004)
104. Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. (PubMed id 12270273)⁹ Patrono C....Santorelli F.M. (2002)
105. Mutations in the human DHCR7 gene. (PubMed id 11241839)⁹ Witsch-Baumgartner M....Utermann G. (2001)
106. 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. (PubMed id 10329655)⁹ Bae S.H....Paik Y.K. (1999)
107. Biochemical variants of Smith-Lemli-Opitz syndrome. (PubMed id 10405455)⁹ Neklason D.W....Metherall J.E. (1999)
108. Cholesterol biosynthesis inhibited by BM15.766 induces holoprosencephaly in the rat. (PubMed id 9358606)⁹ Kolf-Clauw M....Roux C. (1997)
109. Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. (PubMed id 8987154)⁹ Kolf-Clauw M....Roux C. (1996)
110. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrom e: First reported case and consideration of mechanism. (PubMed id 20104611)⁹ Weaver D.D....Muenke M. (2010)
111. Activation of Rho GTPases in Smith-Lemli-Opitz syndro me: pathophysiological and clinical implications. (PubMed id 20067919)⁹ Jiang X.S....Porter F.D. (2010)
112. Colony-stimulating factor-1 (CSF-1) delivers a proatherogenic signal to human macrophages. (PubMed id 19004987)⁹ Irvine K.M....Sweet M.J. (2009)
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114. Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. (PubMed id 19886368)⁹ Pizzo G....Giuliana G. (2008)
115. Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. (PubMed id 18442819)⁹ Liss J....Rebala K. (2008)
116. Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. (PubMed id 18776762)⁹ Oslejskova H....Valik D. (2008)
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118. Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. (PubMed id 17493586)⁹ Singh P....Chattopadhyay A. (2007)
119. Photosensitivity in Smith-Lemli-Opitz syndrome: A flux balance analysis of altered metabolism. (PubMed id 18188427)⁹ Eapen B.R. (2007)
120. Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. (PubMed id 17994283)⁹ Blahakova I....Kozak L. (2007)
121. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 17497248)⁹ Haas D....Burgard P. (2007)
122. Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS. (PubMed id 17904101)⁹ Chattopadhyay A....Vairamani M. (2007)
123. A dual role for 7-dehydrocholesterol reductase in regulating Hedgehog signalling? (PubMed id 17008445)⁹ Bijlsma M.F....Spek C.A. (2006)
124. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. (PubMed id 16451140)⁹ Jezela-Stanek A....Krajewska-Walasek M. (2006)
125. Drug-induced activation of SREBP-controlled lipogenic gene expression in CNS-related cell lines: marked differences between various antipsychotic drugs. (PubMed id 17052361)⁹ Ferno J....Steen V.M. (2006)
126. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? (PubMed id 16906538)⁹ Nowaczyk M.J....Douketis J.D. (2006)
127. Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development. (PubMed id 16752377)⁹ Tadjuidje E. and Hollemann T. (2006)
128. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. (PubMed id 16446309)⁹ Correa-Cerro L.S....Porter F.D. (2006)
129. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. (PubMed id 16097001)⁹ Shinawi M....Potocki L. (2005)
130. Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells. (PubMed id 15802376)⁹ Monroe D.G....Spelsberg T.C. (2005)
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132. Recent insights into the Smith-Lemli-Opitz syndrome. (PubMed id 16207203)⁹ Yu H. and Patel S.B. (2005)
133. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. (PubMed id 15805162)⁹ Correa-Cerro L.S....Porter F.D. (2005)
134. Cholesterol-producing transgenic Caenorhabditis elegans lives longer due to newly acquired enhanced stress resistance. (PubMed id 15707967)⁹ Lee E.Y....Paik Y.K. (2005)
135. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. (PubMed id 15952211)⁹ Scalco F.B....Moretti-Ferreira D. (2005)
136. Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. (PubMed id 15514417)⁹ Lalovic A....Turecki G. (2004)
137. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. (PubMed id 14735596)⁹ Goldenberg A....Cormier-Daire V. (2004)
138. Investigation of completed suicide and genes involved in cholesterol metabolism. (PubMed id 15023477)⁹ Lalovic A....Turecki G. (2004)
139. Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. (PubMed id 14659996)⁹ Waage-Baudet H....Sulik K.K. (2003)
140. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PubMed id 12760743)⁹ Moebius F.F....Glossmann H. (2003)
141. Sterols in blood of normal and Smith-Lemli-Opitz subjects. (PubMed id 11352988)⁹ Ruan B....Schroepfer G.J. (2001)
142. Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder. (PubMed id 11471183)⁹ Witsch-Baumgartner M....Neuhaus C. (2001)
143. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. (PubMed id 11745994)⁹ Nowaczyk M.J....Porter F.D. (2001)
144. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. (PubMed id 11453964)⁹ Nowaczyk M.J. and Waye J.S. (2001)
145. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (PubMed id 11471166)⁹ Nowaczyk M.J....Porter F.D. (2001)
146. Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. (PubMed id 10899806)⁹ Tierney E....Kelley R.I. (2000)
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149. Role of cholesterol in embryonic development. (PubMed id 10799401)⁹ Roux C....Citadelle D. (2000)
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154. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). (PubMed id 8726234)⁹ Mills K....Clayton P.T. (1996)
155. Cloning by metabolic interference in yeast and enzymatic characterization of Arabidopsis thaliana sterol delta 7-reductase. (PubMed id 8631902)⁹ Lecain E....Pompon D. (1996)
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157. New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. (PubMed id 19715468)⁹ Skrzypczak-Zielinska M....Froster U.G. (2009)
158. Estradiol stimulates vasodilatory and metabolic pathw ays in cultured human endothelial cells. (PubMed id 20011585)⁹ Sobrino A....Hermenegildo C. (2009)
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