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Items: 1 to 20 of 121

1.

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Peng Y, Myers R, Zhang W, Alexov E.

Int J Mol Sci. 2018 Jan 4;19(1). pii: E141. doi: 10.3390/ijms19010141.

2.

Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients.

Thanapirom K, Suksawatamnuay S, Sukeepaisarnjaroen W, Tangkijvanich P, Treeprasertsuk S, Thaimai P, Wasitthankasem R, Poovorawan Y, Komolmit P.

BMC Gastroenterol. 2017 Apr 17;17(1):54. doi: 10.1186/s12876-017-0613-x.

3.

Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis.

Prabhu AV, Luu W, Sharpe LJ, Brown AJ.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt B):363-368. doi: 10.1016/j.jsbmb.2016.08.003. Epub 2016 Aug 9.

PMID:
27520299
4.

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Boland MR, Tatonetti NP.

Pharmacogenomics J. 2016 Oct;16(5):411-29. doi: 10.1038/tpj.2016.48. Epub 2016 Jul 12. Review.

5.

Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.

Prabhu AV, Luu W, Sharpe LJ, Brown AJ.

J Biol Chem. 2016 Apr 15;291(16):8363-73. doi: 10.1074/jbc.M115.699546. Epub 2016 Feb 17.

6.

Characterization of large deletions in the DHCR7 gene.

Lanthaler B, Hinderhofer K, Maas B, Haas D, Sawyer H, Burton-Jones S, Carter K, Suri M, Witsch-Baumgartner M.

Clin Genet. 2015 Aug;88(2):149-54. doi: 10.1111/cge.12454. Epub 2014 Oct 21.

PMID:
25040602
7.

A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness).

Strawbridge RJ, Deleskog A, McLeod O, Folkersen L, Kavousi M, Gertow K, Baldassarre D, Veglia F, Leander K, Gigante B, Kauhanen J, Rauramaa R, Smit AJ, Mannarino E, Giral P, Dehghan A, Hofman A, Franco OH, Humphries SE, Tremoli E, de Faire U, Gustafsson S, Östensson CG, Eriksson P, Öhrvik J, Hamsten A.

Diabetologia. 2014 Jun;57(6):1159-72. doi: 10.1007/s00125-014-3215-y. Epub 2014 Mar 25.

PMID:
24663808
8.

Polymorphisms in genetics of vitamin D metabolism confer susceptibility to ocular Behçet disease in a Chinese Han population.

Fang J, Hou S, Xiang Q, Qi J, Yu H, Shi Y, Zhou Y, Kijlstra A, Yang P.

Am J Ophthalmol. 2014 Feb;157(2):488-494.e6. doi: 10.1016/j.ajo.2013.10.010. Epub 2013 Nov 1.

PMID:
24184224
9.

Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.

Petta S, Grimaudo S, Marco VD, Scazzone C, Macaluso FS, Cammà C, Cabibi D, Pipitone R, Craxì A.

J Viral Hepat. 2013 Jul;20(7):486-93. doi: 10.1111/jvh.12072. Epub 2013 Mar 25.

PMID:
23730842
10.

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Witsch-Baumgartner M, Sawyer H, Haas D.

Eur J Hum Genet. 2013 Aug;21(8). doi: 10.1038/ejhg.2012.255. Epub 2013 Jan 16. No abstract available.

11.

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M.

Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28. No abstract available.

PMID:
22211794
12.

Smith-Lemli-Opitz syndrome among Arabs.

Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY.

Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18.

PMID:
21696385
13.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Koo G, Conley SK, Wassif CA, Porter FD.

Am J Med Genet A. 2010 Aug;152A(8):2094-8. doi: 10.1002/ajmg.a.33540.

14.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Nov 13 [updated 2013 Jun 20].

15.

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

Kolejáková K, Petrovic R, Futas J, Turcáni P, Durovcíková D, Chandoga J.

Gen Physiol Biophys. 2009 Mar;28(1):8-15.

PMID:
19390132
16.

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.

Szabó GP, Oláh AV, Kozak L, Balogh E, Nagy A, Blahakova I, Oláh E.

Eur J Pediatr. 2010 Jan;169(1):121-3. doi: 10.1007/s00431-009-0987-z. Epub 2009 Apr 14.

PMID:
19365639
17.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8.

PMID:
18249054
18.

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.

J Child Neurol. 2007 Nov;22(11):1297-300.

PMID:
18006960
19.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G.

J Med Genet. 2008 Apr;45(4):200-9. Epub 2007 Oct 26.

PMID:
17965227
20.

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

Waye JS, Eng B, Potter MA, Nowaczyk MJ, McFadden D, Langlois S.

Am J Med Genet A. 2007 Aug 1;143A(15):1799-801. No abstract available.

PMID:
17595012

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