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Items: 1 to 20 of 85

1.

Mutation in CYP27A1 identified in family with coronary artery disease.

Inanloorahatloo K, Zand Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Fan JB, Amini S, Steemers F, Elahi E.

Eur J Med Genet. 2013 Dec;56(12):655-60. doi: 10.1016/j.ejmg.2013.09.008. Epub 2013 Sep 28.

PMID:
24080357
2.

Mutation in ST6GALNAC5 identified in family with coronary artery disease.

InanlooRahatloo K, Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Kramer M, Fan JB, Turk C, Amini S, Steemers F, Gunderson K, Ronaghi M, Elahi E.

Sci Rep. 2014 Jan 8;4:3595. doi: 10.1038/srep03595.

3.

Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.

Nozue T, Higashikata T, Inazu A, Kawashiri MA, Nohara A, Kobayashi J, Koizumi J, Yamagishi M, Mabuchi H.

Intern Med. 2010;49(12):1127-31. Epub 2010 Jun 15.

4.

Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family.

Xu DL, Tian HL, Cai WL, Zheng J, Gao M, Zhang MX, Zheng ZT, Lu QH.

Mol Med Rep. 2016 Jul;14(1):649-54. doi: 10.3892/mmr.2016.5297. Epub 2016 May 18.

5.
6.

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Hansson M, Olin M, Floren CH, von Bahr S, van't Hooft F, Meaney S, Eggertsen G, Björkhem I.

J Intern Med. 2007 May;261(5):504-10.

7.

Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia.

Giraldo-Chica M, Acosta-Baena N, Urbano L, Velilla L, Lopera F, Pineda N.

Biomedica. 2015 Oct-Dec;35(4):563-71. doi: 10.7705/biomedica.v35i4.2690.

8.

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH.

Eur J Med Genet. 2012 Jan;55(1):71-4. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16.

PMID:
21958693
9.

Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence.

Hassanein SI, Abu El Maaty MA, Sleem HM, Gad MZ.

Biomarkers. 2014 Sep;19(6):488-92. doi: 10.3109/1354750X.2014.939226. Epub 2014 Jul 8.

PMID:
25003556
10.

Whole-exome sequencing in individuals with multiple cardiovascular risk factors and normal coronary arteries.

Abramowitz Y, Roth A, Keren G, Isakov O, Shomron N, Laitman Y, Weissglas-Volkov D, Arbel Y, Banai S, Finkelstein A, Friedman E.

Coron Artery Dis. 2016 Jun;27(4):257-66. doi: 10.1097/MCA.0000000000000357.

PMID:
26905423
11.

An alternative pathway of reverse cholesterol transport: the oxysterol 27-hydroxycholesterol.

Weingärtner O, Laufs U, Böhm M, Lütjohann D.

Atherosclerosis. 2010 Mar;209(1):39-41. doi: 10.1016/j.atherosclerosis.2009.09.015. Epub 2009 Sep 16.

PMID:
19801147
12.

Role of vitamin D levels and vitamin D receptor polymorphisms in relation to coronary artery disease: the Indian atherosclerosis research study.

Shanker J, Maitra A, Arvind P, Nair J, Dash D, Manchiganti R, Rao VS, Radhika KN, Hebbagodi S, Kakkar VV.

Coron Artery Dis. 2011 Aug;22(5):324-32. doi: 10.1097/MCA.0b013e3283472a57.

PMID:
21610492
13.

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.

Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS.

Ophthalmology. 2013 May;120(5):956-60. doi: 10.1016/j.ophtha.2012.10.032. Epub 2013 Jan 31.

PMID:
23375591
14.

[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].

Lionnet C, Carra C, Ayrignac X, Levade T, Gayraud D, Castelnovo G, Besson G, Androdias G, Vukusic S, Confavreux C, Zaenker C, De Seze J, Collongues N, Blanc F, Tranchant C, Wallon D, Hannequin D, Gerdelat-Mas A, Brassat D, Clanet M, Zephir H, Outteryck O, Vermersch P, Labauge P.

Rev Neurol (Paris). 2014 Jun-Jul;170(6-7):445-53. doi: 10.1016/j.neurol.2014.01.675. Epub 2014 Apr 16. French.

PMID:
24746394
15.

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.

Schneider H, Lingesleben A, Vogel HP, Garuti R, Calandra S.

Orphanet J Rare Dis. 2010 Oct 6;5:27. doi: 10.1186/1750-1172-5-27.

16.

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.

Tian D, Zhang ZQ.

BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.

17.

Adiponectin I164T mutation is associated with the metabolic syndrome and coronary artery disease.

Ohashi K, Ouchi N, Kihara S, Funahashi T, Nakamura T, Sumitsuji S, Kawamoto T, Matsumoto S, Nagaretani H, Kumada M, Okamoto Y, Nishizawa H, Kishida K, Maeda N, Hiraoka H, Iwashima Y, Ishikawa K, Ohishi M, Katsuya T, Rakugi H, Ogihara T, Matsuzawa Y.

J Am Coll Cardiol. 2004 Apr 7;43(7):1195-200.

18.

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

Bourkiza R, Joyce S, Patel H, Chan M, Meyer E, Maher ER, Reddy MA.

Ophthalmic Genet. 2010 Jun;31(2):73-6. doi: 10.3109/13816810903584963.

PMID:
20450308
19.

Evidence for a role of sterol 27-hydroxylase in glucocorticoid metabolism in vivo.

Vögeli I, Jung HH, Dick B, Erickson SK, Escher R, Funder JW, Frey FJ, Escher G.

J Endocrinol. 2013 Oct 4;219(2):119-29. doi: 10.1530/JOE-13-0141. Print 2013 Nov.

20.

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.

Wang Z, Yuan Y, Zhang W, Zhang Y, Feng L.

Neuropathology. 2007 Feb;27(1):62-6.

PMID:
17319284

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