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Results: 1 to 20 of 105

1.

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.

Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK.

J Clin Invest. 2002 Dec;110(11):1695-702.

PMID:
12464675
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families.

Eden ER, Naoumova RP, Burden JJ, McCarthy MI, Soutar AK.

Am J Hum Genet. 2001 Mar;68(3):653-60. Epub 2001 Feb 9.

PMID:
11179013
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia.

Jones C, Hammer RE, Li WP, Cohen JC, Hobbs HH, Herz J.

J Biol Chem. 2003 Aug 1;278(31):29024-30. Epub 2003 May 13.

PMID:
12746448
[PubMed - indexed for MEDLINE]
Free Article
4.

The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.

Mishra SK, Watkins SC, Traub LM.

Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16099-104. Epub 2002 Nov 25.

PMID:
12451172
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.

Soufi M, Rust S, Walter M, Schaefer JR.

Gene. 2013 May 25;521(1):200-3. doi: 10.1016/j.gene.2013.03.034. Epub 2013 Mar 17.

PMID:
23510778
[PubMed - indexed for MEDLINE]
6.

Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.

Eden ER, Sun XM, Patel DD, Soutar AK.

Hum Mol Genet. 2007 Nov 15;16(22):2751-9. Epub 2007 Aug 29.

PMID:
17761685
[PubMed - indexed for MEDLINE]
Free Article
7.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
8.

Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo.

Harada-Shiba M, Takagi A, Marutsuka K, Moriguchi S, Yagyu H, Ishibashi S, Asada Y, Yokoyama S.

Circ Res. 2004 Oct 29;95(9):945-52. Epub 2004 Oct 7.

PMID:
15472122
[PubMed - indexed for MEDLINE]
Free Article
9.

Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Soutar AK, Naoumova RP.

Nat Clin Pract Cardiovasc Med. 2007 Apr;4(4):214-25. Review.

PMID:
17380167
[PubMed - indexed for MEDLINE]
10.

Autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP.

Semin Vasc Med. 2004 Aug;4(3):241-8. Review.

PMID:
15630633
[PubMed - indexed for MEDLINE]
11.

Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).

Fellin R, Zuliani G, Arca M, Pintus P, Pacifico A, Montali A, Corsini A, Maioli M.

Nutr Metab Cardiovasc Dis. 2003 Oct;13(5):278-86.

PMID:
14717060
[PubMed - indexed for MEDLINE]
12.

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.

Atherosclerosis. 2011 Dec;219(2):663-6. doi: 10.1016/j.atherosclerosis.2011.08.004. Epub 2011 Aug 10.

PMID:
21872251
[PubMed - indexed for MEDLINE]
13.

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

Norman D, Sun XM, Bourbon M, Knight BL, Naoumova RP, Soutar AK.

J Clin Invest. 1999 Sep;104(5):619-28.

PMID:
10487776
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene.

Barbagallo CM, Emmanuele G, Cefalù AB, Fiore B, Noto D, Mazzarino MC, Pace A, Brogna A, Rizzo M, Corsini A, Notarbartolo A, Travali S, Averna MR.

Atherosclerosis. 2003 Feb;166(2):395-400. Review.

PMID:
12535754
[PubMed - indexed for MEDLINE]
15.

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

Al-Kateb H, Bähring S, Hoffmann K, Strauch K, Busjahn A, Nürnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC.

Circ Res. 2002 May 17;90(9):951-8.

PMID:
12016260
[PubMed - indexed for MEDLINE]
Free Article
16.

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

Jones C, Garuti R, Michaely P, Li WP, Maeda N, Cohen JC, Herz J, Hobbs HH.

J Clin Invest. 2007 Jan;117(1):165-74.

PMID:
17200716
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.

Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.

J Hum Genet. 2001;46(3):152-4.

PMID:
11310584
[PubMed - indexed for MEDLINE]
18.

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, Ho YK, Garcia JV, Hobbs HH, Cohen JC.

Hum Mol Genet. 2002 Nov 15;11(24):3019-30.

PMID:
12417523
[PubMed - indexed for MEDLINE]
Free Article
19.

A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.

Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion MA, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M; Spanish Group of FH.

Hum Mutat. 2002 Dec;20(6):477.

PMID:
12442279
[PubMed - indexed for MEDLINE]
20.

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia.

Soutar AK, Naoumova RP, Traub LM.

Arterioscler Thromb Vasc Biol. 2003 Nov 1;23(11):1963-70. Epub 2003 Sep 4. Review.

PMID:
12958046
[PubMed - indexed for MEDLINE]
Free Article

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