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Items: 1 to 20 of 95

1.

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.

Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP.

Atherosclerosis. 2012 Dec;225(2):370-5. doi: 10.1016/j.atherosclerosis.2012.10.026. Epub 2012 Oct 11.

PMID:
23102784
2.

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
3.

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.

4.

Identification of the (Pro)renin Receptor as a Novel Regulator of Low-Density Lipoprotein Metabolism.

Lu X, Meima ME, Nelson JK, Sorrentino V, Loregger A, Scheij S, Dekkers DH, Mulder MT, Demmers JA, M-Dallinga-Thie G, Zelcer N, Danser AH.

Circ Res. 2016 Jan 22;118(2):222-9. doi: 10.1161/CIRCRESAHA.115.306799. Epub 2015 Nov 18.

5.

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.

6.

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gosiengfiao S, Fadriguilan E, George P, Laurie A.

J Atheroscler Thromb. 2005;12(5):276-83.

7.

Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.

Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M.

Pediatrics. 1995 Aug;96(2 Pt 1):239-46.

PMID:
7630677
8.

Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.

Kjolby M, Andersen OM, Breiderhoff T, Fjorback AW, Pedersen KM, Madsen P, Jansen P, Heeren J, Willnow TE, Nykjaer A.

Cell Metab. 2010 Sep 8;12(3):213-23. doi: 10.1016/j.cmet.2010.08.006.

9.

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
10.

Sortilin and the risk of cardiovascular disease.

Coutinho MF, Bourbon M, Prata MJ, Alves S.

Rev Port Cardiol. 2013 Oct;32(10):793-9. doi: 10.1016/j.repc.2013.02.006. Epub 2013 Jul 31. Review. English, Portuguese.

PMID:
23910371
11.

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.

Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7.

PMID:
18279815
12.

Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.

Soufi M, Kurt B, Schweer H, Sattler AM, Klaus G, Zschocke J, Schaefer JR.

Atheroscler Suppl. 2009 Dec 29;10(5):5-11. doi: 10.1016/S1567-5688(09)71802-1.

PMID:
20129366
13.

ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.

He G, Gupta S, Yi M, Michaely P, Hobbs HH, Cohen JC.

J Biol Chem. 2002 Nov 15;277(46):44044-9. Epub 2002 Sep 8.

14.

Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.

Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun LD, Lupien PJ, Després JP.

Atherosclerosis. 1996 Sep 27;126(1):163-71.

PMID:
8879444
15.

Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family.

Levy E, Minnich A, Cacan SL, Thibault L, Giroux LM, Davignon J, Lambert M.

Biochem Mol Med. 1997 Feb;60(1):59-69.

PMID:
9066982
16.

Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.

Al-Rasadi K, Al-Waili K, Al-Zidi WA, Al-Abri AR, Al-Hinai AT, Al-Sabti HA, Al-Tobi S, Al-Zakwani I, Al-Zadjali F, Al-Hashmi K, Banerjee Y.

Angiology. 2014 Nov;65(10):911-8. doi: 10.1177/0003319713510059. Epub 2013 Nov 17.

PMID:
24249837
17.

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S.

Arterioscler Thromb Vasc Biol. 2000 Sep;20(9):E41-52.

18.

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.

19.

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark.

Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N.

Atherosclerosis. 1996 Feb;120(1-2):57-65.

PMID:
8645371
20.

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, van Roggen FG, van der Westhuyzen DR, Coetzee GA.

Hum Genet. 1993 Mar;91(2):141-7.

PMID:
8462973

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