Citations for
1ABCG5, ABCG8, STSL
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, Lo MY, Kwok CF, Kratz LE, Ho LT.
J Inherit Metab Dis 33(4):437-43. doi: 10.1007/s10545-010-9126-2. Epub 2010 Jun 3. 2010
2ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
Rahalkar AR, Hegele RA.
Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
3ABCG5, ABCG8, STSL, ABCB6
ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile.
Langheim S, Yu L, von Bergmann K, Lutjohann D, Xu F, Hobbs HH, Cohen JC.
J Lipid Res 46(8):1732-8. Epub 2005 Jun 1. 2005
4ABCG5, ABCG8, STSL
Phenotypic heterogeneity of sitosterolemia.
Wang J, Joy T, Mymin D, Frohlich J, Hegele RA.
J Lipid Res 45(12):2361-7. Epub 2004 Sep 16. 2004
5ABCG5, ABCG8, STSL
Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.
Repa JJ, Berge KE, Pomajzl C, Richardson JA, Hobbs H, Mangelsdorf DJ.
J Biol Chem 277(21):18793-800. Epub 2002 Mar 18. 2002
6STSL
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.
Lee MH, Gordon D, Ott J, Lu K, Ose L, Miettinen T, Gylling H, Stalenhoef AF, Pandya A, Hidaka H, Brewer B Jr, Kojima H, Sakuma N, Pegoraro R, Salen G, Patel SB.
Eur J Hum Genet 9(5):375-84. 2001
7STSL
High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.
Lu K, Lee MH, Carpten JD, Sekhon M, Patel SB.
Eur J Hum Genet 9(5):364-74. 2001
8ABCG5, ABCG8, STSL
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek JA, Berge KE, Cohen JC, Hobbs HH.
Hum Mutat 18(4):359-60. 2001
9STSL
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.
Patel SB, et al.
J Clin Invest 102 : 1041-1044. 1998