SCOPUS 정보 검색 플랫폼

Volumn 9, Issue 5, 2001, Pages 375-384

Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities

(16) Lee, Mi Hye a Gordon, Derek b Ott, Jurg b Lu, Kangmo a Ose, Leiv c Miettinen, Tatu d Gylling, Helena d Stalenhoef, Anton F e Pandya, Arti f Hidaka, Hideki g Brewer Jr , Bryan h Kojima, Hideto i Sakuma, Nagahiko j Pegoraro, Rosemary k Salen, Gerald l Patel, Shailendra B a

a MEDICAL UNIVERSITY OF SOUTH CAROLINA (United States)

b ROCKEFELLER UNIVERSITY (United States)

c OSLO UNIVERSITY HOSPITAL (Norway)

d HELSINKI UNIVERSITY CENTRAL HOSPITAL (Finland)

e RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

f VIRGINIA COMMONWEALTH UNIVERSITY (United States)

g SANYO ELECTRIC CO LTD (Japan)

h NATIONAL HEART LUNG AND BLOOD INSTITUTE (United States)

i SHIGA UNIVERSITY OF MEDICAL SCIENCE (Japan)

more..

Author keywords

Atheroscleoris; Cholesterol; Diet; Genetics; Homozygosity mapping; Linkage

Indexed keywords

CHOLESTEROL; SITOSTEROL;

ARTICLE; ATHEROSCLEROSIS; AUTOSOMAL DISORDER; BILE SECRETION; CHROMOSOME 2P; COMMUNITY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FAMILY; FINLAND; FOUNDER EFFECT; GENE LOCATION; GENE MAPPING; GENEALOGY; GENETIC MARKER; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOTHESIS; LIPID ABSORPTION; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MOLECULAR GENETICS; NORWAY; PHYSIOLOGY; POPULATION; PRIORITY JOURNAL; REGULATORY MECHANISM; SCORING SYSTEM; SITOSTEROLEMIA; TENDON; XANTHOMA;

ARTERIOSCLEROSIS; CHOLESTEROL, DIETARY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DIET; FOUNDER EFFECT; GENOTYPE; HAPLOTYPES; HOMOZYGOTE; HUMANS; INTESTINAL ABSORPTION; LINKAGE DISEQUILIBRIUM; METABOLIC DISEASES; MICROSATELLITE REPEATS; MODELS, GENETIC; PEDIGREE; PHYLOGENY; SITOSTEROLS;

EID: 0034980709 PISSN: 10184813 EISSN: None Source Type: Journal
DOI: 10.1038/sj.ejhg.5200628 Document Type: Article

Times cited : (33)

References (32)

1
- 0016366624
- Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters
- (1974) J Clin Invest , vol.53 , pp. 1033-1043
- Bhattacharyya, A.K.¹ Connor, W.E.²

2
- 0001003949
- in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. McGraw-Hill Inc., New York
- (1995) , pp. 2073-2102
- Bjorkhem, I.¹ Boberg, K.M.²

3
- 0026639212
- Sitosterolemia
- [Review]
- (1992) J Lipid Res , vol.33 , pp. 945-955
- Salen, G.¹ Shefer, S.² Nguyen, L.³

4
- 0032167658
- Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21
- (1998) J Clin Invest , vol.102 , pp. 1041-1044
- Patel, S.B.¹ Salen, G.² Hidaka, H.³

5
- 0025912236
- Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis
- (1991) Arteriosclerosis Thrombosis , vol.11 , pp. 1287-1294
- Bhattacharyya, A.K.¹ Connor, W.E.² Lin, D.S.³ McMurry, M.M.⁴ Shulman, R.S.⁵

6
- 0024451905
- Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis
- (1989) J Lipid Res , vol.30 , pp. 1319-1330
- Salen, G.¹ Shore, V.² Tint, G.S.³

7
- 0026766590
- Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia
- (1992) Arteriosclerosis Thrombosis , vol.12 , pp. 563-568
- Salen, G.¹ Tint, G.S.² Shefer, S.³ Shore, V.⁴ Nguyen, L.⁵

8
- 0022634330
- Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia
- (1986) Am J Hum Genet , vol.38 , pp. 492-504
- Beaty, T.H.¹ Kwiterovich P., Jr.² Khoury, M.J.³

9
- 0031895065
- Sitosterolemia: Exclusion of genes involved in reduced cholesterol biosynthesis
- (1998) J Lipid Res , vol.39 , pp. 1055-1061
- Patel, S.B.¹ Honda, A.² Salen, G.³

10
- 0019500525
- Hyperapoberalipoproteinaemia in two families with xanthomas and phytosterolaemia
- (1981) Lancet , vol.1 , pp. 466-469
- Kwiterovich P., Jr.¹ Bachorik, P.S.² Smith, H.H.³

11
- 0022197146
- Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis
- (1985) J Lipid Res , vol.26 , pp. 1126-1133
- Salen, G.¹ Horak, I.² Rothkopf, M.³

12
- 0025360188
- Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis
- (1990) J Lipid Res , vol.31 , pp. 881-888
- Hidaka, H.¹ Nakamura, T.² Aoki, T.³

13
- 0026907482
- Familial spinal xanthomatosis with sitosterolemia
- (1992) Int Med , vol.31 , pp. 1038-1042
- Hidaka, H.¹ Yasuda, H.² Kobayashi, M.³

14
- 0028123112
- Phytosterolaemia in three unrelated South African families
- (1994) Postgrad Med J , vol.70 , pp. 631-637
- Berger, G.M.¹ Deppe, W.M.² Marais, A.D.³ Biggs, M.⁴

15
- 0029972888
- Phytosterolaemia in a Norwegian family: Diagnosis and characterization of the first Scandinavian case
- (1996) Scand J Clin Lab Invest , vol.56 , pp. 229-240
- Lutjohann, D.¹ Bjokhem, I.² Ose, L.³

16
- 8244231921
- Beta-Sitosterolemia with generalized eruptive xanthomatosis
- (1997) Endocrin J , vol.44 , pp. 59-64
- Hidaka, H.¹ Sugiura, H.² Nakamura, T.³

17
- 15644382441
- 3-hydroxy 3-methylglutaryl coenzyme A reductase is not the site of the primary defect in phytosterolemia
- (1998) J Lipid Res , vol.39 , pp. 1046-1054
- Berger, G.M.¹ Pegoraro, R.J.² Patel, S.B.³

18
- 0003855440
- RECODE a program for recording base-pair sized alleles into interger-numbered alleles
- (2000)
- Weeks, D.E.¹

19
- 0004864443
- Handbook of Human Genetic Linkage. Johns Hopkins University Press, Baltimore
- (1994)
- Terwillinger, J.D.¹ Ott, J.²

20
- 0342499587
- Strategies for multilocus linkage analysis in humans
- (1984) Proc Natl Acad Sci USA , vol.81 , pp. 3443-3446
- Lathrop, G.M.¹ Lalouel, J.M.² Julier, C.³ Ott, J.⁴

21
- 0027366195
- Faster sequential genetic linkage computations
- (1993) Am J Hum Genet , vol.53 , pp. 252-263
- Cottingham R.W., Jr.¹ Indury, R.M.² Schaffer, A.A.³

22
- 0028260703
- Avoiding recomputation in linkage analysis
- (1994) Hum Hered , vol.44 , pp. 225-237
- Schaffer, A.A.¹ Gupta, S.K.² Shriram, K.³ Cottingham R.W., Jr.⁴

23
- 0029945706
- Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and markersharing statistics
- (1996) Am J Hum Genet , vol.58 , pp. 1323-1337
- Sobel, E.¹ Lange, K.²

24
- 0032231877
- Comprehensive human genetic maps: Individual and sex-specific variation in recombination
- (1998) Am J Hum Genet , vol.63 , pp. 861-869
- Broman, K.W.¹ Murray, J.C.² Sheffield, V.C.³ White, R.L.⁴ Weber, J.L.⁵

25
- 0028968329
- A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
- (1995) Am J Hum Genet , vol.56 , pp. 777-787
- Terwilliger, J.D.¹

26
- 0004833182
- Likelihood Expanded. Johns Hopkins University Press, Baltimore
- (1992)
- Edwards, A.F.W.¹

27
- 0004892670
- Analysis of Human Genetic Linkage. Johns Hopkins University Press, Baltimore
- (1999)
- Ott, J.¹

28
- 0004891971
- Amish and Amish Mennonite Genealogies. Pequea Publishers, Gordonville, PA
- (1986)
- Gingerich, H.F.¹ Kreider, R.W.²

29
- 0018841909
- Phytosterolaemia, xanthomatosis and premature athersclerotic arterial disease: A case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis
- (1980) Eur J Clin Invest , vol.10 , pp. 27-35
- Miettinen, T.A.¹

30
- 0026949420
- Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
- [published erratum appears in Nat Genet 1992 Dec;2(4):343]
- (1992) Nat Genet , vol.2 , pp. 204-211
- Hastbacka, J.¹ de la Chapelle, A.² Kaitila, I.³

31
- 0031409125
- Molecular background of the Finnish disease heritage
- (1997) Ann Med , vol.29 , pp. 553-556
- Peltonen, L.¹

32
- 0032514681
- Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
- (1998) Proc Natl Acad Sci USA , vol.95 , pp. 12416-12423
- de la Chapelle, A.¹ Wright, F.A.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.