| 1 | SBPQ
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| Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women.
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| Nicklas BJ, Ferrell RE, Rogus EM, Berman DM, Ryan AS, Dennis KE, Goldberg AP.
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| Hum Genet 106(4):420-4. 2000
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| 2 | SBPQ
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| Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
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| Henderson HE, et al.
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| Am J Med Genet 78 : 313-316. 1998
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| 3 | SBPQ
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| A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
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| Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.
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| Hum Mutat 10(3):179-85. 1997
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| 4 | SBPQ
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| Familial lipoprotein lipase (LPL) deficiency : a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.
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| Mailly F, Palmen J, Muller DP, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watts G, Lithell H, Angelico F, Humphries SE, Talmud PJ.
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| Hum Mutat 10(6):465-73. 1997
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| 5 | SBPQ
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| Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22.
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| Wu DA, et al.
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| J Clin Invest 97 : 2111-2118. 1996
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| 6 | SBPQ
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| Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.
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| Benlian P, et al.
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| Am J Hum Genet 59 : 431-436. 1996
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| 7 | SBPQ
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| Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.
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| De Bruin TWA, et al.
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| Eur J Clin Invest 26 : 631-639. 1996
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| 8 | SBPQ
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| Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
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| Wiebusch H, et al.
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| Hum Mutat 8 : 381-383. 1996
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| 9 | SBPQ, CFTR
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| A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
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| Wiebusch H, et al.
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| Hum Mutat 8 : 392-396. 1996
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| 10 | SBPQ
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| A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.
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| Henderson HE, et al.
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| Biochem Biophys Res Commun 227 : 189-194. 1996
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| 11 | SBPQ
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| The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis.
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| Jukema JW, et al.
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| Circulation 94 : 1913-1918. 1996
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| 12 | SBPQ
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| Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease.
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| Yang WS, et al.
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| J Lipid Res 37 : 2627-2637. 1996
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| 13 | SBPQ
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| A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.
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| Reymer PWA, et al.
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| Nat Genet 10 : 28-34. 1995
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| 14 | SBPQ
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| A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
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| Yang WS, et al.
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| Proc Natl Acad Sci U S A 92 : 4462-4466. Corrected in 93 : 524.(1996) 1995
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| 15 | SBPQ
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| Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-Ser) causes chylomicronaemia in a boy of Spanish descent.
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| Bijvoet SM, et al.
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| Hum Genet 93 : 339-343. 1994
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| 16 | SBPQ, MSR1, TSG8A
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| Yeast artificial chromosome and radiation hybrid map of loci in chromosome band 8p22, a common region of allelic loss in multiple human cancers.
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| Bookstein R, et al.
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| Genomics 24 : 317-323. 1994
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| 17 | SBPQ
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| A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-Val) leads to enzyme inactivation and familial chylomicronemia.
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| Previato L, et al.
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| J Lipid Res 35 : 1552-1560. 1994
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| 18 | SBPQ
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| A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-stop/TGC972-TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.
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| Takagi A, et al.
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| J Lipid Res 35 : 2008-2018. 1994
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| 19 | SBPQ
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| A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase : in vivo evidence that asparagine 43 is essential for catalysis and secretion.
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| Kobayashi J, et al.
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| Biochem Biophys Res Commun 205 : 506-515. 1994
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| 20 | SBPQ
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| Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.
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| Mattei MG, et al.
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| Cytogenet Cell Genet 63 : 45-46. 1993
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| 21 | SBPQ
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| A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia.
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| Ma Y, et al.
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| Hum Mol Genet 2 : 1049-1050. 1993
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| 22 | SBPQ
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| Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
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| Wilson DE, et al.
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| J Clin Invest 92 : 203-211. 1993
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| 23 | SBPQ
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| A missense mutation (Ala334-Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
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| Kobayashi J, et al.
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| Biochem Biophys Res Commun 191 : 1046-1054. 1993
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| 24 | SBPQ
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| Dinucleotide repeat polymorphisms at the lipoprotein lipase (LPL) locus.
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| Narcisi TM, et al.
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| Hum Genet 92 : 312-313. 1993
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| 25 | SBPQ
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| A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
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| Haubenwallner S, et al.
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| Genomics 18 : 392-396. 1993
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| 26 | SBPQ
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| A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
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| Gotoda T, et al.
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| Biochim Biophys Acta 1138 : 353-356. 1992
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| 27 | SBPQ
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| A missense mutation (Trp86-Arg) in exon 3 of the lipoprotein lipase gene : a cause of familial chylomicronemia.
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| Ishimura-Oka K, et al.
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| Am J Hum Genet 50 : 1275-1280. 1992
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| 28 | SBPQ
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| A missense mutation (Asp250-Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
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| Ma Y, et al.
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| Genomics 13 : 649-653. 1992
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| 29 | SBPQ
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| A missense mutation Pro157Arg in lipoprotein lipase (LPL-Nijmegen) resulting in loss of catalytic activity.
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| Bruin T, et al.
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| Eur J Biochem 208 : 267-272. 1992
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| 30 | SBPQ
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| A G-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family.
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| Chimienti G, et al.
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| Biochem Biophys Res Commun 187 : 620-627. 1992
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| 31 | SBPQ
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| Two new alleles in the tetranucleotide repeat polymorphism at the lipoprotein lipase (LPL) locus.
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| Ahn YI, et al.
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| Hum Genet 90 : 184. 1992
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| 32 | SBPQ
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| Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.
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| Ma Y, et al.
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| J Biol Chem 267 : 1918-1923. 1992
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| 33 | SBPQ
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| Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion.
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| Gotoda T, et al.
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| J Lipid Res 33 : 1067-1072. 1992
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| 34 | SBPQ
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| A heterozygous mutation (the codon for Ser 447-a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with I hyperlipidemia.
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| Kobayashi J, et al.
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| Biochem Biophys Res Commun 182 : 70-77. 1992
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| 35 | SBPQ
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| A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
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| Miyake Y, et al.
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| Eur J Biochem 210 : 1-7. 1992
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| 36 | SBPQ
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| Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
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| Takagi A, et al.
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| J Clin Invest 89 : 581-591. 1992
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| 37 | SBPQ
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| A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
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| Ma Y, et al.
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| N Engl J Med 324 : 1761-1766. 1991
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| 38 | SBPQ
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| Amino acid substitution (Ile194-Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands.
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| Henderson HE, et al.
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| J Clin Invest 87 : 2005-2011. 1991
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| 39 | SBPQ
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| HindIII-polymorphism in the LPL-gene detected by PCR.
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| Bruin T, et al.
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| Nucleic Acids Res 19 : 6346. 1991
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| 40 | SBPQ
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| Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
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| Gotoda T, et al.
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| J Clin Invest 88 : 1856-1864. 1991
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| 41 | SBPQ
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| Catalytic triad residue mutation (ASP156-GLY) causing familial lipoprotein lipase deficiency.
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| Faustinella F, et al.
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| J Biol Chem 266 : 14418-14424. 1991
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| 42 | SBPQ
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| Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
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| Dichek HL, et al.
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| J Biol Chem 266 : 473-477. 1991
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| 43 | SBPQ
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| Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
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| Ameis D, et al.
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| J Clin Invest 87 : 1165-1170. 1991
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| 44 | SBPQ
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| Lipoprotein lipase-Bethesda: a single amino acid substitution (Ala-176-Thr) leads to abnormal heparin binding and loss of enzymic activity.
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| Beg OU, et al.
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| Proc Natl Acad Sci U S A 87 : 3474-3478. 1990
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| 45 | SBPQ
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| Missense mutation (GLY-GLU-188) of human lipoprotein lipase imparting functional deficiency.
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| Emi M, et al.
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| J Biol Chem 265 : 5910-5916. 1990
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| 46 | SBPQ
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| Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
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| Emi M, et al.
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| Am J Hum Genet 47 : 107-111. 1990
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| 47 | SBPQ
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| Tetranucleotide repeat polymorphism in the LPL gene.
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| Zuliani G, et al.
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| Nucleic Acids Res 18 : 4958. 1990
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| 48 | SBPQ
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| Compound heterozygote for lipoprotein lipase deficiency: Ser-Thr244 and transition in 3' splice site of intron 2 (AG-AA) in the lipoprotein lipase gene.
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| Hata A, et al.
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| Am J Hum Genet 47 : 721-726. 1990
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| 49 | SBPQ
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| A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
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| Monsalve MV, et al.
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| J Clin Invest 86 : 728-734. 1990
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| 50 | SBPQ
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| PCR assay for a polymorphic PvuII site in the LPL gene.
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| Johnson JP, et al.
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| Nucleic Acids Res 18 : 7469. 1990
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| 51 | SBPQ
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| Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.
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| Henderson HE, et al.
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| Mol Biol Med 7 : 511-517. 1990
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| 52 | SBPQ
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| Nucleotide sequence of PvuII polymorphic site at the human lipoprotein lipase gene locus.
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| Oka K, et al.
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| Nucleic Acids Res 17 : 6752. 1989
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| 53 | SBPQ
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| A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
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| Langlois S, et al.
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| Proc Natl Acad Sci U S A 86 : 948-952. 1989
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| 54 | SBPQ
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| A BglII RFLP at the lipoprotein lipase gene.
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| Hegele RA, et al.
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| Nucleic Acids Res 17 : 8899. 1989
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| 55 | SBPQ
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| Two RFLPs at the lipoprotein lipase (LPL) gene.
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| Hegele RA, et al.
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| Nucleic Acids Res 17 : 10146. 1989
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| 56 | SBPQ
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| Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.
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| Kirchgessner TG, et al.
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| Proc Natl Acad Sci U S A 86 : 9647-9651. 1989
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| 57 | SBPQ
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| Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency.
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| Gotoda T, Senda M, Murase T, Yamada N, Takaku F, Furuichi Y.
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| Biochem Biophys Res Commun 164 : 1391-1396. 1989
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| 58 | SBPQ
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| Bst1 RFLP at the human lipoprotein lipase (LPL) gene locus.
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| Li S, Oka K, Galton D, Stocks J.
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| Nucleic Acids Res 16 : 11856. 1988
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| 59 | SBPQ
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| PvuII RFLP at the human lipoprotein lipase (LPL) gene locus.
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| Li S, et al.
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| Nucleic Acids Res 16 : 2358. 1988
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| 60 | SBPQ
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| BstNI (EcoRII) RFLP in the lipoprotein lipase gene (LPL).
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| Funke H, et al.
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| Nucleic Acids Res 16 : 2741. 1988
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| 61 | LIPC, SBPQ
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| Human lipase assignments : hepatic lipase to 15q21-q23 and lipoprotein lipase to 8p22.
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| Sparkes RS, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 697. 1987
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| 62 | SBPQ
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| A probe for lipoprotein lipase detects a polymorphism with StuI.
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| Bell PJ, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 579. 1987
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| 63 | SBPQ
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| Two polymorphisms in the human lipoprotein lipase (LPL) gene.
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| Fisher KL, et al.
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| Nucleic Acids Res 15 : 7657. 1987
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| 64 | SBPQ
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| RFLP for the human lipoprotein lipase (LPL) gene : HindIII.
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| Heinzmann C, et al.
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| Nucleic Acids Res 15 : 6763. 1987
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| 65 | SBPQ
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| HindIII RFLP in the lipoprotein lipase gene (LPL).
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| Funke H, et al.
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| Nucleic Acids Res 15 : 9102. 1987
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| 66 | LIPC, SBPQ
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| Human genes involved in lipolysis of plasma lipoproteins : mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.
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| Sparkes RS, et al.
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| Genomics 1 : 138-144. 1987
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| 67 | SBPQ
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| The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family.
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| Kirchgessner TG, et al.
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| J Biol Chem 262 : 8463-8466. 1987
|