Alternative name(s) : LIPC Deficiency, HL Deficiency, High density lipoprotein cholesterol level quantitative trait locus 12,HDLCQ12
Gene_locus : human-LIPC
Mutation : 12 mutations T405M_human-LIPC V95M_human-LIPC Prom-250A_human-LIPC A196T_human-LIPC insHYTVRV_human-LIPC L356F_human-LIPC R208H_human-LIPC G141S_human-LIPC V173M_human-LIPC G248V_human-LIPC N215S_human-LIPC S289F_human-LIPC
OMIM : 151670 , 246650 , 614025 , 612797 , 125853
Comment
LIPC, which is synthesized in liver, is secreted and bound to hepatocytes and hepatic endothelial surfaces via heparin sulfate proteoglycans (HSPGs). Active LIPC exists as a homodimer and has broad substrate specificity, catalyzing the hydrolysis of fatty acyl chains at the sn-1 position of phospholipids and of mono-, di-, and triacylglycerols associated with a variety of lipoproteins, including high density lipoprotein (HDL). LIPC may also facilitate binding and uptake of lipoproteins and selective uptake of cholesteryl esters from lipoproteins (summary by Brown et al., 2004). (from OMIM) A Deficiency of HL is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Familial human hepatic lipase deficiency is a rare recessive disorder that results from mutation in position 405 of the mature protein. The disease is characterised by premature atherosclerosis and abnormal circulating lipoproteins.| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : The Contribution of GWAS Loci in Familial Dyslipidemias - Ripatti_2016_PLoS.Genet_12_e1006078 |
| Author(s) : Ripatti P , Ramo JT , Soderlund S , Surakka I , Matikainen N , Pirinen M , Pajukanta P , Sarin AP , Service SK , Laurila PP , Ehnholm C , Salomaa V , Wilson RK , Palotie A , Freimer NB , Taskinen MR , Ripatti S |
| Ref : PLoS Genet , 12 :e1006078 , 2016 |
| Abstract : Ripatti_2016_PLoS.Genet_12_e1006078 |
| ESTHER : Ripatti_2016_PLoS.Genet_12_e1006078 |
| PubMedSearch : Ripatti_2016_PLoS.Genet_12_e1006078 |
| PubMedID: 27227539 |
| Gene_locus related to this paper: human-LIPC |
| Title : Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia - Plengpanich_2013_Clin.Chim.Acta_416_92 |
| Author(s) : Plengpanich W , Tongkobpetch S , Shotelersuk V , Le Goff W , Khovidhunkit W |
| Ref : Clinica Chimica Acta , 416 :92 , 2013 |
| Abstract : Plengpanich_2013_Clin.Chim.Acta_416_92 |
| ESTHER : Plengpanich_2013_Clin.Chim.Acta_416_92 |
| PubMedSearch : Plengpanich_2013_Clin.Chim.Acta_416_92 |
| PubMedID: 23219720 |
| Gene_locus related to this paper: human-LIPC |
| Title : Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia - Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| Author(s) : Khovidhunkit W , Chartyingcharoen P , Siriwong S , Limumpornpetch P , Plengpanich W |
| Ref : American Journal of Cardiology , 110 :62 , 2012 |
| Abstract : Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| ESTHER : Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| PubMedSearch : Khovidhunkit_2012_Am.J.Cardiol_110_62 |
| PubMedID: 22464213 |
| Gene_locus related to this paper: human-LIPC |
| Title : Hepatic lipase deficiency in a Middle-Eastern-Arabic male. - Al Riyami_2010_BMJ.Case.Rep__ |
| Author(s) : Al Riyami N , Al-Ali AM , Al-Sarraf AJ , Hill J , Sachs-Barrable K , Hegele R , Wasan KM , Frohlich J |
| Ref : BMJ Case Rep , : , 2010 |
| Abstract : Al Riyami_2010_BMJ.Case.Rep__ |
| ESTHER : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedSearch : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedID: 22798447 |
| Gene_locus related to this paper: human-LIPC |
| Title : Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia - Plengpanich_2009_Metabolism_58_1178 |
| Author(s) : Plengpanich W , Siriwong S , Khovidhunkit W |
| Ref : Metabolism , 58 :1178 , 2009 |
| Abstract : Plengpanich_2009_Metabolism_58_1178 |
| ESTHER : Plengpanich_2009_Metabolism_58_1178 |
| PubMedSearch : Plengpanich_2009_Metabolism_58_1178 |
| PubMedID: 19428034 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611 |
| Author(s) : Kokubo Y , Tomoike H , Tanaka C , Banno M , Okuda T , Inamoto N , Kamide K , Kawano Y , Miyata T |
| Ref : Hypertens Res , 29 :611 , 2006 |
| Abstract : Kokubo_2006_Hypertens.Res_29_611 |
| ESTHER : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedSearch : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedID: 17137217 |
| Gene_locus related to this paper: human-LIPC |
| Title : Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency - Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| Author(s) : Ruel IL , Lamarche B , Mauger JF , Badellino KO , Cohn JS , Marcil M , Couture P |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2600 , 2005 |
| Abstract : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| ESTHER : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| PubMedSearch : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| PubMedID: 16224048 |
| Gene_locus related to this paper: human-LIPC |
| Title : Lipoprotein metabolism in subjects with hepatic lipase deficiency - Tilly-Kiesi_2004_Metabolism_53_520 |
| Author(s) : Tilly-Kiesi M , Schaefer EJ , Knudsen P , Welty FK , Dolnikowski GG , Taskinen MR , Lichtenstein AH |
| Ref : Metabolism , 53 :520 , 2004 |
| Abstract : Tilly-Kiesi_2004_Metabolism_53_520 |
| ESTHER : Tilly-Kiesi_2004_Metabolism_53_520 |
| PubMedSearch : Tilly-Kiesi_2004_Metabolism_53_520 |
| PubMedID: 15045702 |
| Title : Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study - Xin_2003_Metabolism_52_1337 |
| Author(s) : Xin X , Srinivasan SR , Chen W , Boerwinkle E , Berenson GS |
| Ref : Metabolism , 52 :1337 , 2003 |
| Abstract : Xin_2003_Metabolism_52_1337 |
| ESTHER : Xin_2003_Metabolism_52_1337 |
| PubMedSearch : Xin_2003_Metabolism_52_1337 |
| PubMedID: 14564687 |
| Title : Influence of common variants in the CETP, LPL, HL and APO E genes on LDL heterogeneity in healthy, middle-aged men - Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| Author(s) : Skoglund-Andersson C , Ehrenborg E , Fisher RM , Olivecrona G , Hamsten A , Karpe F |
| Ref : Atherosclerosis , 167 :311 , 2003 |
| Abstract : Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| ESTHER : Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| PubMedSearch : Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| PubMedID: 12818414 |
| Title : Atorvastatin dose-dependently decreases hepatic lipase activity in type 2 diabetes: effect of sex and the LIPC promoter variant - Berk_2003_Diabetes.Care_26_427 |
| Author(s) : Berk P, II , Hoogerbrugge N , Stolk RP , Bootsma AH , Jansen H |
| Ref : Diabetes Care , 26 :427 , 2003 |
| Abstract : Berk_2003_Diabetes.Care_26_427 |
| ESTHER : Berk_2003_Diabetes.Care_26_427 |
| PubMedSearch : Berk_2003_Diabetes.Care_26_427 |
| PubMedID: 12547874 |
| Title : Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians - Ruel_2003_J.Lipid.Res_44_1508 |
| Author(s) : Ruel IL , Couture P , Gagne C , Deshaies Y , Simard J , Hegele RA , Lamarche B |
| Ref : J Lipid Res , 44 :1508 , 2003 |
| Abstract : Ruel_2003_J.Lipid.Res_44_1508 |
| ESTHER : Ruel_2003_J.Lipid.Res_44_1508 |
| PubMedSearch : Ruel_2003_J.Lipid.Res_44_1508 |
| PubMedID: 12777476 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors - Morabia_2003_Hum.Mol.Genet_12_2733 |
| Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Flaherty MS , Alvin GB , Das K , Gilliam TC |
| Ref : Hum Mol Genet , 12 :2733 , 2003 |
| Abstract : Morabia_2003_Hum.Mol.Genet_12_2733 |
| ESTHER : Morabia_2003_Hum.Mol.Genet_12_2733 |
| PubMedSearch : Morabia_2003_Hum.Mol.Genet_12_2733 |
| PubMedID: 12966036 |
| Gene_locus related to this paper: human-LIPC |
| Title : Hepatic lipase promoter C-514T polymorphism influences serial changes in HDL cholesterol levels since childhood: the Bogalusa Heart Study - Chen_2003_Atherosclerosis_169_175 |
| Author(s) : Chen W , Srinivasan SR , Boerwinkle E , Berenson GS |
| Ref : Atherosclerosis , 169 :175 , 2003 |
| Abstract : Chen_2003_Atherosclerosis_169_175 |
| ESTHER : Chen_2003_Atherosclerosis_169_175 |
| PubMedSearch : Chen_2003_Atherosclerosis_169_175 |
| PubMedID: 12860265 |
| Title : Contribution of hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein to LDL and HDL heterogeneity in healthy women - Carr_2002_Arterioscler.Thromb.Vasc.Biol_22_667 |
| Author(s) : Carr MC , Ayyobi AF , Murdoch SJ , Deeb SS , Brunzell JD |
| Ref : Arterioscler Thromb Vasc Biol , 22 :667 , 2002 |
| Abstract : Carr_2002_Arterioscler.Thromb.Vasc.Biol_22_667 |
| ESTHER : Carr_2002_Arterioscler.Thromb.Vasc.Biol_22_667 |
| PubMedSearch : Carr_2002_Arterioscler.Thromb.Vasc.Biol_22_667 |
| PubMedID: 11950708 |
| Title : Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men - Talmud_2002_Ann.Hum.Genet_66_111 |
| Author(s) : Talmud PJ , Hawe E , Robertson K , Miller GJ , Miller NE , Humphries SE |
| Ref : Ann Hum Genet , 66 :111 , 2002 |
| Abstract : Talmud_2002_Ann.Hum.Genet_66_111 |
| ESTHER : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedID: 12174215 |
| Title : Hepatic lipase gene -514 C\/T polymorphism and premature coronary heart disease - Ji_2002_J.Cardiovasc.Risk_9_105 |
| Author(s) : Ji J , Herbison CE , Mamotte CD , Burke V , Taylor RR , van Bockxmeer FM |
| Ref : J Cardiovasc Risk , 9 :105 , 2002 |
| Abstract : Ji_2002_J.Cardiovasc.Risk_9_105 |
| ESTHER : Ji_2002_J.Cardiovasc.Risk_9_105 |
| PubMedSearch : Ji_2002_J.Cardiovasc.Risk_9_105 |
| PubMedID: 12006918 |
| Title : Hepatic lipase gene variation is related to coronary reactivity in healthy young men - Fan_2001_Eur.J.Clin.Invest_31_574 |
| Author(s) : Fan Y , Laaksonen R , Janatuinen T , Vesalainen R , Nuutila P , Koivula T , Knuuti J , Lehtimaki T |
| Ref : European Journal of Clinical Investigation , 31 :574 , 2001 |
| Abstract : Fan_2001_Eur.J.Clin.Invest_31_574 |
| ESTHER : Fan_2001_Eur.J.Clin.Invest_31_574 |
| PubMedSearch : Fan_2001_Eur.J.Clin.Invest_31_574 |
| PubMedID: 11454011 |
| Title : Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor - Botma_2001_Atherosclerosis_154_625 |
| Author(s) : Botma GJ , Verhoeven AJ , Jansen H |
| Ref : Atherosclerosis , 154 :625 , 2001 |
| Abstract : Botma_2001_Atherosclerosis_154_625 |
| ESTHER : Botma_2001_Atherosclerosis_154_625 |
| PubMedSearch : Botma_2001_Atherosclerosis_154_625 |
| PubMedID: 11257263 |
| Title : Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population - Hubacek_2001_Physiol.Res_50_345 |
| Author(s) : Hubacek JA , Waterworth DM , Pitha J , Humphries SE , Talmud PJ , Poledne R |
| Ref : Physiol Res , 50 :345 , 2001 |
| Abstract : Hubacek_2001_Physiol.Res_50_345 |
| ESTHER : Hubacek_2001_Physiol.Res_50_345 |
| PubMedSearch : Hubacek_2001_Physiol.Res_50_345 |
| PubMedID: 11551139 |
| Title : Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population - Inazu_2001_J.Hum.Genet_46_172 |
| Author(s) : Inazu A , Nishimura Y , Terada Y , Mabuchi H |
| Ref : J Hum Genet , 46 :172 , 2001 |
| Abstract : Inazu_2001_J.Hum.Genet_46_172 |
| ESTHER : Inazu_2001_J.Hum.Genet_46_172 |
| PubMedSearch : Inazu_2001_J.Hum.Genet_46_172 |
| PubMedID: 11322655 |
| Title : The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia - Hoffer_2000_Atherosclerosis_151_443 |
| Author(s) : Hoffer MJ , Snieder H , Bredie SJ , Demacker PN , Kastelein JJ , Frants RR , Stalenhoef AF |
| Ref : Atherosclerosis , 151 :443 , 2000 |
| Abstract : Hoffer_2000_Atherosclerosis_151_443 |
| ESTHER : Hoffer_2000_Atherosclerosis_151_443 |
| PubMedSearch : Hoffer_2000_Atherosclerosis_151_443 |
| PubMedID: 10924721 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of the C-514T polymorphism in the hepatic lipase gene with variations in lipoprotein subclass profiles: The Framingham Offspring Study - Couture_2000_Arterioscler.Thromb.Vasc.Biol_20_815 |
| Author(s) : Couture P , Otvos JD , Cupples LA , Lahoz C , Wilson PW , Schaefer EJ , Ordovas JM |
| Ref : Arterioscler Thromb Vasc Biol , 20 :815 , 2000 |
| Abstract : Couture_2000_Arterioscler.Thromb.Vasc.Biol_20_815 |
| ESTHER : Couture_2000_Arterioscler.Thromb.Vasc.Biol_20_815 |
| PubMedSearch : Couture_2000_Arterioscler.Thromb.Vasc.Biol_20_815 |
| PubMedID: 10712408 |
| Title : The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity - Deeb_2000_J.Lipid.Res_41_155 |
| Author(s) : Deeb SS , Peng R |
| Ref : J Lipid Res , 41 :155 , 2000 |
| Abstract : Deeb_2000_J.Lipid.Res_41_155 |
| ESTHER : Deeb_2000_J.Lipid.Res_41_155 |
| PubMedSearch : Deeb_2000_J.Lipid.Res_41_155 |
| PubMedID: 10627514 |
| Title : Characterization of single-nucleotide polymorphisms in coding regions of human genes - Cargill_1999_Nat.Genet_22_231 |
| Author(s) : Cargill M , Altshuler D , Ireland J , Sklar P , Ardlie K , Patil N , Shaw N , Lane CR , Lim EP , Kalyanaraman N , Nemesh J , Ziaugra L , Friedland L , Rolfe A , Warrington J , Lipshutz R , Daley GQ , Lander ES |
| Ref : Nat Genet , 22 :231 , 1999 |
| Abstract : Cargill_1999_Nat.Genet_22_231 |
| ESTHER : Cargill_1999_Nat.Genet_22_231 |
| PubMedSearch : Cargill_1999_Nat.Genet_22_231 |
| PubMedID: 10391209 |
| Gene_locus related to this paper: human-LIPC |
| Title : The role of hepatic lipase in lipoprotein metabolism - Connelly_1999_Clin.Chim.Acta_286_243 |
| Author(s) : Connelly PW |
| Ref : Clinica Chimica Acta , 286 :243 , 1999 |
| Abstract : Connelly_1999_Clin.Chim.Acta_286_243 |
| ESTHER : Connelly_1999_Clin.Chim.Acta_286_243 |
| PubMedSearch : Connelly_1999_Clin.Chim.Acta_286_243 |
| PubMedID: 10511296 |
| Title : The T allele of the hepatic lipase promoter variant C-480T is associated with increased fasting lipids and HDL and increased preprandial and postprandial LpCIII:B : European Atherosclerosis Research Study (EARS) II - Jansen_1999_Arterioscler.Thromb.Vasc.Biol_19_303 |
| Author(s) : Jansen H , Chu G , Ehnholm C , Dallongeville J , Nicaud V , Talmud PJ |
| Ref : Arterioscler Thromb Vasc Biol , 19 :303 , 1999 |
| Abstract : Jansen_1999_Arterioscler.Thromb.Vasc.Biol_19_303 |
| ESTHER : Jansen_1999_Arterioscler.Thromb.Vasc.Biol_19_303 |
| PubMedSearch : Jansen_1999_Arterioscler.Thromb.Vasc.Biol_19_303 |
| PubMedID: 9974411 |
| Title : A hepatic lipase gene promoter polymorphism attenuates the increase in hepatic lipase activity with increasing intra-abdominal fat in women - Carr_1999_Arterioscler.Thromb.Vasc.Biol_19_2701 |
| Author(s) : Carr MC , Hokanson JE , Deeb SS , Purnell JQ , Mitchell ES , Brunzell JD |
| Ref : Arterioscler Thromb Vasc Biol , 19 :2701 , 1999 |
| Abstract : Carr_1999_Arterioscler.Thromb.Vasc.Biol_19_2701 |
| ESTHER : Carr_1999_Arterioscler.Thromb.Vasc.Biol_19_2701 |
| PubMedSearch : Carr_1999_Arterioscler.Thromb.Vasc.Biol_19_2701 |
| PubMedID: 10559014 |
| Title : Absence of association between genetic variation in the LIPC gene promoter and plasma lipoproteins in three Canadian populations - Hegele_1999_Atherosclerosis_146_153 |
| Author(s) : Hegele RA , Harris SB , Brunt JH , Young TK , Hanley AJ , Zinman B , Connelly PW |
| Ref : Atherosclerosis , 146 :153 , 1999 |
| Abstract : Hegele_1999_Atherosclerosis_146_153 |
| ESTHER : Hegele_1999_Atherosclerosis_146_153 |
| PubMedSearch : Hegele_1999_Atherosclerosis_146_153 |
| PubMedID: 10487498 |
| Title : Common variants in the promoter of the hepatic lipase gene are associated with lower levels of hepatic lipase activity, buoyant LDL, and higher HDL2 cholesterol - Zambon_1998_Arterioscler.Thromb.Vasc.Biol_18_1723 |
| Author(s) : Zambon A , Deeb SS , Hokanson JE , Brown BG , Brunzell JD |
| Ref : Arterioscler Thromb Vasc Biol , 18 :1723 , 1998 |
| Abstract : Zambon_1998_Arterioscler.Thromb.Vasc.Biol_18_1723 |
| ESTHER : Zambon_1998_Arterioscler.Thromb.Vasc.Biol_18_1723 |
| PubMedSearch : Zambon_1998_Arterioscler.Thromb.Vasc.Biol_18_1723 |
| PubMedID: 9812910 |
| Title : Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients - Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| Author(s) : Jansen H , Verhoeven AJ , Weeks L , Kastelein JJ , Halley DJ , van den Ouweland A , Jukema JW , Seidell JC , Birkenhager JC |
| Ref : Arterioscler Thromb Vasc Biol , 17 :2837 , 1997 |
| Abstract : Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| ESTHER : Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| PubMedSearch : Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| PubMedID: 9409263 |
| Title : Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene - Knudsen_1997_Atherosclerosis_128_165 |
| Author(s) : Knudsen P , Antikainen M , Uusi-Oukari M , Ehnholm S , Lahdenpera S , Bensadoun A , Funke H , Wiebusch H , Assmann G , Taskinen MR , Ehnholm C |
| Ref : Atherosclerosis , 128 :165 , 1997 |
| Abstract : Knudsen_1997_Atherosclerosis_128_165 |
| ESTHER : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedSearch : Knudsen_1997_Atherosclerosis_128_165 |
| PubMedID: 9050773 |
| Gene_locus related to this paper: human-LIPC |
| Title : Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency - Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| Author(s) : Hegele RA , Little JA , Connelly PW |
| Ref : Biochemical & Biophysical Research Communications , 179 :78 , 1991 |
| Abstract : Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| ESTHER : Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| PubMedSearch : Hegele_1991_Biochem.Biophys.Res.Commun_179_78 |
| PubMedID: 1883393 |
| Title : A hepatic lipase gene mutation associated with heritable lipolytic deficiency - Hegele_1991_J.Clin.Endocrinol.Metab_72_730 |
| Author(s) : Hegele RA , Vezina C , Moorjani S , Lupien PJ , Gagne C , Brun LD , Little JA , Connelly PW |
| Ref : J Clinical Endocrinology Metab , 72 :730 , 1991 |
| Abstract : Hegele_1991_J.Clin.Endocrinol.Metab_72_730 |
| ESTHER : Hegele_1991_J.Clin.Endocrinol.Metab_72_730 |
| PubMedSearch : Hegele_1991_J.Clin.Endocrinol.Metab_72_730 |
| PubMedID: 1671786 |
| Title : Isolation and characterization of the human hepatic lipase gene - Ameis_1990_J.Biol.Chem_265_6552 |
| Author(s) : Ameis D , Stahnke G , Kobayashi J , McLean J , Lee G , Buscher M , Schotz MC , Will H |
| Ref : Journal of Biological Chemistry , 265 :6552 , 1990 |
| Abstract : Ameis_1990_J.Biol.Chem_265_6552 |
| ESTHER : Ameis_1990_J.Biol.Chem_265_6552 |
| PubMedSearch : Ameis_1990_J.Biol.Chem_265_6552 |
| PubMedID: 2324091 |
| Gene_locus related to this paper: human-LIPC |
| Title : Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion - Davis_1990_J.Biol.Chem_265_17960 |
| Author(s) : Davis RC , Ben-Zeev O , Martin D , Doolittle MH |
| Ref : Journal of Biological Chemistry , 265 :17960 , 1990 |
| Abstract : Davis_1990_J.Biol.Chem_265_17960 |
| ESTHER : Davis_1990_J.Biol.Chem_265_17960 |
| PubMedSearch : Davis_1990_J.Biol.Chem_265_17960 |
| PubMedID: 2211673 |
| Title : Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family - Auwerx_1990_Am.J.Hum.Genet_46_470 |
| Author(s) : Auwerx JH , Babirak SP , Hokanson JE , Stahnke G , Will H , Deeb SS , Brunzell JD |
| Ref : American Journal of Human Genetics , 46 :470 , 1990 |
| Abstract : Auwerx_1990_Am.J.Hum.Genet_46_470 |
| ESTHER : Auwerx_1990_Am.J.Hum.Genet_46_470 |
| PubMedSearch : Auwerx_1990_Am.J.Hum.Genet_46_470 |
| PubMedID: 1968704 |
| Title : Structure of the human hepatic triglyceride lipase gene - Cai_1989_Biochemistry_28_8966 |
| Author(s) : Cai SJ , Wong DM , Chen SH , Chan L |
| Ref : Biochemistry , 28 :8966 , 1989 |
| Abstract : Cai_1989_Biochemistry_28_8966 |
| ESTHER : Cai_1989_Biochemistry_28_8966 |
| PubMedSearch : Cai_1989_Biochemistry_28_8966 |
| PubMedID: 2605236 |
| Gene_locus related to this paper: human-LIPC |
| Title : Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase - Martin_1988_J.Biol.Chem_263_10907 |
| Author(s) : Martin GA , Busch SJ , Meredith GD , Cardin AD , Blankenship DT , Mao SJ , Rechtin AE , Woods CW , Racke MM , Schafer MP , Fitzgerald MC , Burke DM , Flanagan MA , Jackson RL |
| Ref : Journal of Biological Chemistry , 263 :10907 , 1988 |
| Abstract : Martin_1988_J.Biol.Chem_263_10907 |
| ESTHER : Martin_1988_J.Biol.Chem_263_10907 |
| PubMedSearch : Martin_1988_J.Biol.Chem_263_10907 |
| PubMedID: 2839510 |
| Gene_locus related to this paper: human-LIPC |
| Title : Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase - Datta_1988_J.Biol.Chem_263_1107 |
| Author(s) : Datta S , Luo CC , Li WH , VanTuinen P , Ledbetter DH , Brown MA , Chen SH , Liu SW , Chan L |
| Ref : Journal of Biological Chemistry , 263 :1107 , 1988 |
| Abstract : Datta_1988_J.Biol.Chem_263_1107 |
| ESTHER : Datta_1988_J.Biol.Chem_263_1107 |
| PubMedSearch : Datta_1988_J.Biol.Chem_263_1107 |
| PubMedID: 2447084 |
| Gene_locus related to this paper: human-LIPC |
| Title : Two polymorphisms for the human hepatic lipase (HL) gene - |
| Author(s) : Heinzmann C , Ladias J , Antonarakis S , Diep A , Schotz M , Lusis AJ |
| Ref : Nucleic Acids Research , 16 :4739 , 1988 |
| PubMedID: 2454457 |
| Title : Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21 - Sparkes_1987_Genomics_1_138 |
| Author(s) : Sparkes RS , Zollman S , Klisak I , Kirchgessner TG , Komaromy MC , Mohandas T , Schotz MC , Lusis AJ |
| Ref : Genomics , 1 :138 , 1987 |
| Abstract : Sparkes_1987_Genomics_1_138 |
| ESTHER : Sparkes_1987_Genomics_1_138 |
| PubMedSearch : Sparkes_1987_Genomics_1_138 |
| PubMedID: 3692485 |
| Title : Familial hepatic lipase deficiency - |
| Author(s) : Little JA , Connelly PW |
| Ref : Advances in Experimental Medicine & Biology , 201 :253 , 1986 |
| PubMedID: 3799360 |
| Title : Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia - Carlson_1986_Acta.Med.Scand_219_435 |
| Author(s) : Carlson LA , Holmquist L , Nilsson-Ehle P |
| Ref : Acta Med Scand , 219 :435 , 1986 |
| Abstract : Carlson_1986_Acta.Med.Scand_219_435 |
| ESTHER : Carlson_1986_Acta.Med.Scand_219_435 |
| PubMedSearch : Carlson_1986_Acta.Med.Scand_219_435 |
| PubMedID: 3739751 |
| Title : Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase - |
| Author(s) : Breckenridge WC , Little JA , Alaupovic P , Wang CS , Kuksis A , Kakis G , Lindgren F , Gardiner G |
| Ref : Atherosclerosis , 45 :161 , 1982 |
| PubMedID: 6961921 |