User contributions for Editor

27 January 2012

• 13:0913:09, 27 January 2012 diff hist +252 N JASReference:Yamakawa K:Takada K:Yanagi H:Tsuchiya S:Kawai K:Nakagawa S:Kajiyama G:Hamaguchi H:,Hum Genet,1989,82,317 Created page with {{JASReference|mutation= LDLR/Del/Ex15-Ex16/5.5k LDLR/Del/Ex16-Ex17/4k LDLR/Del/Ex2-Ex3/4k |title=Three novel partial deletions of the low-density lipoprotein (LDL) recepto...
• 13:0813:08, 27 January 2012 diff hist +293 N JASReference:Tashiro J:Endo M:Bujo H:Shinomiya M:Morisaki N:Saito Y:,Eur J Clin Invest,1988,28,712 Created page with {{JASReference|mutation= LDLR/Del/2201/CA |title=New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201d...
• 12:0412:04, 27 January 2012 diff hist +226 N JASReference:Saika Y:Sakai N:Takahashi M:Maruyama T:Kihara S:Ouchi N:Ishigami M:Hiraoka H:Nakamura T:Yamashita S:Matsuzawa Y:,Eur J Clin Invest,2003,33,216 Created page with {{JASReference|mutation= LPL/Mut/1069/G-C |title=Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis |doi=...
• 12:0312:03, 27 January 2012 diff hist +281 N JASReference:Maruyama T:Miyake Y:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Eur J Biochem,1995,232,700 Created page with {{JASReference|mutation= LDLR/Mut/1845+2/T-C |title=A single point mutation in the splice donor site of the low-density-lipoprotein-receptor gene produces intron read-through, ...
• 12:0212:02, 27 January 2012 diff hist +201 N JASReference:Miyake Y:Tajima S:Funahashi T:Yamamura T:Yamamoto A:,Eur J Biochem,1992,210,1 Created page with {{JASReference|mutation= LDLR/Mut/1297/G-C |title=A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor |doi=10.1111/j.1432-1033.1992.t...
• 11:5811:58, 27 January 2012 diff hist +264 N JASReference:Ikeda Y:Goji K:Takagi A:,Clin Sci,2000,99,569 Created page with {{JASReference|mutation= LPL/Mut/568/G-A |title=A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipopro...
• 11:5811:58, 27 January 2012 diff hist +236 N JASReference:Takahashi M:Ikeda U:Takahashi S:Hattori H:Iwasaki T:Ishihara M:Egashira T:Honma S:Asano Y:Shimada K:,Clin Genet,2001,59,290 Created page with {{JASReference|mutation= LDLR/Mut/137/G-C |title=A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterole...
• 11:5711:57, 27 January 2012 diff hist +228 N JASReference:Moriyama K:Sasaki J:Matsunaga A:Takada Y:Kagimoto M:Arakawa K:,Clin Genet,1996,49,79 Created page with {{JASReference|mutation= APOA1/Mut/370/T-C APOA1/Mut/558/T-G |title=Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100--His) and A-I Kurume (His 162--Gln) ...
• 11:5611:56, 27 January 2012 diff hist +200 N JASReference:Togo M:Hashimoto Y:Iso-O N:Kurano M:Hara M:Kadowaki T:Koike K:Tsukamoto K:,Clin Chim Acta,2008,401,165 Created page with {{JASReference|mutation= ABCG5/Dup/831/19 ABCG5/Mut/1336/C-T |title=Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases |doi=10.1016/j.cca.200...

26 January 2012

• 16:3616:36, 26 January 2012 diff hist +287 Nm JASReference:Nishida Y:Hirano K:Tsukamoto K:Nagano M:Ikegami C:Roomp K:Ishihara M:Sakane N:Zhang Z:Tsujii Ki K:Matsuyama A:Ohama T:Matsuura F:Ishigami M:Sakai N:Hiraoka H:Hattori H:Wellington C:Yoshida Y:Misugi S:et al:,Biochem Biophys Res Commun,2002,290,713 moved [[JASReference:Nishida Y:Hirano K:Tsukamoto K:Nagano M:Ikegami C:Roomp K:Ishihara M:Sakane N:Zhang Z:Tsujii Ki K:Matsuyama A:Ohama T:Matsuura F:Ishigami M:Sakai N:Hiraoka H:Hattori H:Wellington C:Yoshida Y:Misugi S:et.al.:,Biochem Biophys Res C...
• 14:4914:49, 26 January 2012 diff hist +200 N JASReference:Katsuda S:Kawashiri MA:Inazu A:Tada H:Tsuchida M:Kaneko Y:Nozue T:Nohara A:Okada T:Kobayashi J:Michishita I:Mabuchi H:Yamagishi M:,Clin Chim Acta,2009,399,64 Created page with {{JASReference|mutation= APOB/Del/1902/TC APOB/Mut/11283/C-A |title=Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia |doi=10.1016/j.cca.200...
• 14:4714:47, 26 January 2012 diff hist +187 N JASReference:Kajinami K:Fujiota HJ:Koizumi J:Mabuchi H:Takeda R:Ohta M:,Circulation,1989,80,278 Created page with {{JASReference|mutation= LDLR/Del/Ex2-Ex3/10k |title=Genetically-determined mild type of familial hypercholesterolemia including normocholesterolemic patients: FH-Tonami-2 |doi...
• 14:4614:46, 26 January 2012 diff hist +218 N JASReference:Takagi A:Ikeda Y:Takeda E:Yamamoto A:,Biochim Biophys Acta,2000,1502,433 No edit summary
• 14:4514:45, 26 January 2012 diff hist +223 N JASReference:Gotoda T:Yamada N:Murase T:Miyake S:Murakami R:Kawamura M:Kozaki K:Mori N:Shimano H:Shimada M:Yazaki Y:,Biochim Biophys Acta,1992,1138,353 Created page with {{JASReference|mutation= |title=A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency |do...
• 14:4514:45, 26 January 2012 diff hist +269 N JASReference:Araki K:Sasaki J:Matsunaga A:Takada Y:Moriyama K:Hidaka K:Arakawa K:,Biochim Biophys Acta,1994,1214,272 Created page with {{JASReference|mutation= APOA1/Mut/181/G-A APOA1/Mut/366/C-A APOA1/Mut/394/T-C |title=Characterization of two new human apolipoprotein A-I variants: apolipoprotein A-I Tsus...
• 14:4414:44, 26 January 2012 diff hist +231 N JASReference:Moriyama K:Sasaki J:Takada Y:Arakawa F:Matsunaga A:Ito Y:Arakawa K:,Biochim Biophys Acta,1996,1301,185 Created page with {{JASReference|mutation= APOE/Mut/725/C-A |title=Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 -- Gln) in a hyperlipidemic patient with xanthoma...
• 14:4314:43, 26 January 2012 diff hist +216 N JASReference:Takada Y:Sasaki J:Ogata S:Nakanishi T:Ikehara Y:Arakawa K:,Biochim Biophys Acta,1990,1043,169 Created page with {{JASReference|mutation= APOA1/Mut/400/G-A |title=Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu----Lys). A novel apolipoprotein variant |doi=10.10...
• 14:3314:33, 26 January 2012 diff hist +291 N JASReference:Huang W:Moriyama K:Koga T:Hua H:Ageta M:Kawabata S:Mawatari K:Imamura T:Eto T:Kawamura M:Teramoto T:Sasaki J:,Biochim Biophys Acta,2001,1537,71 Created page with {{JASReference|mutation= ABCA1/Del/3847/CGCC ABCA1/Mut/3865/G-A ABCA1/Mut/6241/C-T |title=Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and famili...
• 14:3214:32, 26 January 2012 diff hist +167 N JASReference:Moriyama K:Sasaki J:Matsunaga A:Arakawa F:Takada Y:Araki K:Kaneko S:Arakawa K:,Biochim Biophys Acta,1992,1128,58 Created page with {{JASReference|mutation= APOE/Mut/490/A-G |title=Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia |doi=10.1016/0005-2760(92)90257-V |pmid=1356443 }}
• 14:3114:31, 26 January 2012 diff hist +236 N JASReference:Inadera H:Hibino A:Kobayashi J:Kanzaki T:Shirai K:Yukawa S:Saito Y:Yoshida S:,Biochem Biophys Res Commun,1993,193,1174 Created page with {{JASReference|mutation= APOC2/Mut/142/T-C |title=A missense mutation (Trp 26--Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (a...
• 14:3114:31, 26 January 2012 diff hist +205 N JASReference:Kobayashi J:Sasaki N:Tashiro J:Inadera H:Saito Y:Yoshida S:,Biochem Biophys Res Commun,1993,191,1046 Created page with {{JASReference|mutation= LPL/Mut/1255/G-A |title=A missense mutation (Ala334--Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia |doi=10.1006/b...
• 14:2714:27, 26 January 2012 diff hist +189 N JASReference:Nakata K:Kobayashi K:Yanagi H:Shimakura Y:Tsuchiya S:Arinami T:Hamaguchi H:,Biochem Biophys Res Commun,1991,196,950 Created page with {{JASReference|mutation= APOA1/Ins/86/C |title=Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene |doi=10.1006/bbrc.1993.2341 |pm...
• 14:2614:26, 26 January 2012 diff hist +273 N JASReference:Bujo H:Kusunoki J:Ogasawara M:Yamamoto T:Ohta Y:Shimada T:Saito Y:Yoshida S:,Biochem Biophys Res Commun,1991,181,933 Created page with {{JASReference|mutation= LCAT/Ins/102/C |title=Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene c...
• 14:1114:11, 26 January 2012 diff hist +212 N JASReference:Gotoda T:Kinoshita M:Shimano H:Harada K:Shimada M:Ohsuga J:Teramoto T:Yazaki Y:Yamada N:,Biochem Biophys Res Commun,1993,194,519 Created page with {{JASReference|mutation= CETP/Mut/.976/C-T |title=Cholesteryl ester transfer protein deficiency caused by a nonsense mutation detected in the patient's macrophage mRNA |doi=10....
• 14:1014:10, 26 January 2012 diff hist +315 N JASReference:Kobayashi J:Inadera H:Fujita Y:Talley G:Morisaki N:Yoshida S:Saito Y:Fojo SS:Brewer HB Jr:,Biochem Biophys Res Commun,1994,205,506 Created page with {{JASReference|mutation= LPL/Mut/383/A-G |title=A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human li...
• 14:0914:09, 26 January 2012 diff hist +206 N JASReference:Maeda E:Naka Y:Matozaki T:Sakuma M:Akanuma Y:Yoshino G:Kasuga M:,Biochem Biophys Res Commun,1991,178,460 Created page with {{JASReference|mutation= LCAT/Mut/951/G-A |title=Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene |doi=10.1016/0006-29...
• 14:0514:05, 26 January 2012 diff hist +277 N JASReference:Kobayashi J:Nishida T:Ameis D:Stahnke G:Schotz MC:Hashimoto H:Fukamachi I:Shirai K:Saito Y:Yoshida S:,Biochem Biophys Res Commun,1992,182,70 Created page with {{JASReference|mutation= LPL/Mut/1595/C-G |title=A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface...
• 11:3111:31, 26 January 2012 diff hist +860 N JASReference:Miyake Y:Yamamura T:Sakai N:Miyata T:Kokubo Y:Yamamoto A:,Atherosclerosis,2009,203,153 No edit summary

25 January 2012

• 17:4117:41, 25 January 2012 diff hist +241 N JASReference:Okubo M:Aoyama Y:Harada K:Fukawa M:Tsukada T:Mokuno H:Yamada N:Murase T:,Atherosclerosis,1998,140,187 Created page with {{JASReference|mutation= APOE/Mut/.543/C-G |title=A novel apolipoprotein E2 variant, E2Toranomon (Q187E), identified in a type III hyperlipoproteinemia patient with coronary at...
• 17:4017:40, 25 January 2012 diff hist +339 N JASReference:Okubo M:Hasegawa Y:Aoyama Y:Murase T:,Atherosclerosis,1997,130,153 Created page with {{JASReference|mutation= APOC2/Mut/55+1/G-C |title=A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II defic...
• 17:3817:38, 25 January 2012 diff hist +271 N JASReference:Takagi A:Ikeda Y:Tsushima M:Yamamoto A:,Atherosclerosis,1997,134,27 No edit summary
• 17:3517:35, 25 January 2012 diff hist +183 N JASReference:Yokota H:Hashimoto Y:Okubo S:Yumoto M:Mashige F:Kawamura M:Kotani K:Usuki Y:Shimada S:Kitamura K:Nakahara K:,Atherosclerosis,2002,162,399 Created page with {{JASReference|mutation= APOA1/Del/624/C |title=Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD |doi=10.1016/S0021-9150(01)00724-9 |pmid=1199...
• 17:2917:29, 25 January 2012 diff hist +697 N JASReference:Yu W:Nohara A:Higashikata T:Lu H:Inazu A:Mabuchi H:,Atherosclerosis,2002,165,335 No edit summary
• 16:2716:27, 25 January 2012 diff hist +267 N JASReference:Yang XP:Inazu A:Yagi K:Kajinami K:Koizumi J:Mabuchi H:,Arterioscler Thromb Vasc Biol,1999,19,1950 Created page with {{JASReference|mutation= MTTP/Mut/1236-1/G-A |title=Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the mi...
• 16:2616:26, 25 January 2012 diff hist +227 N JASReference:Takata K:Saku K:Ohta T:Takata M:Bai H:Jimi S:Liu R:Sato H:Kajiyama G:Arakawa K:,Arterioscler Thromb Vasc Biol,1995,15,1866 Created page with {{JASReference|mutation= APOA1/Mut/95/G-A |title=A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease...
• 16:2516:25, 25 January 2012 diff hist +227 N JASReference:Maruyama T:Miyake Y:Tajima S:Harada-Shiba M:Yamamura T:Tsushima M:Kishino B:Horiguchi Y:Funahashi T:Matsuzawa Y:Yamamoto A:,Arterioscler Thromb Vasc Biol,1995,15,1713 Created page with {{JASReference|mutation= LDLR/Mut/2431/A-T |title=Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population...
• 16:2416:24, 25 January 2012 diff hist +232 N JASReference:Han H:Sasaki J:Matsunaga A:Hakamata H:Huang W:Ageta M:Taguchi T:Koga T:Kugi M:Horiuchi S:Arakawa K:,Arterioscler Thromb Vasc Biol,1999,19,1447 Created page with {{JASReference|mutation= APOA1/Del/775/GAG |title=A novel mutant, ApoA-I nichinan (Glu235--0), is associated with low HDL cholesterol levels and decreased cholesterol efflux f...
• 16:2416:24, 25 January 2012 diff hist +178 N JASReference:Moriyama K:Sasaki J:Takada Y:Matsunaga A:Fukui J:Albers JJ:Arakawa K:,Arterioscler Thromb Vasc Biol,1996,16,1416 Created page with {{JASReference|mutation= APOA1/Dup/533/23 |title=A cysteine-containing truncated apo A-I variant associated with HDL deficiency |doi=10.1161/​01.ATV.16.12.1416 |pmid=8977444 }}
• 16:2316:23, 25 January 2012 diff hist +235 N JASReference:Ohashi K:Ishibashi S:Yamamoto M:Osuga J:Yazaki Y:Yukawa S:Yamada N:,Arterioscler Thromb Vasc Biol,1998,18,1330 Created page with {{JASReference|mutation= APOB/Mut/5344/C-T |title=A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes...
• 16:2216:22, 25 January 2012 diff hist +234 N JASReference:Nagano M:Yamashita S:Hirano K:Kujiraoka T:Ito M:Sagehashi Y:Hattori H:Nakajima N:Maruyama T:Sakai N:Egashira T:Matsuzawa Y:,Arterioscler Thromb Vasc Biol,2001,21,985 Created page with {{JASReference|mutation= CETP/Mut/-69/G-A |title=Point mutation (-69 G--A) in the promoter region of cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteine...
• 16:2116:21, 25 January 2012 diff hist +179 N JASReference:Huang W:Sasaki J:Matsunaga A:Nanimatsu H:Moriyama K:Han H:Kugi M:Koga T:Yamaguchi K:Arakawa K:,Arterioscler Thromb Vasc Biol,1998,18,389 Created page with {{JASReference|mutation= APOA1/Mut/539/T-A |title=A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency |doi=10.1161/​01.ATV.18.3.389 |pmid=9514407 }}
• 16:1316:13, 25 January 2012 diff hist +239 N JASReference:Matsunaga A:Sasaki J:Han H:Huang W:Kugi M:Koga T:Ichiki S:Shinkawa T:Arakawa K:,Arterioscler Thromb Vasc Biol,1999,19,348 No edit summary
• 15:3915:39, 25 January 2012 diff hist +160 N JASReference:Kajinami K:Mabuchi H:Itoh H:Michishita I:Takeda M:Wakasugi T:Koizumi J:Takeda R:,Arterioscler Thromb Vasc Biol,1988,8,187 Created page with {{JASReference|mutation= LDLR/Del/Ex15/6k |title=New variant of low density lipoprotein receptor gene. FH-Tonami |doi=10.1161/​01.ATV.8.2.187 |pmid=2831865 }}
• 15:3515:35, 25 January 2012 diff hist +81 N JASReference:Takagi A:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2005,37,2576 No edit summary
• 15:3015:30, 25 January 2012 diff hist +61 N JASReference:Takagi A:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2007,39,242 Created page with {{JASReference|mutation= LPL/Del/Ex1/ |title= |doi= |pmid= }}
• 15:3015:30, 25 January 2012 diff hist +64 N JASReference:Takagi A:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2006,38,226 Created page with {{JASReference|mutation= LPL/Mut/929/G-C |title= |doi= |pmid= }}
• 15:2315:23, 25 January 2012 diff hist +64 N JASReference:Takata K:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2006,38,225 Created page with {{JASReference|mutation= LPL/Mut/643/G-A |title= |doi= |pmid= }}
• 15:2015:20, 25 January 2012 diff hist +65 Nm JASReference:Matsuyama A:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2002,34,168 moved JASReference:Matsuyama A,Annual Scientific Meeting of the Japan Atherosclerosis Society,2002,34,168 to JASReference:Matsuyama A:,Annual Scientific Meeting of the Japan Atherosclerosis Society,2002,34,168
• 14:5614:56, 25 January 2012 diff hist +185 N JASReference:Hirota R:Kubo N:Hikiji K:Nakajima K:Hata Y:Sakurabayashi I:,Ann Clin Biochem,2002,39,526 Created page with {{JASReference|mutation= LDLR/Ins/327/C |title=Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene |doi=10.1258/000456302320314593 |pmid=12...
• 14:5214:52, 25 January 2012 diff hist +157 N JASReference:Deeb SS:Takata K:Peng RL:Kajiyama G:Albers JJ:,Am J Hum Genet,1990,46,822 Created page with {{JASReference|mutation= APOA2/Mut/185+1/G-A |title=A splice-junction mutation responsible for familial apolipoprotein A-II deficiency |doi= |pmid=2107739 }}