200 related articles for article (PubMed ID: 23723369)
1. A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.
Cefalù AB; Pirruccello JP; Noto D; Gabriel S; Valenti V; Gupta N; Spina R; Tarugi P; Kathiresan S; Averna MR
Arterioscler Thromb Vasc Biol; 2013 Aug; 33(8):2021-5. PubMed ID: 23723369
[TBL] [Abstract][Full Text] [Related]
2. ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.
Wagner RD; Krul ES; Tang J; Parhofer KG; Garlock K; Talmud P; Schonfeld G
J Lipid Res; 1991 Jun; 32(6):1001-11. PubMed ID: 1940616
[TBL] [Abstract][Full Text] [Related]
3. ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies.
Krul ES; Parhofer KG; Barrett PH; Wagner RD; Schonfeld G
J Lipid Res; 1992 Jul; 33(7):1037-50. PubMed ID: 1431583
[TBL] [Abstract][Full Text] [Related]
4. A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene.
Kim E; Ambroziak P; Véniant MM; Hamilton RL; Young SG
J Biol Chem; 1998 Dec; 273(51):33977-84. PubMed ID: 9852051
[TBL] [Abstract][Full Text] [Related]
5. Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
Pulai JI; Zakeri H; Kwok PY; Kim JH; Wu J; Schonfeld G
Am J Med Genet; 1998 Nov; 80(3):218-20. PubMed ID: 9843041
[TBL] [Abstract][Full Text] [Related]
6. Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes.
Gao F; Luo H; Fu Z; Zhang CT; Zhang R
Acta Diabetol; 2015 Jun; 52(3):531-7. PubMed ID: 25430706
[TBL] [Abstract][Full Text] [Related]
7. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
Yue P; Isley WL; Harris WS; Rosipal S; Akin CD; Schonfeld G
Atherosclerosis; 2005 Jan; 178(1):107-13. PubMed ID: 15585207
[TBL] [Abstract][Full Text] [Related]
8. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
Whitfield AJ; Marais AD; Robertson K; Barrett PH; van Bockxmeer FM; Burnett JR
Hum Mutat; 2003 Aug; 22(2):178. PubMed ID: 12872264
[TBL] [Abstract][Full Text] [Related]
9. Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review.
Rodríguez de Vera-Gómez P; Del Pino-Bellido P; García-González JJ; Sánchez-Jiménez F; Oliva-Rodríguez R; Arrobas-Velilla T; Martínez-Brocca MA
J Clin Lipidol; 2022; 16(5):601-607. PubMed ID: 35918255
[TBL] [Abstract][Full Text] [Related]
10. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).
Tarugi P; Lonardo A; Ballarini G; Erspamer L; Tondelli E; Bertolini S; Calandra S
J Hepatol; 2000 Sep; 33(3):361-70. PubMed ID: 11019990
[TBL] [Abstract][Full Text] [Related]
11. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.
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 Jan; 399(1-2):64-8. PubMed ID: 18848826
[TBL] [Abstract][Full Text] [Related]
12. A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.
Farese RV; Garg A; Pierotti VR; Vega GL; Young SG
J Lipid Res; 1992 Apr; 33(4):569-77. PubMed ID: 1527480
[TBL] [Abstract][Full Text] [Related]
13. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
Rimbert A; Pichelin M; Lecointe S; Marrec M; Le Scouarnec S; Barrak E; Croyal M; Krempf M; Le Marec H; Redon R; Schott JJ; Magré J; Cariou B
Atherosclerosis; 2016 Jul; 250():52-6. PubMed ID: 27179706
[TBL] [Abstract][Full Text] [Related]
14. Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Di Costanzo A; Di Leo E; Noto D; Cefalù AB; Minicocci I; Polito L; D'Erasmo L; Cantisani V; Spina R; Tarugi P; Averna M; Arca M
J Clin Lipidol; 2017; 11(5):1234-1242. PubMed ID: 28733173
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
Yue P; Yuan B; Gerhard DS; Neuman RJ; Isley WL; Harris WS; Schonfeld G
Hum Mutat; 2002 Aug; 20(2):110-6. PubMed ID: 12124991
[TBL] [Abstract][Full Text] [Related]
16. [Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].
Zhang YQ; Wang JS
Zhonghua Er Ke Za Zhi; 2023 Jan; 61(1):70-75. PubMed ID: 36594125
[No Abstract] [Full Text] [Related]
17. A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.
Ohashi K; Ishibashi S; Yamamoto M; Osuga J; Yazaki Y; Yukawa S; Yamada N
Arterioscler Thromb Vasc Biol; 1998 Aug; 18(8):1330-4. PubMed ID: 9714141
[TBL] [Abstract][Full Text] [Related]
18. Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.
Welty FK; Ordovas J; Schaefer EJ; Wilson PW; Young SG
Circulation; 1995 Oct; 92(8):2036-40. PubMed ID: 7554178
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
Noto D; Cefalù AB; Valenti V; Fayer F; Pinotti E; Ditta M; Spina R; Vigna G; Yue P; Kathiresan S; Tarugi P; Averna MR
Arterioscler Thromb Vasc Biol; 2012 Mar; 32(3):805-9. PubMed ID: 22247256
[TBL] [Abstract][Full Text] [Related]
20. Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.
Martín-Morales R; García-Díaz JD; Tarugi P; González-Santos P; Saavedra-Vallejo P; Magnolo L; Mesa-Latorre JM; di Leo E; Valdivielso P
Gene; 2013 Nov; 531(1):92-6. PubMed ID: 24001780
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]