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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 2
1986 1
1987 3
1988 6
1989 10
1990 11
1991 15
1992 14
1993 20
1994 14
1995 44
1996 41
1997 47
1998 64
1999 53
2000 51
2001 56
2002 46
2003 79
2004 85
2005 91
2006 115
2007 109
2008 124
2009 122
2010 131
2011 150
2012 181
2013 172
2014 202
2015 232
2016 236
2017 249
2018 249
2019 231
2020 247
2021 268
2022 251
2023 204
2024 88

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3,816 results

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Page 1
Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.
Go GW, Mani A. Go GW, et al. Yale J Biol Med. 2012 Mar;85(1):19-28. Epub 2012 Mar 29. Yale J Biol Med. 2012. PMID: 22461740 Free PMC article. Review.
The LDLR family of proteins is involved in lipoproteins trafficking. While the role of LDLR in cardiovascular disease has been widely studied, only recently the role of other members of the LDLR proteins in lipoprotein homeostasis and atherosclerosis has emer …
The LDLR family of proteins is involved in lipoproteins trafficking. While the role of LDLR in cardiovascular disease has been …
LDLR gene's promoter region hypermethylation in patients with familial hypercholesterolemia.
Zorzo RA, Suen VMM, Santos JE, Silva-Jr WA, Suazo VK, Honorato ALSC, Santos RD, Jannes CE, Pereira A, Krieger JE, Liberatore-Jr RDR. Zorzo RA, et al. Sci Rep. 2023 Jun 7;13(1):9241. doi: 10.1038/s41598-023-34639-1. Sci Rep. 2023. PMID: 37286669 Free PMC article.
All DNA samples were tested for methylation in the CpG islands of the three genes. The prevalence of FH relative to each gene was determined in both groups and the respective prevalence ratios (PRs) were calculated. The methylation analysis of APOB and PCSK9 was neg …
All DNA samples were tested for methylation in the CpG islands of the three genes. The prevalence of FH relative to each gene …
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S. Bertolini S, et al. Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19. Atherosclerosis. 2013. PMID: 23375686
METHODS: The resequencing of LDLR, PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects clinically heterozygous ADH and in 52 patients clinically homozygous ADH. ...Among the patients with homozygous ADH, 51 were carriers of …
METHODS: The resequencing of LDLR, PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects …
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD, Giacobbe C, Palma D, Iannuzzo G, Gentile M, Calcaterra I, Guardamagna O, Auricchio R, Di Minno MND, Fortunato G. Di Taranto MD, et al. Clin Genet. 2021 Nov;100(5):529-541. doi: 10.1111/cge.14036. Epub 2021 Aug 3. Clin Genet. 2021. PMID: 34297352 Free PMC article.
Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL-cholesterol and premature cardiovascular disease. ...Genetic screening was performed by traditional sequenc …
Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is cha …
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Abifadel M, et al. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein r …
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low- …
The pro-inflammatory effects of miR-155 promote liver fibrosis and alcohol-induced steatohepatitis.
Bala S, Csak T, Saha B, Zatsiorsky J, Kodys K, Catalano D, Satishchandran A, Szabo G. Bala S, et al. J Hepatol. 2016 Jun;64(6):1378-87. doi: 10.1016/j.jhep.2016.01.035. Epub 2016 Feb 8. J Hepatol. 2016. PMID: 26867493 Free PMC article.
Treatment with a miR-155 inhibitor increased PPARgamma expression in naive and alcohol treated RAW macrophages. Alcohol increased lipid metabolism gene expression (FABP4, LXRalpha, ACC1 and LDLR) in WT mice and this was prevented in KO mice. ...Kupffer cells isolate …
Treatment with a miR-155 inhibitor increased PPARgamma expression in naive and alcohol treated RAW macrophages. Alcohol increased lipid meta …
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
Molfetta GA, Zanette DL, Santos JE, Silva WA Jr. Molfetta GA, et al. Genet Mol Res. 2017 Aug 31;16(3). doi: 10.4238/gmr16039226. Genet Mol Res. 2017. PMID: 28873201 Free article.
Here we sequenced the entire LDLR gene-coding region to screen for mutations in 32 patients diagnosed with FH, and we have found 20 mutations including synonymous, missense, and intronic mutations. ...Our study corroborates the broad spectrum of mutations distribute …
Here we sequenced the entire LDLR gene-coding region to screen for mutations in 32 patients diagnosed with FH, and we have fou …
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M. Villéger L, et al. Hum Mutat. 2002 Aug;20(2):81-7. doi: 10.1002/humu.10102. Hum Mutat. 2002. PMID: 12124988 Review.
Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), one of the most frequent hereditary dominant disorders. ...The database has been recently modified to fulfill the recommendations of the Nomenclature Working Group for human gene …
Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), one of the most frequent hereditary domina …
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE. Leigh S, et al. J Med Genet. 2017 Apr;54(4):217-223. doi: 10.1136/jmedgenet-2016-104054. Epub 2016 Nov 7. J Med Genet. 2017. PMID: 27821657 Free PMC article.
BACKGROUND: Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (LDLR) gene. Predicting whether novel variants are pathogenic may not be straightforward, especially for missense and synonymous …
BACKGROUND: Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor ( …
The study of familial hypercholesterolemia in Italy: A narrative review.
Bertolini S, Pisciotta L, Fasano T, Rabacchi C, Calandra S. Bertolini S, et al. Atheroscler Suppl. 2017 Oct;29:1-10. doi: 10.1016/j.atherosclerosissup.2017.07.003. Atheroscler Suppl. 2017. PMID: 28965614 Free article. Review.
In most patients we confirmed the clinical diagnosis by showing a reduced LDLR activity in skin fibroblasts. After the isolation of LDLR cDNA and the characterization of the corresponding gene by the Dallas group, we started a systematic molecular investigati …
In most patients we confirmed the clinical diagnosis by showing a reduced LDLR activity in skin fibroblasts. After the isolation of …
3,816 results