LDLR ELISA Kit for Human(Homo sapiens) | EIAab.comLDLR ELISA Kit for Human(Homo sapiens)

Search Protein-oriented Product center.

For antibodies, ELISA/CLIA, proteins... Product center

Tips

Index > Protein center > LDLR(Gene name) > Human

LDLR (Gene name),

Low-density lipoprotein receptor (Protein name ), LDLR_HUMAN from NCBI database.

top

General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (1)

Feedback

Gene name:

LDLR;

Protein name:

Low-density lipoprotein receptor(LDL receptor);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with LDLRAP1. Interacts with SNX17. Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat.

Function:

Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.

Subcellular Location:

Cell membrane Single-pass type I membrane protein Endomembrane system Single-pass type I membrane protein Membrane clathrin-coated pit Single-pass type I membrane protein Found distributed from the plasma membrane to intracellular compartments.

Protein Attributes:

Sequence length:

860

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

860:

QMVSLEDDVA |

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

Please Sign in.

Related Databases

UniGene:

Hs.213289

String:

P01130

Pfam:

PF07645

SMR:

P01130

KEGG:

hsa:3949

MIM:

143890

Pfam:

PF12662

STRING:

9606.ENSP00000252444

Uniprot:

P01130

FOR

ELISA Kit for Human LDL receptor

Cat.:

E1008r

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human LDL receptor

Cat.:

E1008m

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human LDL receptor

MSDS:

Please sign in first.

ELISA Kit for Human LDL receptor

Cat.:

E1008h

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

ELISA Kit for Human LDL receptor

Cat.:

E1008p

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

ELISA Kit for Human LDL receptor

MSDS:

Please sign in first.

CLIA Kit for Human LDL receptor

Cat.:

U1008r

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human LDL receptor

Cat.:

U1008p

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human LDL receptor

Cat.:

U1008m

Price:

Please sign in first.

MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human LDL receptor

Cat.:

U1008h

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

Please sign in first.

CLIA Kit for Human LDL receptor

MSDS:

Please sign in first.

CLIA Kit for Human LDL receptor

MSDS:

Please sign in first.

Polyclonal Antibody for Human LDL receptor

Cat.:

P1008Rb-h

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human LDL receptor

Cat.:

P1008Rb-m

Price:

Please sign in first.

Packing:

40ug/0.2ml

Polyclonal Antibody for Human LDL receptor

Cat.:

P1008Rb-r

Price:

Please sign in first.

Packing:

40ug/0.2ml

Monoclonal Antibody for Human LDL receptor

Protein for Human LDL receptor

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Citations

[1].

"Anticholesterol Activity of Anacardium occidentale Linn. Does it Involve in Reverse Cholesterol Transport?"

MOHD KAMAL NIK HASAN, IHSAN SAFWAN KAMARAZAMAN

From:Sains Malaysiana

References

1.

"The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA."
Yamamoto T. , Davis C.G. , Brown M.S. , Schneider W.J. , Casey M.L. , Goldstein J.L. , Russell D.W.
Cell39:27-38(1984) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
2.

"The LDL receptor gene: a mosaic of exons shared with different proteins."
Suedhof T.C. , Goldstein J.L. , Brown M.S. , Russell D.W.
Science228:815-822(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

Jia S. , Lv L. , Sun H. , Wang Q. , Wang H. , Zhan L. , Yang Z.
Submitted (2002-05) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
tissue: Liver.
4.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 6)
tissue: Hippocampus.
tissue: Placenta.
tissue: Thalamus.
5.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2004-10) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
6.

Rieder M.J. , da Ponte S.H. , Kuldanek S.A. , Rajkumar N. , Smith J.D. , Toth E.J. , Krauss R.M. , Nickerson D.A.
Submitted (2003-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
7.

"Homo sapiens protein coding cDNA."
Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
Submitted (2005-03) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5)
tissue: Brain.
8.

NHLBI resequencing and genotyping service (RS&G)
Submitted (2008-12) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
9.

"The DNA sequence and biology of human chromosome 19."
Grimwood J. , Gordon L.A. , Olsen A.S. , Terry A. , Schmutz J. , Lamerdin J.E. , Hellsten U. , Goodstein D. , Couronne O. , Tran-Gyamfi M. , Aerts A. , Altherr M. , Ashworth L. , Bajorek E. , Black S. , Branscomb E. , Caenepeel S. , Carrano A.V. , more...
Nature428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
10.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
11.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Lymph.
12.

"Members of the low density lipoprotein receptor family mediate cell entry of a minor-group common cold virus."
Hofer F. , Gruenberger M. , Kowalski H. , Machat H. , Huettinger M. , Kuechler E. , Blaas D.
Proc. Natl. Acad. Sci. U.S.A.91:1839-1842(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 186-210; 394-405; 441-449; 472-495; 521-541 AND 605-617
tissue: Cervix carcinoma.
13.

"Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts."
Davis C.G. , Elhammer A. , Russell D.W. , Schneider W.J. , Kornfeld S. , Brown M.S. , Goldstein J.L.
J. Biol. Chem.261:2828-2838(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION OF AN O-GLYCOSYLATED SITES
14.

"The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis."
Davis C.G. , van Driel I.R. , Russell D.W. , Brown M.S. , Goldstein J.L.
J. Biol. Chem.262:4075-4082(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF CYTOPLASMIC DOMAIN
15.

"Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands."
Liu Y. , Jones M. , Hingtgen C.M. , Bu G. , Laribee N. , Tanzi R.E. , Moir R.D. , Nath A. , He J.J.
Nat. Med.6:1380-1387(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HIV-1 TAT
16.

"ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2."
He G. , Gupta S. , Yi M. , Michaely P. , Hobbs H.H. , Cohen J.C.
J. Biol. Chem.277:44044-44049(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH LDLRAP1
17.

"The adaptor protein beta-arrestin2 enhances endocytosis of the low density lipoprotein receptor."
Wu J.-H. , Peppel K. , Nelson C.D. , Lin F.-T. , Kohout T.A. , Miller W.E. , Exum S.T. , Freedman N.J.
J. Biol. Chem.278:44238-44245(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH ARRB1;MUTAGENESIS OF TYR-828 AND SER-854
18.

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Zhang H. , Li X.-J. , Martin D.B. , Aebersold R.
Nat. Biotechnol.21:660-666(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-657
19.

"Infectious hepatitis C virus pseudo-particles containing functional E1-E2 envelope protein complexes."
Bartosch B. , Dubuisson J. , Cosset F.-L.
J. Exp. Med.197:633-642(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HCV E1/E2 ENVELOPE HETERODIMER
20.

"Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17."
Burden J.J. , Sun X.-M. , Garcia Garcia A.B. , Soutar A.K.
J. Biol. Chem.279:16237-16245(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SNX17
21.

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-657
tissue: Plasma.
22.

"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
Rush J. , Moritz A. , Lee K.A. , Guo A. , Goss V.L. , Spek E.J. , Zhang H. , Zha X.-M. , Polakiewicz R.D. , Comb M.J.
Nat. Biotechnol.23:94-101(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
23.

"The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR."
Nassoury N. , Blasiole D.A. , Tebon Oler A. , Benjannet S. , Hamelin J. , Poupon V. , McPherson P.S. , Attie A.D. , Prat A. , Seidah N.G.
Traffic8:718-732(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;INTERACTION WITH PCSK9
24.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-657
tissue: Liver.
25.

"LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor."
Zelcer N. , Hong C. , Boyadjian R. , Tontonoz P.
Science325:100-104(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;GLYCOSYLATION;CHARACTERIZATION OF VARIANT SAINT OMER ASP-546;MUTAGENESIS OF LYS-811; LYS-816; LYS-830 AND CYS-839;UBIQUITINATION
26.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
27.

"A two-step binding model of PCSK9 interaction with the low density lipoprotein receptor."
Yamamoto T. , Lu C. , Ryan R.O.
J. Biol. Chem.286:5464-5470(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PCSK9
28.

"Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor."
Daly N.L. , Scanlon M.J. , Djordjevic J.T. , Kroon P.A. , Smith R.
Proc. Natl. Acad. Sci. U.S.A.92:6334-6338(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 20-67
29.

"Three-dimensional structure of the second cysteine-rich repeat from the human low-density lipoprotein receptor."
Daly N.L. , Djordjevic J.T. , Kroon P.A. , Smith R.
Biochemistry34:14474-14481(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 65-104
30.

"Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module."
Fass D. , Blacklow S.C. , Kim P.S. , Berger J.M.
Nature388:691-693(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 196-232
31.

"NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor."
Kurniawan N.D. , Atkins A.R. , Bieri S. , Brown C.J. , Brereton I.M. , Kroon P.A. , Smith R.
Protein Sci.9:1282-1293(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 20-104;DISULFIDE BONDS
32.

"Structure of the LDL receptor extracellular domain at endosomal pH."
Rudenko G. , Henry L. , Henderson K. , Ichtchenko K. , Brown M.S. , Goldstein J.L. , Deisenhofer J.
Science298:2353-2358(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (3.7 ANGSTROMS) OF 22-720;DISULFIDE BONDS
33.

"Molecular genetics of the LDL receptor gene in familial hypercholesterolemia."
Hobbs H.H. , Brown M.S. , Goldstein J.L.
Hum. Mutat.1:445-466(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON FH VARIANTS
34.

"Software and database for the analysis of mutations in the human LDL receptor gene."
Varret M. , Rabes J.-P. , Collod-Beroud G. , Junien J. , Boileau C. , Beroud C.
Nucleic Acids Res.25:172-180(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON FH VARIANTS
35.

"Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia."
Leitersdorf E. , Hobbs H.H. , Fourie A.M. , Jacobs M. , van der Westhuyzen D.R. , Coetzee G.A.
Proc. Natl. Acad. Sci. U.S.A.85:7912-7916(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH 47-ASP-GLY-48 DEL
36.

"Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners."
Leitersdorf E. , van der Westhuyzen D.R. , Coetzee G.A. , Hobbs H.H.
J. Clin. Invest.84:954-961(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH ASN-175; GLU-227 AND MET-429
37.

"The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors."
Davis C.G. , Lehrman M.A. , Russell D.W. , Anderson R.G.W. , Brown M.S. , Goldstein J.L.
Cell45:15-24(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH CYS-828
38.

"Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin."
Rubinsztein D.C. , Jialal I. , Leitersdorf E. , Coetzee G.A. , van der Westhuyzen D.R.
Biochim. Biophys. Acta1182:75-82(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TYR-90 AND LYS-140
39.

"Common low-density lipoprotein receptor mutations in the French Canadian population."
Leitersdorf E. , Tobin E.J. , Davignon J. , Hobbs H.H.
J. Clin. Invest.85:1014-1023(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH GLY-87; LYS-228 AND TYR-667
40.

"A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor."
Miyake Y. , Tajima S. , Funahashi T. , Yamamura T. , Yamamoto A.
Eur. J. Biochem.210:1-7(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH HIS-433
41.

"A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews."
Meiner V. , Landsberger D. , Berkman N. , Reshef A. , Segal P. , Seftel H.C. , van der Westhuyzen D.R. , Jeenah M.S. , Coetzee G.A. , Leitersdorf E.
Am. J. Hum. Genet.49:443-449(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH GLY-218 DEL
42.

"A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews."
Leitersdorf E. , Reshef A. , Meiner V. , Dann E.J. , Beigel Y. , van Roggen F.G. , van der Westhuyzen D.R. , Coetzee G.A.
Hum. Genet.91:141-147(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH HIS-168
43.

"A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)."
Lelli N. , Garuti R. , Pedrazzi P. , Ghisellini M. , Simone M.L. , Tiozzo R. , Cattin L. , Valenti M. , Rolleri M. , Bertolini S. , Stefanutti C. , Calandra S.
Hum. Genet.93:538-540(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH PHE-318
44.

"Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors."
Soutar A.K. , Knight B.L. , Patel D.D.
Proc. Natl. Acad. Sci. U.S.A.86:4166-4170(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH LEU-685
45.

"Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin."
Rubinsztein D.C. , Coetzee G.A. , Marais A.D. , Leitersdorf E. , Seftel H.C. , van der Westhuyzen D.R.
J. Lipid Res.33:1647-1655(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH LEU-685
46.

"Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene."
Koivisto U.-M. , Viikari J.S. , Kontula K.
Am. J. Hum. Genet.57:789-797(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH PORI HIS-401 AND TURKU ASP-844
47.

"Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population."
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.15:1713-1718(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH LYS-140; SER-338 AND LEU-685
48.

"Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia."
Tricot-Guerber F. , Saint-Jore B. , Valenti K. , Foulon T. , Bost M. , Hadjian A.J.
Hum. Mutat.6:87-88(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH FRENCH HIS-564
49.

"An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia."
Ekstroem U. , Abrahamson M. , Sveger T. , Lombardi P. , Nilsson-Ehle P.
Hum. Genet.96:147-150(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH LYS-277; THR-423 AND ASN-579
50.

"Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia."
Leren T.P. , Solberg K. , Rodningen O.K. , Tonstad S. , Ose L.
Hum. Genet.96:241-242(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH NORWEGIAN ASN-487 DEL
51.

"Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia."
Geisel J. , Holzem G. , Oette K.
Hum. Genet.96:301-304(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH COLOGNE GLY-221; TYR-221 AND VAL-224
52.

"Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana."
Pereira E. , Ferreira R. , Hermelin B. , Thomas G. , Bernard C. , Bertrand V. , Nassiff H. , Mendez del Castillo D. , Bereziat G. , Benlian P.
Hum. Genet.96:319-322(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH LA HABANA LYS-277; MET-429 AND MET-797
53.

"Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia."
Gundersen K.E. , Solberg K. , Rodningen O.K. , Tonstad S. , Ose L. , Berg K. , Leren T.P.
Clin. Genet.49:85-87(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TYR-168 AND ARG-366
54.

"A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects."
Sundvold H. , Solberg K. , Tonstad S. , Rodningen O.K. , Ose L. , Berg K. , Leren T.P.
Hum. Mutat.7:70-71(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH GLY-231
55.

"Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom."
Webb J.C. , Sun X.-M. , McCarthy S.N. , Neuwirth C. , Thompson G.R. , Knigh B. , Soutar A.K.
J. Lipid Res.37:368-381(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH ARG-197; TYR-248; ALA-301; TRP-302 AND PRO-350
56.

"Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics."
Peeters A.V. , van Gaal L.F. , du Plessis L. , Lombardi M.P.R. , Havekes L.M. , Kotze M.J.
Hum. Genet.100:266-270(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH LEU-685
57.

"Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia."
Jensen H.K. , Jensen T.G. , Faergeman O. , Jensen L.G. , Andresen B.S. , Corydon M.J. , Andreasen P.H. , Hansen P.S. , Heath F. , Bolund L. , Gregersen N.
Hum. Mutat.9:437-444(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH HIS-564 AND 799-LEU--PHE-801 DEL
58.

"Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia."
Day I.N.M. , Whittall R.A. , O'Dell S.D. , Haddad L. , Bolla M.K. , Gudnason V. , Humphries S.E.
Hum. Mutat.10:116-127(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH
59.

"Molecular genetics of familial hypercholesterolaemia in Norway."
Leren T.P. , Tonstad S. , Gundersen K.E. , Bakken K.S. , Rodningen O.K. , Sundvold H. , Ose L. , Berg K.
J. Intern. Med.241:185-194(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH PRO-56; TYR-175; TYR-356; VAL-401 AND TRP-416
60.

"LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias."
Gorski B. , Kubalska J. , Naruszewicz M. , Lubinski J.
Hum. Genet.102:562-565(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH LEU-177; GLY-218 DEL; SER-564 AND GLU-592
61.

"Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians."
Couture P. , Vohl M.-C. , Gagne C. , Gaudet D. , Torres A.L. , Lupien P.J. , Despres J.-P. , Labrie F. , Simard J. , Moorjani S.
Hum. Mutat. Suppl.1:S226-S231(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TRP-173 AND ARG-368
62.

"Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia."
Thiart R. , Loubser O. , de Villiers J.N.P. , Marx M.P. , Zaire R. , Raal F.J. , Kotze M.J.
Hum. Mutat. Suppl.1:S232-S233(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH GLN-416 AND MET-429
63.

"Possible common mutations in the low density lipoprotein receptor gene in Chinese."
Mak Y.T. , Zhang J. , Chan Y.S. , Mak T.W.L. , Tomlinson B. , Masarei J.R.L. , Pang C.P.
Hum. Mutat. Suppl.1:S310-S313(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TYR-329; ARG-414 AND MET-429
64.

"Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia."
Cenarro A. , Jensen H.K. , Casao E. , Civeira F. , Gonzalez-Bonillo J. , Rodriguez-Rey J.C. , Gregersen N. , Pocovi M.
Hum. Mutat.11:413-413(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH
65.

"Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia."
Motti C. , Bertolini S. , Rampa P. , Trovatello G. , Liberatoscioli L. , Calandra S. , Federici G. , Cortese C.
Hum. Mutat.12:290-290(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH CHIETI-3 GLU-228 DELINS CYS-LYS
66.

"A novel single amino acid substitution in exon 6 of the low-density lipoprotein receptor gene in a Syrian family."
Vergopoulos A. , Bajari T. , Jouma M. , Aydin A. , Boehring S. , Luft F.C. , Schuster H.
Hum. Mutat.12:365-365(1998)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH TYR-276
67.

"Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene."
Hirayama T. , Yamaki E. , Hata A. , Tsuji M. , Hashimoto K. , Yamamoto M. , Emi M.
J. Hum. Genet.43:250-254(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TYR-379 AND SER-608
68.

"Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland."
Lee W.K. , Haddad L. , Macleod M.J. , Dorrance A.M. , Wilson D.J. , Gaffney D. , Dominiczak M.H. , Packard C.J. , Day I.N. , Humphries S.E. , Dominiczak A.F.
J. Med. Genet.35:573-578(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH GLASCO TYR-184
69.

"An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)."
Ekstroem U. , Abrahamson M. , Floren C.-H. , Tollig H. , Wettrell G. , Nilsson G. , Sun X.-M. , Soutar A.K. , Nilsson-Ehle P.
Clin. Genet.55:332-339(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH PHE-261
70.

"Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations."
Ebhardt M. , Schmidt H. , Doerk T. , Tietge U. , Haas R. , Manns M.-P. , Schmidtke J. , Stuhrmann M.
Hum. Mutat.13:257-257(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564
71.

"Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia."
Hattori H. , Nagano M. , Iwata F. , Homma Y. , Egashira T. , Okada T.
Hum. Mutat.14:87-87(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH SER-338; LEU-403; THR-431; VAL-568 AND LYS-714
72.

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARG-2; ILE-468 AND GLN-814
73.

Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.23:373-373(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
74.

"Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype."
Bertolini S. , Cantafora A. , Averna M. , Cortese C. , Motti C. , Martini S. , Pes G. , Postiglione A. , Stefanutti C. , Blotta I. , Pisciotta L. , Rolleri M. , Langheim S. , Ghisellini M. , Rabbone I. , Calandra S.
Arterioscler. Thromb. Vasc. Biol.20:E41-E52(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH PHE-134; TRP-134; TYR-222; PRO-254; ARG-276; ARG-318; THR-370; GLY-415 AND TYR-579
75.

"Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree."
Miltiadous G. , Elisaf M. , Xenophontos S. , Manoli P. , Cariolou M.A.
Hum. Mutat.16:277-277(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH THR-451
76.

"Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia."
Thiart R. , Scholtz C.L. , Vergotine J. , Hoogendijk C.F. , de Villiers J.N.P. , Nissen H. , Brusgaard K. , Gaffney D. , Hoffs M.S. , Vermaak W.J.H. , Kotze M.J.
J. Med. Genet.37:514-519(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH 47-ASP-GLY-48 DEL;VARIANTS HIS-172; TRP-253; GLN-406; LYS-408; LEU-699 AND GLN-814
77.

"A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia."
Takahashi M. , Ikeda U. , Takahashi S. , Hattori H. , Iwasaki T. , Ishihara M. , Egashira T. , Honma S. , Asano Y. , Shimada K.A.
Clin. Genet.59:290-292(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH SER-46
78.

"Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk."
Simon Broome familial hyperlipidemia register group and scientific steering committee , Humphries S.E. , Whittall R.A. , Hubbart C.S. , Maplebeck S. , Cooper J.A. , Soutar A.K. , Naoumova R. , Thompson G.R. , Seed M. , Durrington P.N. , Miller J.P. , Betteridge D.J.B. , Neil H.A.W.
J. Med. Genet.43:943-949(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358; PRO-479; HIS-482; ARG-677 AND LEU-685
79.

"The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene."
Abifadel M. , Rabes J.-P. , Jambart S. , Halaby G. , Gannage-Yared M.-H. , Sarkis A. , Beaino G. , Varret M. , Salem N. , Corbani S. , Aydenian H. , Junien C. , Munnich A. , Boileau C.
Hum. Mutat.30:E682-E691(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS FH PRO-254; TYR-356; TYR-358; THR-451 AND SER-826
80.

"Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia."
Al-Khateeb A. , Zahri M.K. , Mohamed M.S. , Sasongko T.H. , Ibrahim S. , Yusof Z. , Zilfalil B.A.
BMC Med. Genet.12:40-40(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HIS-139; LYS-201; SER-255; ASN-304 AND GLY-471
81.

"A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland."
Walus-Miarka M. , Sanak M. , Idzior-Walus B. , Miarka P. , Witek P. , Malecki M.T. , Czarnecka D.
Mol. Biol. Rep.39:5181-5186(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FH PHE-329

Product Feedback Wall

* Email:
*Comments: