ABCA1 ELISA Kit for Human(Homo sapiens) | EIAab.comABCA1 ELISA Kit for Human(Homo sapiens)

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ABCA1 (Gene name),

ATP-binding cassette sub-family A member 1 (Protein name ), ABCA1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (1)

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Gene name:

ABCA1(ABC1;CERP);

Protein name:

ATP-binding cassette sub-family A member 1;

Alternative:

Cholesterol efflux regulatory protein;ATP-binding cassette transporter 1(ABC-1;ATP-binding cassette 1);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with MEGF10.

Function:

cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.

Subcellular Location:

Membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

2261

Sequence:

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1750:

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1850:

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2050:

2100:

2150:

2200:

2250:

2261:

LQDEKVKESY | V

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

KEGG:

hsa:19

String:

O95477

Pfam:

PF00005

UniGene:

Hs.728215

SMR:

O95477

UniGene:

Hs.659274

MIM:

205400

Uniprot:

O95477

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ELISA Kit for Human ATP-binding cassette sub-family A member 1

Cat.:

E1242h

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96T

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ELISA Kit for Human ATP-binding cassette sub-family A member 1

Cat.:

E1242m

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96T

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CLIA Kit for Human ATP-binding cassette sub-family A member 1

Cat.:

U1242m

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Looking for manual.

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96T

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CLIA Kit for Human ATP-binding cassette sub-family A member 1

Cat.:

U1242h

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Manual:

Looking for manual.

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96T

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Polyclonal Antibody for Human ATP-binding cassette sub-family A member 1

Cat.:

P1242Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human ATP-binding cassette sub-family A member 1

Cat.:

P1242Rb-m

Price:

Please sign in first.

Packing:

40ug/0.2ml

Monoclonal Antibody for Human ATP-binding cassette sub-family A member 1

Protein for Human ATP-binding cassette sub-family A member 1

R&D Technical Data

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

Precision

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Recovery

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Linearity

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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.

"Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter."
Santamarina-Fojo S. , Peterson K.M. , Knapper C.L. , Qiu Y. , Freeman L.A. , Cheng J.-F. , Osorio J. , Remaley A.T. , Yang X.-P. , Haudenschild C.C. , Prades C. , Chimini G. , Blackmon E.E. , Francois T.L. , Duverger N. , Rubin E.M. , Rosier M. , Denefle P. , more...
Proc. Natl. Acad. Sci. U.S.A.97:7987-7992(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA];VARIANT ARG-1587
2.

"ABCA1 gene expression and apoA-I-mediated cholesterol efflux are regulated by LXR."
Schwartz K. , Lawn R.M. , Wade D.P.
Submitted (2000-07) 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 [MRNA];VARIANT ARG-1587
tissue: Skin.
3.

"Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences."
Qiu Y. , Cavelier L. , Chiu S. , Yang X. , Rubin E. , Cheng J.-F.
Genomics73:66-76(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-1587
4.

"A new topological model of functional human ABCA1-signal peptide cleavage and glycosylation of a large extracellular domain."
Tanaka A.R. , Abe-Dohmae S. , Arakawa R. , Sadanami K. , Kidera A. , Kioka N. , Amachi T. , Yokoyama S. , Ueda K.
Submitted (2001-02) 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]
5.

"DNA sequence and analysis of human chromosome 9."
Humphray S.J. , Oliver K. , Hunt A.R. , Plumb R.W. , Loveland J.E. , Howe K.L. , Andrews T.D. , Searle S. , Hunt S.E. , Scott C.E. , Jones M.C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Ashwell R.I.S. , Babbage A.K. , Babbage S. , Bagguley C.L. , more...
Nature429:369-374(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]
6.

"Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages."
Langmann T. , Klucken J. , Reil M. , Liebisch G. , Luciani M.-F. , Chimini G. , Kaminski W.E. , Schmitz G.
Biochem. Biophys. Res. Commun.257:29-33(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: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261;VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168
7.

"Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1."
Rust S. , Rosier M. , Funke H. , Real J. , Amoura Z. , Piette J.-C. , Deleuze J.-F. , Brewer H.B. Jr. , Duverger N. , Denefle P. , Assmann G.
Nat. Genet.22:352-355(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261;VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168
8.

"Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux."
See R.H. , Caday-Malcolm R.A. , Singaraja R.R. , Zhou S. , Silverston A. , Huber M.T. , Moran J. , James E.R. , Janoo R. , Savill J.M. , Rigot V. , Zhang L.H. , Wang M. , Chimini G. , Wellington C.L. , Tafuri S.R. , Hayden M.R.
J. Biol. Chem.277:41835-41842(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: PHOSPHORYLATION AT SER-1042 AND SER-2054
9.

"The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux."
Porsch-Oezcueruemez M. , Langmann T. , Heimerl S. , Borsukova H. , Kaminski W.E. , Drobnik W. , Honer C. , Schumacher C. , Schmitz G.
J. Biol. Chem.276:12427-12433(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: REPRESSION BY ZNF202
10.

"Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway."
Kaplan R. , Gan X. , Menke J.G. , Wright S.D. , Cai T.-Q.
J. Lipid Res.43:952-959(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: INDUCTION BY LPS
11.

"Cooperation between engulfment receptors: the case of ABCA1 and MEGF10."
Hamon Y. , Trompier D. , Ma Z. , Venegas V. , Pophillat M. , Mignotte V. , Zhou Z. , Chimini G.
PLoS ONE1:E120-E120(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: INTERACTION WITH MEGF10
12.

"Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene."
Singaraja R.R. , Brunham L.R. , Visscher H. , Kastelein J.J.P. , Hayden M.R.
Arterioscler. Thromb. Vasc. Biol.23:1322-1332(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: REVIEW ON VARIANTS
13.

"Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function."
Singaraja R.R. , Kang M.H. , Vaid K. , Sanders S.S. , Vilas G.L. , Arstikaitis P. , Coutinho J. , Drisdel R.C. , El-Husseini Ael D. , Green W.N. , Berthiaume L. , Hayden M.R.
Circ. Res.105:138-147(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: PALMITOYLATION AT CYS-3; CYS-23; CYS-1110 AND CYS-1111;SUBCELLULAR LOCATION
14.

"Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1."
Hozoji M. , Kimura Y. , Kioka N. , Ueda K.
J. Biol. Chem.284:11293-11300(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: DISULFIDE BONDS;SUBCELLULAR LOCATION
15.

"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-98 AND ASN-244
tissue: Liver.
16.

"Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux."
Marcil M. , Brooks-Wilson A. , Clee S.M. , Roomp K. , Zhang L.-H. , Yu L. , Collins J.A. , van Dam M. , Molhuizen H.O.F. , Loubser O. , Ouellette B.F.F. , Sensen C.W. , Fichter K. , Mott S. , Denis M. , Boucher B. , Pimstone S. , Genest J. Jr. , more...
Lancet354:1341-1346(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 HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL
17.

"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency."
Brooks-Wilson A. , Marcil M. , Clee S.M. , Zhang L.-H. , Roomp K. , van Dam M. , Yu L. , Brewer C. , Collins J.A. , Molhuizen H.O.F. , Loubser O. , Ouelette B.F.F. , Fichter K. , Ashbourne-Excoffon K.J.D. , Sensen C.W. , Scherer S. , Mott S. , Denis M. , more...
Nat. Genet.22:336-345(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 HDLD1 ARG-597 AND ARG-1477;VARIANT HDLD2 LEU-693 DEL
18.

"The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease."
Bodzioch M. , Orso E. , Klucken J. , Langmann T. , Boettcher A. , Diederich W. , Drobnik W. , Barlage S. , Buechler C. , Porsch-Oezcueruemez M. , Kaminski W.E. , Hahmann H.W. , Oette K. , Rothe G. , Aslanidis C. , Lackner K.J. , Schmitz G.
Nat. Genet.22:347-351(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 HDLD1 SER-590; SER-935 AND VAL-937;VARIANTS ALA-399 AND MET-883
19.

"Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes."
Clee S.M. , Kastelein J.J.P. , van Dam M. , Marcil M. , Roomp K. , Zwarts K.Y. , Collins J.A. , Roelants R. , Tamasawa N. , Stulc T. , Suda T. , Ceska R. , Boucher B. , Rondeau C. , DeSouich C. , Brooks-Wilson A. , Molhuizen H.O.F. , Frohlich J. , more...
J. Clin. Invest.106:1263-1270(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 HDLD1 ARG-597; ILE-929 AND ARG-1477;VARIANTS HDLD2 LEU-693 DEL; THR-1091; 1893-GLU-ASP-1894 DEL AND LEU-2150
20.

"Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds."
Brousseau M.E. , Schaefer E.J. , Dupuis J. , Eustace B. , Van Eerdewegh P. , Goldkamp A.L. , Thurston L.M. , FitzGerald M.G. , Yasek-McKenna D. , O'Neill G. , Eberhart G.P. , Weiffenbach B. , Ordovas J.M. , Freeman M.W. , Brown R.H. Jr. , Gu J.Z.
J. Lipid Res.41:433-441(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 HDLD1 ASN-1289 AND HIS-1800
21.

"Common and rare ABCA1 variants affecting plasma HDL cholesterol."
Wang J. , Burnett J.R. , Near S. , Young K. , Zinman B. , Hanley A.J.G. , Connelly P.W. , Harris S.B. , Hegele R.A.
Arterioscler. Thromb. Vasc. Biol.20:1983-1989(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 HDLD1 ASP-1046;VARIANT HDLD2 CYS-230;VARIANTS LYS-219; ILE-825; MET-883 AND ARG-1587
22.

"A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease."
Bertolini S. , Pisciotta L. , Seri M. , Cusano R. , Cantafora A. , Calabresi L. , Franceschini G. , Ravazzolo R. , Calandra S.
Atherosclerosis154:599-605(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 HDLD1 TRP-587;VARIANT PRO-2168
23.

"Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease."
Brousseau M.E. , Bodzioch M. , Schaefer E.J. , Goldkamp A.L. , Kielar D. , Probst M. , Ordovas J.M. , Aslanidis C. , Lackner K.J. , Bloomfield Rubins H. , Collins D. , Robins S.J. , Wilson P.W.F. , Schmitz G.
Atherosclerosis154:607-611(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: VARIANTS LYS-219; MET-883 AND ASP-1172
24.

"Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome."
Lapicka-Bodzioch K. , Bodzioch M. , Kruell M. , Kielar D. , Probst M. , Kiec B. , Andrikovics H. , Boettcher A. , Hubacek J. , Aslanidis C. , Suttorp N. , Schmitz G.
Biochim. Biophys. Acta1537:42-48(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 HDLD1 LEU-1506
25.

"Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease."
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. Acta1537:71-78(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: VARIANTS HDLD1 ASN-1289 AND TRP-2081;VARIANT LYS-219
26.

"Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease."
Clee S.M. , Zwinderman A.H. , Engert J.C. , Zwarts K.Y. , Molhuizen H.O.F. , Roomp K. , Jukema J.W. , van Wijland M. , van Dam M. , Hudson T.J. , Brooks-Wilson A. , Genest J. Jr. , Kastelein J.J.P. , Hayden M.R.
Circulation103:1198-1205(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: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731
27.

"ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease."
Hong S.H. , Rhyne J. , Zeller K. , Miller M.
Atherosclerosis164:245-250(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: VARIANT HDLD2 LEU-85
28.

"Novel ABCA1 compound variant associated with HDL cholesterol deficiency."
Hong S.H. , Rhyne J. , Zeller K. , Miller M.
Biochim. Biophys. Acta1587:60-64(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: VARIANTS HDLD2 TYR-1099 AND SER-2009
29.

"Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency."
Nishida Y. , Hirano K. , Tsukamoto K. , Nagano M. , Ikegami C. , Roomp K. , Ishihara M. , Sakane N. , Zhang Z. , Tsujii K. , Matsuyama A. , Ohama T. , Matsuura F. , Ishigami M. , Sakai N. , Hiraoka H. , Hattori H. , Wellington C. , more...
Biochem. Biophys. Res. Commun.290:713-721(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: VARIANT HDLD1 THR-255;VARIANT ATHEROSCLEROSIS ASP-1611
30.

"Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T."
Hong S.H. , Riley W. , Rhyne J. , Friel G. , Miller M.
Clin. Chem.48:2066-2070(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: VARIANT HDLD1 LEU-590
31.

"Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease."
Guo Z. , Inazu A. , Yu W. , Suzumura T. , Okamoto M. , Nohara A. , Higashikata T. , Sano R. , Wakasugi K. , Hayakawa T. , Yoshida K. , Suehiro T. , Schmitz G. , Mabuchi H.
J. Hum. Genet.47:325-329(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: VARIANTS HDLD1 HIS-935 AND SER-935
32.

"Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis."
Ishii J. , Nagano M. , Kujiraoka T. , Ishihara M. , Egashira T. , Takada D. , Tsuji M. , Hattori H. , Emi M.
J. Hum. Genet.47:366-369(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: VARIANT HDLD1 TRP-1680
33.

"Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease."
Hong S.H. , Rhyne J. , Miller M.
Circ. Res.93:1006-1012(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: VARIANT HDLD1 GLN-1851
34.

"ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore."
Tan J.H. , Low P.S. , Tan Y.S. , Tong M.C. , Saha N. , Yang H. , Heng C.K.
Hum. Genet.113:106-117(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: VARIANTS ILE-825 AND MET-883;ASSOCIATION OF VARIANTS ILE-825 AND MET-883 WITH HIGHER PLASMA HDL CHOLESTEROL
35.

"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
Morabia A. , Cayanis E. , Costanza M.C. , Ross B.M. , Flaherty M.S. , Alvin G.B. , Das K. , Gilliam T.C.
Hum. Mol. Genet.12:2733-2743(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: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587
36.

"A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia."
Cenarro A. , Artieda M. , Castillo S. , Mozas P. , Reyes G. , Tejedor D. , Alonso R. , Mata P. , Pocovi M. , Civeira F.
J. Med. Genet.40:163-168(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: VARIANT LYS-219
37.

"Screening for functional sequence variations and mutations in ABCA1."
Probst M.C. , Thumann H. , Aslanidis C. , Langmann T. , Buechler C. , Patsch W. , Baralle F.E. , Dallinga-Thie G.M. , Geisel J. , Keller C. , Menys V.C. , Schmitz G.
Atherosclerosis175:269-279(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: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068;VARIANTS MET-771; SER-2163 AND ILE-2244
38.

"Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."
Pisciotta L. , Hamilton-Craig I. , Tarugi P. , Bellocchio A. , Fasano T. , Alessandrini P. , Bon G.B. , Siepi D. , Mannarino E. , Cattin L. , Averna M. , Cefalu A.B. , Cantafora A. , Calandra S. , Bertolini S.
Atherosclerosis172:309-320(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: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196
39.

"Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency."
Albrecht C. , Baynes K. , Sardini A. , Schepelmann S. , Eden E.R. , Davies S.W. , Higgins C.F. , Feher M.D. , Owen J.S. , Soutar A.K.
Biochim. Biophys. Acta1689:47-57(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: VARIANTS HDLD1 PHE-1379 AND ASP-1704;CHARACTERIZATION OF VARIANTS HDLD1 PHE-1379 AND ASP-1704
40.

"Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population."
Frikke-Schmidt R. , Nordestgaard B.G. , Jensen G.B. , Tybjaerg-Hansen A.
J. Clin. Invest.114:1343-1353(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: VARIANT HDLD1 HIS-1800;VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587
41.

"Multiple rare alleles contribute to low plasma levels of HDL cholesterol."
Cohen J.C. , Kiss R.S. , Pertsemlidis A. , Marcel Y.L. , McPherson R. , Hobbs H.H.
Science305:869-872(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: VARIANT HDLD1 HIS-1800;VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243
42.

"A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome."
Albrecht C. , McVey J.H. , Elliott J.I. , Sardini A. , Kasza I. , Mumford A.D. , Naoumova R.P. , Tuddenham E.G. , Szabo K. , Higgins C.F.
Blood106:542-549(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: VARIANT SCOTT SYNDROME GLN-1925;CHARACTERIZATION OF VARIANT SCOTT SYNDROME GLN-1925
43.

"Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population."
Frikke-Schmidt R. , Nordestgaard B.G. , Schnohr P. , Steffensen R. , Tybjaerg-Hansen A.
J. Am. Coll. Cardiol.46:1516-1520(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: VARIANT ASN-776;ASSOCIATION OF VARIANT ASN-776 WITH INCREASED RISK OF ISCHEMIC HEART DISEASE
44.

"Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency."
Fasano T. , Bocchi L. , Pisciotta L. , Bertolini S. , Calandra S.
J. Lipid Res.46:817-822(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: VARIANT HDLD2 TRP-1897
45.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(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 [LARGE SCALE ANALYSIS] ASP-210; TYR-917; THR-1407 AND THR-2109

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