A case of tangier disease with a novel mutation in the c-terminal region of ATP-binding cassette transporter A1

Jing-Zhi Guan; Naoki Tamasawa; Liam R. Brunham; Jun Matsui; Hiroshi Murakami; Toshihiro Suda; Shigeru Ochiai; Masahiro Tsutsui; Kenji Kudou; Kei Satoh; Michael R. Hayden

doi:10.1002/ajmg.a.30284

A case of tangier disease with a novel mutation in the c-terminal region of ATP-binding cassette transporter A1

American Journal of Medical Genetics ◽

10.1002/ajmg.a.30284 ◽

2004 ◽

Vol 130A (4) ◽

pp. 398-401 ◽

Cited By ~ 7

Author(s):

Jing-Zhi Guan ◽

Naoki Tamasawa ◽

Liam R. Brunham ◽

Jun Matsui ◽

Hiroshi Murakami ◽

...

Keyword(s):

Novel Mutation ◽

Terminal Region ◽

Atp Binding ◽

Tangier Disease ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Expression of the ATP-Binding Cassette Transporter Gene ABCG1 (ABC8) in Tangier Disease

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.2001.4863 ◽

2001 ◽

Vol 283 (4) ◽

pp. 821-830 ◽

Cited By ~ 50

Author(s):

Stefan Lorkowski ◽

Mario Kratz ◽

Claudia Wenner ◽

Roland Schmidt ◽

Benedikt Weitkamp ◽

...

Keyword(s):

Atp Binding ◽

Transporter Gene ◽

Tangier Disease ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.96.22.12685 ◽

1999 ◽

Vol 96 (22) ◽

pp. 12685-12690 ◽

Cited By ~ 187

Author(s):

A. T. Remaley ◽

S. Rust ◽

M. Rosier ◽

C. Knapper ◽

L. Naudin ◽

...

Keyword(s):

Genomic Organization ◽

Genetic Defect ◽

Atp Binding ◽

Tangier Disease ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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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

Journal of Human Genetics ◽

10.1007/s100380200044 ◽

2002 ◽

Vol 47 (6) ◽

pp. 325-329 ◽

Cited By ~ 16

Author(s):

Z. Guo ◽

A. Inazu ◽

W. Yu ◽

T. Suzumura ◽

M. Okamoto ◽

...

Keyword(s):

Nucleotide Binding ◽

Japanese Patients ◽

Atp Binding ◽

Missense Mutations ◽

Tangier Disease ◽

Abca1 Gene ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene

Acta Ophthalmologica ◽

10.1111/j.1755-3768.2009.01848.x ◽

2011 ◽

Vol 89 (3) ◽

pp. e297-e298 ◽

Cited By ~ 6

Author(s):

Kaoru Fujinami ◽

Masakazu Akahori ◽

Masaki Fukui ◽

Kazushige Tsunoda ◽

Takeshi Iwata ◽

...

Keyword(s):

Novel Mutation ◽

Atp Binding ◽

Transporter Gene ◽

Central Vision ◽

Stargardt Disease ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Nature Genetics ◽

10.1038/11921 ◽

1999 ◽

Vol 22 (4) ◽

pp. 352-355 ◽

Cited By ~ 1070

Author(s):

Stephan Rust ◽

Marie Rosier ◽

Harald Funke ◽

José Real ◽

Zahir Amoura ◽

...

Keyword(s):

Atp Binding ◽

Tangier Disease ◽

Gene Encoding ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran

Iranian Journal of Pediatrics ◽

10.5812/ijp.2493 ◽

2016 ◽

Vol In Press (In Press) ◽

Author(s):

Farideh Rezaei ◽

Mohammad Shafiei ◽

Gholamreza Shariati ◽

Ali Dehdashtian ◽

Maryam Mohebbi ◽

...

Keyword(s):

Respiratory Distress Syndrome ◽

Respiratory Distress ◽

Distress Syndrome ◽

Novel Mutation ◽

Atp Binding ◽

Term Newborn ◽

Atp Binding Cassette Transporter ◽

Encoding Gene ◽

Southwest Iran ◽

Atp Binding Cassette

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The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

Nature Genetics ◽

10.1038/11914 ◽

1999 ◽

Vol 22 (4) ◽

pp. 347-351 ◽

Cited By ~ 1147

Author(s):

Marek Bodzioch ◽

Evelyn Orsó ◽

Jochen Klucken ◽

Thomas Langmann ◽

Alfred Böttcher ◽

...

Keyword(s):

Atp Binding ◽

Tangier Disease ◽

Gene Encoding ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Interferon-γ Induces Downregulation of Tangier Disease Gene (ATP-Binding-Cassette Transporter 1) in Macrophage-Derived Foam Cells

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/01.atv.20.6.1565 ◽

2000 ◽

Vol 20 (6) ◽

pp. 1565-1571 ◽

Cited By ~ 78

Author(s):

Constantinos G. Panousis ◽

Steven H. Zuckerman

Keyword(s):

Disease Gene ◽

Foam Cells ◽

Interferon Γ ◽

Atp Binding ◽

Tangier Disease ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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2P-0450 Identification of a novel mutation in the ATP-binding cassette transporter G5 (ABCG5) in a Japanese patient with sitosterolemia

Atherosclerosis Supplements ◽

10.1016/s1567-5688(03)90592-7 ◽

2003 ◽

Vol 4 (2) ◽

pp. 138

Author(s):

M. Koseki ◽

A. Matsuyama ◽

M. Ishigami ◽

K. Hirano ◽

N. Sakai ◽

...

Keyword(s):

Japanese Patient ◽

Novel Mutation ◽

Atp Binding ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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Faculty Opinions recommendation of Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1090378.543628 ◽

2007 ◽

Author(s):

Rahul Kuver

Keyword(s):

Common Variant ◽

Atp Binding ◽

Atp Binding Cassette Transporter ◽

Atp Binding Cassette

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