Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
Boyd, Charles D, Le Saux, Olivier, Urban, Zsolt, Tschuch, Cordula, Csiszar, Katalin, Bacchelli, Barbara, Quaglino, Daniela, Pasquali-Ronchetti, Ivonne, Pope, F. Michael, Richards, Allan, Terry, Sharon, Bercovitch, Lionel, de Paepe, Anne
Published in Nature genetics (01.06.2000)
Published in Nature genetics (01.06.2000)
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Journal Article
Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)
Iliás, Attila, Urbán, Zsolt, Seidl, Thomas L., Le Saux, Olivier, Sinkó, Emese, Boyd, Charles D., Sarkadi, Balázs, Váradi, András
Published in The Journal of biological chemistry (10.05.2002)
Published in The Journal of biological chemistry (10.05.2002)
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Journal Article
Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome
Urbán, Zsolt, Riazi, Sheila, Seidl, Thomas L., Katahira, Jodi, Smoot, Leslie B., Chitayat, David, Boyd, Charles D., Hinek, Aleksander
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Analysis of ABCC6 (MRP6) in normal human tissues
Beck, Konstanze, Hayashi, Kimiko, Dang, Ka'ohimanu, Hayashi, Masando, Boyd, Charles D
Published in Histochemistry and cell biology (01.06.2005)
Published in Histochemistry and cell biology (01.06.2005)
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Journal Article
A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum
Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H.H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Journal Article
The Distribution of Abcc6 in Normal Mouse Tissues Suggests Multiple Functions for this ABC Transporter
Beck, Konstanze, Hayashi, Kimiko, Nishiguchi, Brian, Le Saux, Olivier, Hayashi, Masando, Boyd, Charles D
Published in The journal of histochemistry and cytochemistry (01.07.2003)
Published in The journal of histochemistry and cytochemistry (01.07.2003)
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Journal Article
Comparative immunocytochemical localization of lysyl oxidase (LOX) and the lysyl oxidase-like (LOXL) proteins: changes in the expression of LOXL during development and growth of mouse tissues
Hayashi, Kimiko, Fong, Keith S K, Mercier, Frederic, Boyd, Charles D, Csiszar, Katalin, Hayashi, Masando
Published in Journal of Molecular Histology (01.11.2004)
Published in Journal of Molecular Histology (01.11.2004)
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Journal Article
Lysyl oxidase in development, aging and pathologies of the skin
Szauter, Kornelia Molnarne, Cao, Tongyu, Boyd, Charles D., Csiszar, Katalin
Published in Pathologie biologie (Paris) (01.09.2005)
Published in Pathologie biologie (Paris) (01.09.2005)
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Journal Article
Somatic mutations of the lysyl oxidase gene on chromosome 5q23.1 in colorectal tumors
Csiszar, Katalin, Fong, Sheri F.T., Ujfalusi, Aniko, Krawetz, Stephen A., Salvati, Eugene P., Mackenzie, James W., Boyd, Charles D.
Published in International journal of cancer (10.02.2002)
Published in International journal of cancer (10.02.2002)
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Journal Article
The LOXL2 Gene Encodes a New Lysyl Oxidase-like Protein and Is Expressed at High Levels in Reproductive Tissues
Saux, Claude Jourdan-Le, Tronecker, Heike, Bogic, Ljubica, Bryant-Greenwood, Gillian D., Boyd, Charles D., Csiszar, Katalin
Published in The Journal of biological chemistry (30.04.1999)
Published in The Journal of biological chemistry (30.04.1999)
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Journal Article
dMRP/CG6214 gene of Drosophila is evolutionarily and functionally related to the human multidrug resistance-associated protein family
Tarnay, J.N, Szeri, F, Ilias, A, Annilo, T, Sung, C, Le Saux, O, Varadi, A, Dean, M, Boyd, C.D, Robinow, S
Published in Insect molecular biology (01.10.2004)
Published in Insect molecular biology (01.10.2004)
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Journal Article
Novel Trisaccharide Fatty Acid Ester Identified from the Fruits of Morinda citrifolia (Noni)
Wang, Mingfu, Kikuzaki, Hiroe, Csiszar, Katalin, Boyd, Charles D, Maunakea, Alika, Fong, Sheri F. T, Ghai, Geetha, Rosen, Robert T, Nakatani, Nobuji, Ho, Chi-Tang
Published in Journal of agricultural and food chemistry (01.12.1999)
Published in Journal of agricultural and food chemistry (01.12.1999)
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Journal Article
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
Urbán, Z, Helms, C, Fekete, G, Csiszár, K, Bonnet, D, Munnich, A, Donis-Keller, H, Boyd, C D
Published in American journal of human genetics (01.10.1996)
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Published in American journal of human genetics (01.10.1996)
Journal Article
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
Urban, Z, Michels, V V, Thibodeau, S N, Davis, E C, Bonnefont, J-P, Munnich, A, Eyskens, B, Gewillig, M, Devriendt, K, Boyd, C D
Published in Human genetics (01.06.2000)
Published in Human genetics (01.06.2000)
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Journal Article
A New Gene with Sequence and Structural Similarity to the Gene Encoding Human Lysyl Oxidase (∗)
Kim, Youngho, Boyd, Charles D., Csiszar, Katalin
Published in The Journal of biological chemistry (31.03.1995)
Published in The Journal of biological chemistry (31.03.1995)
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Journal Article
Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene
URBAN, Zsolt, JUN ZHANG, DAVIS, Elaine C, MAEDA, Gregg K, KUMAR, Anil, STALKER, Heather, BELMONT, John W, BOYD, Charles D, WALLACE, Margaret R
Published in Human genetics (01.11.2001)
Published in Human genetics (01.11.2001)
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Journal Article
Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)
Bacchelli, B, Quaglino, D, Gheduzzi, D, Taparelli, F, Boraldi, F, Trolli, B, Le Saux, O, Boyd, C D, Ronchetti, I P
Published in Modern pathology (01.12.1999)
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Published in Modern pathology (01.12.1999)
Journal Article
The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly
Beck, Konstanze, Dang, Kaohimanu, Boyd, Charles D
Published in Journal of Molecular Histology (01.03.2005)
Published in Journal of Molecular Histology (01.03.2005)
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