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Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.
Published in:
Nature Medicine, 2002, v. 8, n. 5, p. 514, doi. 10.1038/0502-514
By:
- Sotiriou, Sotiria;
- Gispert, Suzana;
- Cheng, Jun;
- Wang, Yaohui;
- Chen, Amy;
- Hoogstraten-Miller, Shelley;
- Miller, Georgina F.;
- Kwon, Oran;
- Levine, Mark;
- Guttentag, Susan H.;
- Nussbaum, Robert L.
Publication type:
Article
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Published in:
2007
By:
- Galeano, Belinda;
- Klootwijk, Riko;
- Manoli, Irini;
- MaoSen Sun;
- Ciccone, Carla;
- Darvish, Daniel;
- Starost, Matthew F.;
- Zerfas, Patricia M.;
- Hoffmann, Victoria J.;
- Hoogstraten-Miller, Shelley;
- Krasnewich, Donna M.;
- Gahl, William A.;
- Huizing, Marjan;
- Sun, MaoSen
Publication type:
journal article
Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma.
Published in:
Nature Genetics, 2009, v. 41, n. 5, p. 518, doi. 10.1038/ng.340
By:
- Palavalli, Lavanya H.;
- Prickett, Todd D.;
- Wunderlich, John R.;
- Xiaomu Wei;
- Burrell, Allison S.;
- Porter-Gill, Patricia;
- Davis, Sean;
- Chenwei Wang;
- Cronin, Julia C.;
- Agrawal, Neena S.;
- Lin, Jimmy C.;
- Westbroek, Wendy;
- Hoogstraten-Miller, Shelley;
- Molinolo, Alfredo A.;
- Fetsch, Patricia;
- Filie, Armando C.;
- O'Connell, Michael P.;
- Banister, Carolyn E.;
- Howard, Jason D.;
- Buckhaults, Phillip
Publication type:
Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
By:
- Everett, Lorraine A.;
- Belyantseva, Inna A.;
- Noben-Trauth, Konrad;
- Cantos, Raquel;
- Chen, Amy;
- Thakkar, Sneha I.;
- Hoogstraten-Miller, Shelley L.;
- Kachar, Bechara;
- Wu, Doris K.;
- Green, Eric D.
Publication type:
Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
By:
- Everett, Lorraine A.;
- Belyantseva, Inna A.;
- Noben-Trauth, Konrad;
- Cantos, Raquel;
- Chen, Amy;
- Thakkar, Sneha I.;
- Hoogstraten-Miller, Shelley L.;
- Kachar, Bechara;
- Wu, Doris K.;
- Green, Eric D.
Publication type:
Article
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 12, p. 2229, doi. 10.1093/hmg/8.12.2229
By:
- Kimber, Wendy L.;
- Hsieh, Patrick;
- Hirotsune, Shinji;
- Yuva-Paylor, Lisa;
- Sutherland, Helen F.;
- Chen, Amy;
- Ruiz-Lozano, Pilar;
- Hoogstraten-Miller, Shelley L.;
- Chien, Kenneth R.;
- Paylor, Richard;
- Scambler, Peter J.;
- Wynshaw-Boris, Anthony
Publication type:
Article

Found: 6

Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma.

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.