- aut = "Ilka Netravali"
- Artículo:
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
- Autor:
Ira Surolia
Stephan P. Pirnie
Vasant Chellappa
Kendra N. Taylor
Annaiah Cariappa
Jesse Moya
Haoyuan Liu
Daphne W. Bell
David R. Driscoll
Sven Diederichs
Khaleda Haider
Ilka Netravali
Sheila Le
Roberto Elia
Ethan Dow
Annette Lee
Jan Freudenberg
Philip L. De Jager
Yves Chretien
Ajit Varki
Marcy E. MacDonald
Tammy Gillis
Timothy W. Behrens
Donald Bloch
Deborah Collier
Joshua Korzenik
Daniel K. Podolsky
David Hafler
Mandakolathur Murali
Bruce Sands
John H. Stone
Peter K. Gregersen
Shiv Pillai
- Resumen:
Sialic acid acetylesterase (SIAE) is an enzyme that is involved in B-cell activation and is required to maintain immunological tolerance in mice. It is shown here that rare, inherited and functionally defective SIAE variants are associated with a variety of autoimmune diseases in humans. The study provides one of the first examples of the importance of rare genetic variants in complex diseases, such as those involving autoimmunity.
- Página:
243
- Publicación:
Nature
- Volúmen:
466
- Número:
7303
- Periodo:
8 Julio 2010
- ISSN:
00280836
- SrcID:
00280836-2010-07-08.txt
- Documento número 307994
- Actualizado el martes, 23 de mayo de 2017 03:58:19 p. m.
- Creado el martes, 23 de mayo de 2017 03:58:19 p. m.
- Enlace directo
- Artículo:
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
- Autor:
Ira Surolia
Stephan P. Pirnie
Vasant Chellappa
Kendra N. Taylor
Annaiah Cariappa
Jesse Moya
Haoyuan Liu
Daphne W. Bell
David R. Driscoll
Sven Diederichs
Khaleda Haider
Ilka Netravali
Sheila Le
Roberto Elia
Ethan Dow
Annette Lee
Jan Freudenberg
Philip L. De Jager
Yves Chretien
Ajit Varki
Marcy E. MacDonald
Tammy Gillis
Timothy W. Behrens
Donald Bloch
Deborah Collier
Joshua Korzenik
Daniel K. Podolsky
David Hafler
Mandakolathur Murali
Bruce Sands
John H. Stone
Peter K. Gregersen
Shiv Pillai
- Resumen:
Sialic acid acetylesterase (SIAE) is an enzyme that is involved in B-cell activation and is required to maintain immunological tolerance in mice. It is shown here that rare, inherited and functionally defective SIAE variants are associated with a variety of autoimmune diseases in humans. The study provides one of the first examples of the importance of rare genetic variants in complex diseases, such as those involving autoimmunity.
- Página:
243
- Publicación:
Nature
- Volúmen:
466
- Número:
7303
- Periodo:
8 Julio 2010
- ISSN:
00280836
- SrcID:
00280836-2010-07-08.txt
- Documento número 1206863
- Actualizado el martes, 10 de julio de 2018 11:34:00 a. m.
- Creado el martes, 10 de julio de 2018 11:34:00 a. m.
- Enlace directo
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