(WFRF:(Cameron Christine))
Search: (WFRF:(Cameron Christine)) > Mutations in SGOL1 ...
- 8 of 18
- Previous record
- Next record
- To hitlist
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- Chetaille, Philippe (author)
- Preuss, Christoph (author)
- Burkhard, Silja (author)
- show more...
- Cote, Jean-Marc (author)
- Houde, Christine (author)
- Castilloux, Julie (author)
- Piche, Jessica (author)
- Gosset, Natacha (author)
- Leclerc, Severine (author)
- Wuennemann, Florian (author)
- Thibeault, Maryse (author)
- Gagnon, Carmen (author)
- Galli, Antonella (author)
- Tuck, Elizabeth (author)
- Hickson, Gilles R. (author)
- El Amine, Nour (author)
- Boufaied, Ines (author)
- Lemyre, Emmanuelle (author)
- Barbara, Pascal de Santa (author)
- Faure, Sandrine (author)
- Cameron, Michel (author)
- Dietz, Harry C. (author)
- Gallo-McFarlane, Elena (author)
- Benson, D. Woodrow (author)
- Moreau, Claudia (author)
- Labuda, Damian (author)
- Zhan, Shing H. (author)
- Shen, Yaoqing (author)
- Jomphe, Michele (author)
- Jones, Steven J. M. (author)
- Bakkers, Jeroen (author)
- Andelfinger, Gregor (author)
- show less...
- (creator_code:org_t)
- 2014-10-05
- 2014
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:11, s. 1245-1249
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-beta signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
- Nature Genetics (Search for host publication in LIBRIS)
To the university's database
- 8 of 18
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Chetaille, Phili ...
- Preuss, Christop ...
- Burkhard, Silja
- Cote, Jean-Marc
- Houde, Christine
- Castilloux, Juli ...
- show more...
- Piche, Jessica
- Gosset, Natacha
- Leclerc, Severin ...
- Wuennemann, Flor ...
- Thibeault, Marys ...
- Gagnon, Carmen
- Galli, Antonella
- Tuck, Elizabeth
- Hickson, Gilles ...
- El Amine, Nour
- Boufaied, Ines
- Lemyre, Emmanuel ...
- Barbara, Pascal ...
- Faure, Sandrine
- Jonzon, Anders
- Cameron, Michel
- Dietz, Harry C.
- Gallo-McFarlane, ...
- Benson, D. Woodr ...
- Moreau, Claudia
- Labuda, Damian
- Zhan, Shing H.
- Shen, Yaoqing
- Jomphe, Michele
- Jones, Steven J. ...
- Bakkers, Jeroen
- Andelfinger, Gre ...
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Articles in the publication
- Nature Genetics
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
