Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Suzanne M. Deschênes"'
Autor:
Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer
Publikováno v:
Neurobiology of Disease, Vol 4, Iss 3, Pp 221-230 (1997)
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. I
Externí odkaz:
https://doaj.org/article/748dbd05acde45bc8a7988488a1bc1e8
Autor:
R. Michael Liskay, Naz Erdeniz, Guy Tomer, Jenna E. Pisani, Suzanne M. Deschênes, Nicole C. Juba, Natalia Sepúlveda, Megan Nguyen
Publikováno v:
Cancer Letters. 249:148-156
The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f260ab8af1016cefa16253ed4aae4a9
https://doi.org/10.1016/j.canlet.2006.08.008
https://doi.org/10.1016/j.canlet.2006.08.008
Autor:
Suzanne M. Deschênes, Kenneth H. Fischbeck, Rita J. Balice-Gordon, Steven S. Scherer, Linda Jo Bone
Publikováno v:
Neurobiology of Disease, Vol 4, Iss 3, Pp 221-230 (1997)
Mutations in the gap junction gene connexin32 ( Cx32 ) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd23183bb475ddb9f7ca2ab9dc066d0
https://doi.org/10.1006/nbdi.1997.0152
https://doi.org/10.1006/nbdi.1997.0152
Autor:
Suzanne M. Deschênes, Kenneth H. Fischbeck, Steven S. Scherer, Yi-Tian Xu, Judith B. Grinspan, David L. Paul
Publikováno v:
The Journal of Neuroscience. 15:8281-8294
We have examined the expression of a gap junction protein, connexin32 (Cx32), in Schwann cells and oligodendrocytes. In peripheral nerve, Cx32 is found in the paranodal myelin loops and Schmidt-Lanterman incisures of myelinating Schwann cells, and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::968a23905d202038d9e93326212a357e
https://doi.org/10.1523/jneurosci.15-12-08281.1995
https://doi.org/10.1523/jneurosci.15-12-08281.1995
Autor:
Amalia Dutra, Jennifer M. Puck, Peter J. Felsburg, Paula S. Henthorn, Richard L. Somberg, Suzanne M. Deschênes
Publikováno v:
Genomics. 23:62-68
Parallel genetic analysis of animal and human genetic diseases can facilitate the identification and characterization of the causative gene defects. For example, canine X-linked severe combined immunodeficiency (SCID) is characterized by clinical, pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d53c5f3284e10c280b4073c294d6f94
https://doi.org/10.1006/geno.1994.1459
https://doi.org/10.1006/geno.1994.1459
Autor:
Rita J. Balice-Gordon, Annette Abel, Steven S. Scherer, Linda Jo Bone, Suzanne M. Deschênes, Kenneth H. Fischbeck
Publikováno v:
Novartis Foundation Symposium 219-Gap Junction-Mediated Intercellular Signalling in Health and Disease
Mutations in the gene encoding the gap junction protein connexin32 (Cx32; beta 1) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX), a common form of inherited demyelinating neuropathy. Cx32 is localized to the paranodes and incisures of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0595ddbf3e36ecf707b4f6fd9b54e3f
https://doi.org/10.1002/9780470515587.ch11
https://doi.org/10.1002/9780470515587.ch11
Publikováno v:
Molecular biology of the cell. 11(6)
More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the human peripheral neuropathy X-linked Charcot–Marie–Tooth disease (CMTX). How these various mutants are processed by t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccc3e0982ef51b372e930c6b2c31398
https://pubmed.ncbi.nlm.nih.gov/10848620
https://pubmed.ncbi.nlm.nih.gov/10848620
Publikováno v:
Annual review of genetics. 33
▪ Abstract DNA mismatch repair (MMR) is one of multiple replication, repair, and recombination processes that are required to maintain genomic stability in prokaryotes and eukaryotes. In the wake of the discoveries that hereditary nonpolyposis colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccf641a97ea6615d2249f4dc610590b
https://pubmed.ncbi.nlm.nih.gov/10690417
https://pubmed.ncbi.nlm.nih.gov/10690417
Autor:
Tamara Wexler, Jessica L. Walcott, Steven S. Scherer, Suzanne M. Deschênes, Kenneth H. Fischbeck
We examined the cellular localization of nine different connexin32 (Cx32) mutants associated with X-linked Charcot–Marie–Tooth disease (CMTX) in communication-incompetent mammalian cells. Cx32 mRNA was made, but little or no protein was detected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed434f68216ad097854df2d1f1748783
https://europepmc.org/articles/PMC6573613/
https://europepmc.org/articles/PMC6573613/
Autor:
Suzanne M. Deschênes, Linda Jo Bone, Kenneth H. Fischbeck, Rita J. Balice-Gordon, Steven S. Scherer
Publikováno v:
Cell Biology and Pathology of Myelin ISBN: 9780306455957
X-linked Charcot-Marie-Tooth disease (CMTX) is caused by mutations in the gap junction gene connexin32 (Cx32). To date, 89 different mutations have been found, including deletions, insertions, missense, and nonsense mutations, and at least two mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b37b687dad305ff11ce8c80206f82db7
https://doi.org/10.1007/978-1-4615-5949-8_9
https://doi.org/10.1007/978-1-4615-5949-8_9