Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor
dc.contributor.author | German Pasteris, N. | en_US |
dc.contributor.author | Cadle, Amy B. | en_US |
dc.contributor.author | Logie, Lindsay J. | en_US |
dc.contributor.author | Porteous, Mary E. M. | en_US |
dc.contributor.author | Schwartz, Charles E. | en_US |
dc.contributor.author | Stevenson, Roger E. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.contributor.author | Sid Wilroy, R. | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.date.accessioned | 2006-04-10T17:45:17Z | |
dc.date.available | 2006-04-10T17:45:17Z | |
dc.date.issued | 1994-11-18 | en_US |
dc.identifier.citation | German Pasteris, N., Cadle, Amy, Logie, Lindsay J., Porteous, Mary E. M., Schwartz, Charles E., Stevenson, Roger E., Glover, Thomas W., Sid Wilroy, R., Gorski, Jerome L. (1994/11/18)."Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor." Cell 79(4): 669-678. <http://hdl.handle.net/2027.42/31188> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WSN-4CXMRRR-18/2/704128ac73e0449aaff84b978cfab826 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/31188 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7954831&dopt=citation | en_US |
dc.description.abstract | Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by disproportionately short stature and by facial, skeletal, and urogenital anomalies. Molecular genetic analyses mapped FGDY to chromosome Xp11.21. To clone this gene, YAC clones spanning an FGDY-specific translocation breakpoint were isolated. An isolated cDNA, FGD1, is disrupted by the breakpoint, and FGD1 mutations cosegregate with the disease. FGD1 codes for a 961 amino acid protein that has strong homology to Rho/Rac guanine nucleotide exchange factors (GEFs), contains a cysteine-rich zinc finger-like region, and, like the RasGEF mSos, contains two potential SH3-binding sites. These results provide compelling evidence that FGD1 is responsible for FGDY and suggest that FGD1 is a Rho/RacGEF involved in mammalian development. | en_US |
dc.format.extent | 1704532 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics University of Michigan, Ann Arbor, Michigan 48109-0688, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics University of Michigan, Ann Arbor, Michigan 48109-0688, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics University of Michigan, Ann Arbor, Michigan 48109-0688, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics University of Michigan, Ann Arbor, Michigan 48109-0688, USA | en_US |
dc.contributor.affiliationother | Greenwood Genetic Center, Greenwood, South Carolina 29646, USA | en_US |
dc.contributor.affiliationother | Greenwood Genetic Center, Greenwood, South Carolina 29646, USA | en_US |
dc.contributor.affiliationother | Greenwood Genetic Center, Greenwood, South Carolina 29646, USA | en_US |
dc.contributor.affiliationother | Greenwood Genetic Center, Greenwood, South Carolina 29646, USA | en_US |
dc.contributor.affiliationother | Department of Pediatrics University of Tennessee Memphis Health Science Center, Memphis, Tennessee 38105, USA | en_US |
dc.identifier.pmid | 7954831 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/31188/1/0000089.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0092-8674(94)90552-5 | en_US |
dc.identifier.source | Cell | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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