𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Transgenic mouse model for the fragile X syndrome

✍ Scribed by Kooy, R. Frank; D'Hooge, Rudi; Reyniers, Edwin; Bakker, Cathy E.; Nagels, Guy; De Boulle, Kristel; Storm, Katrien; Clincke, Gilbert; De Deyn, Peter P.; Oostra, Ben A.; Willems, Patrick J.


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
513 KB
Volume
64
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis


Transgenic fragile X knockout mice have been constructed to provide an animal model to study the physiologic function of the fragile X gene (FMR1) and to gain more insight into the clinical phenotype caused by the absence of the fragile X protein. Initial experiments suggested that the knockout mice show macroorchidism and cognitive and behavioral deficits, abnormalities comparable to those of human fragile X patients. In the present study, we have extended our experiments, and conclude that the Fmrl knockout mouse is a reliable transgenic model to study the fragile X syndrome.


πŸ“œ SIMILAR VOLUMES


A transgenic mouse model of the slow-cha
✍ Christopher M. Gomez; Bula B. Bhattacharyya; Pierre Charnet; John W. Day; Cesar πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 861 KB

To investigate the effect of acetylcholine receptor (AChR) mutations on neuromuscular transmission and to develop a model for the human neuromuscular disease, the slow-channel syndrome, we generated transgenic mice with abnormal AChRs using a 6 subunit with a mutation in the ion channel domain. In t

Newborn screening for fragile X syndrome
✍ Bailey, Donald B. πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 121 KB

## Abstract Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? Th

Aneuploidy and the fragile X syndrome
✍ Watson, Michael S. ;Breg, W. Roy ;Pauls, David ;Brown, W. Ted ;Carroll, Andrew J πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 350 KB πŸ‘ 2 views
Autism and the fragile X syndrome
✍ Einfeld, Stewart L. πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 81 KB πŸ‘ 2 views
Prospects for gene therapy in the fragil
✍ Rattazzi, Mario C. ;LaFauci, Giuseppe ;Brown, W. Ted πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 116 KB

## Abstract β€œIf politics is the art of the possible, research is the art of the soluble. Both are immensely practical‐minded affairs.” P. B. Medawar. Gene therapy is unarguably the definitive way to treat, and possibly cure, genetic diseases. A straightforward concept in theory, in practice it has

The fragile(X) syndrome: The mutation pr
✍ Jacobs, Patricia A. ;Sherman, Stephanie ;Turner, Gillian ;Webb, Tessa ;Opitz, Jo πŸ“‚ Article πŸ“… 1986 πŸ› John Wiley and Sons 🌐 English βš– 362 KB πŸ‘ 3 views

In an atteqt to understand the nature of the mtational event leading to the fra(X) syndrw, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. isolated cases, and the reasons for this are discussed.