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HoxD cluster scanning deletions identify multiple defects leading to paralysis in the mouse mutant Ironside

Article Abstract:

A spontaneous semidominant mutation (Ironside, Irn) was isolated in mice, leading to severe hindlimb paralysis following multiple deletions in cis at the HoxD locus and to understand its cellular and molecular etiology, a comparative analysis was made. Multiple causative factors were involved and the results highlight the importance of a systematic approach when studying clustered gene families, and give insights into the function and regulation of Hox and Evx2 genes during early spinal cord development.

Author: Duboule, Denis, Tarchini, Basile, Thi Hanh Nguyen Huynh, Cox, Greg A.
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2005
United States, Genetic aspects, Mice, House mouse

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Modeling Hox gene regulation in digits: reverse collinearity and the molecular origin of thumbness

Article Abstract:

A study is made using a quantitative approach to analyze the regulatory mechanism underlying collinear Hox gene regulation during mammalian digit development. This approach accounts for the quantitative variations observed in many mutant strains and reveals the molecular constraint leading to thumbness.

Author: Duboule, Denis, Kerszberg, Michel, Montavon, Thomas, Le Garrec, Jean-Francois
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2008
Genetic regulation, Homeobox genes

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The loss of circadian PAR bZip transcription factors results in epilepsy

Article Abstract:

Studies have shown that mice deficient for all three PAR bZip proteins are highly susceptible to generalized spontananeous and audiogenic epilepsies phosphate that frequently are lethal. Transciptome profiling revealed pyridoxal kinase as a target gene of PAR bZip proteins in both liver and brain.

Author: Zakany, Jozsef, Duboule, Denis, Schibler, Ueli, Kodama, Tohru, Gachon, Frederic, Fonjallaz, Philippe, Damiola, Francesa, Gos, Pascal, Petit, Brice, Tafti, Mehdi
Publisher: Cold Spring Harbor Laboratory Press
Publication Name: Genes & Development
Subject: Biological sciences
ISSN: 0890-9369
Year: 2004
Proteins, Genetic transcription, Transcription (Genetics), Vitamin B6, Pyridoxine

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Subjects list: Research, Gene mutations, Gene mutation
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