Genomes and Genes
Experts and Doctors on homozygote in Strasbourg, Alsace Champagne Ardenne Lorraine, France
Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
- Dolle P, Lufkin T, Krumlauf R, Mark M, Duboule D, Chambon P. Local alterations of Krox-20 and Hox gene expression in the hindbrain suggest lack of rhombomeres 4 and 5 in homozygote null Hoxa-1 (Hox-1.6) mutant embryos. Proc Natl Acad Sci U S A. 1993;90:7666-70 pubmed..These alterations coincide with the region that is subsequently affected in Hoxa-1 null mutant mice and suggest that the primary defects in this mutation are spatially restricted deletions of some rhombomeric structures. ..
- Stoetzel C, Muller J, Laurier V, Davis E, Zaghloul N, Vicaire S, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet. 2007;80:1-11 pubmed
- Cossee M, Lagier Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, et al. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscul Disord. 2009;19:255-60 pubmed publisher..1753_1766dup14 (p.Ile590Leu fsX38). Together with two recently reported mutations, this novel mutation confirms that integrity of the C-terminal domain of TRIM32 is necessary for muscle maintenance. ..
- Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016;98:500-513 pubmed publisher..This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. ..