Experts and Doctors on homozygote in Strasbourg, Alsace Champagne Ardenne Lorraine, France

Summary

Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
Topic: homozygote

Top Publications

  1. Cosgrove D, Gray D, Dierich A, Kaufman J, LeMeur M, Benoist C, et al. Mice lacking MHC class II molecules. Cell. 1991;66:1051-66 pubmed
    ..In short, the class II-negative mice have confirmed some old ideas about lymphocyte differentiation, but have provided some surprises. ..
  2. De La Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, et al. Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science. 1994;265:237-41 pubmed
    ..In addition, CD8+ alpha beta T cells were present in low but significant numbers and were cytotoxic in the most severely affected sibling, who also showed an increase in CD4+CD8+ T cells and gamma delta T cells...
  3. Gorry P, Lufkin T, Dierich A, Rochette Egly C, Decimo D, Dolle P, et al. The cellular retinoic acid binding protein I is dispensable. Proc Natl Acad Sci U S A. 1994;91:9032-6 pubmed
    ..Homozygous mutant mice were normal, indicating that CRABPI does not play a crucial role in the RA signaling pathway. ..
  4. Lohnes D, Kastner P, Dierich A, Mark M, LeMeur M, Chambon P. Function of retinoic acid receptor gamma in the mouse. Cell. 1993;73:643-58 pubmed
    ..The variable penetrance of some of the observed defects is discussed in light of this redundancy and stochastic variation of gene activity. ..
  5. Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet. 2006;14:1195-203 pubmed
  6. Bouyer D, Roudier F, Heese M, Andersen E, Gey D, Nowack M, et al. Polycomb repressive complex 2 controls the embryo-to-seedling phase transition. PLoS Genet. 2011;7:e1002014 pubmed publisher
  7. Bloch Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, et al. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet. 2011;89:773-81 pubmed publisher
    ..Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2. ..
  8. Zanoni P, Khetarpal S, Larach D, Hancock Cerutti W, Millar J, Cuchel M, et al. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease. Science. 2016;351:1166-71 pubmed publisher
    ..P376L carriers have a profound HDL-related phenotype and an increased risk of CHD (odds ratio = 1.79, which is statistically significant). ..
  9. Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
    ..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..

More Information

Publications13

  1. 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. ..
  2. 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
  3. 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. ..
  4. 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. ..