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| http://dx.doi.org/10.1136/jmg.29.3.145 | DOI Listing |
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Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
Physiol Genomics
October 2007
Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.
Neural tube defects (NTDs), the second most common birth defect in humans, are multifactorial with complex genetic and environmental causes, although the genetic factors are almost completely unknown. In mice, >100 single gene mutations cause NTDs; however, the penetrance in many of these single gene mutant lines is highly dependent on the genetic background. We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background.
View Article and Find Full Text PDFInsertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives.
Dev Biol
April 2005
Cardiovascular Division, University of Pennsylvania, Philadelphia, 19104, USA.
Pax3 is a transcription factor expressed in the dorsal neural tube and somite of the developing embryo. It plays critical roles in pre-migratory neural crest cells and in myogenic precursors of skeletal muscle. Pax3-deficient Splotch embryos display neural tube and neural crest defects and lack hypaxial muscles.
View Article and Find Full Text PDFPax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties.
Development
June 2001
Max-Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D-37077 Göttingen, Germany.
Pax3 is a member of the paired-box-containing transcription factors. It is expressed in the developing somites, dorsal spinal cord, mesencephalon and neural crest derivatives. Several loss-of-function mutations are correlated with the Splotch phenotype in mice and Waardenburg syndrome in humans.
View Article and Find Full Text PDFThe expression of the homeobox gene Msx1 reveals two populations of dermal progenitor cells originating from the somites.
Development
May 2000
Laboratoire de Génétique Moléculaire de la Morphogenèse, CNRS URA 1947, Institut Pasteur, 75 724 Paris Cedex 15, France.
Experimental manipulation in birds has shown that trunk dermis has a double origin: dorsally, it derives from the somite dermomyotome, while ventrally, it is formed by the somatopleure. Taking advantage of an nlacZ reporter gene integrated into the mouse Msx1 locus (Msx1(nlacZ) allele), we detected segmental expression of the Msx1 gene in cells of the dorsal mesenchyme of the trunk between embryonic days 11 and 14. Replacing somites from a chick host embryo by murine Msx1(nlacZ )somites allowed us to demonstrate that these Msx1-(beta)-galactosidase positive cells are of somitic origin.
View Article and Find Full Text PDFEffects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.
Genomics
June 1996
Department of Zoology, Michigan State University, East Lansing, Michigan, 48824, USA.
Waardenburg syndrome type 1 is caused by mutations in PAX3. Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified. A PAX3 mutant allele, segregating in a family, can show reduced penetrance and variable expressivity that cannot be explained by the nature of the mutation alone.
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