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Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar
- J. Rodriguez-Flores, Khalid A. Fakhro, +13 authors R. Crystal
- Biology, Medicine
- Human mutation
- 1 January 2014
This study sequenced the exomes of 100 individuals representing the three major genetic subgroups of the Qatari population and identified 37 variants in 33 genes with effects on 36 clinically significant Mendelian diseases. Expand
The snail Ilyanassa: a reemerging model for studies in development.
An overview of aspects of Ilyanassa obsoleta biology and use are presented, especially as a model for the spiralian development program, a distinctive mode of early development shared by a large group of animal phyla, but poorly understood. Expand
Analysis of ciliary band formation in the mollusc Ilyanassa obsoleta
The present study describes in further detail the cell lineage of the ciliary bands in the gastropod mollusc I. obsoleta using intracellular lineage tracing and the expression of an acetylated tubulin antigen that serves as a marker for ciliated cells. Expand
Type 2 Diabetes Risk Allele Loci in the Qatari Population
Haplotype analysis demonstrated that Qatari haplotypes in the region of known T2D risk alleles in Q1 and Q2 genetic subpopulations were similar to European haplotypes, suggesting that the genetic risks for type 2 diabetes are likely different in Qataris compared to Europeans and Asians. Expand
Obtaining Ilyanassa snail embryos.
This protocol describes how to induce embryo production in Ilyanassa snails, collect the embryos, and rear them to the stage required for study. Expand
Ilyanassa Notch signaling implicated in dynamic signaling between all three germ layers.
- M. Gharbiah, A. Nakamoto, Adam B. Johnson, J. D. Lambert, L. Nagy
- Biology, Medicine
- The International journal of developmental…
It is proposed a speculative model that Notch signaling is required to specify endoderm fates and 4d sublineages, as well as to maintain cell fates induced by 4d, when treating larvae at successively later timepoints with DAPT. Expand
Fixation of Ilyanassa snail embryos and larvae.
This protocol describes how to fix and store Ilyanassa embryos and larvae for use in whole-mount in situ hybridization and immunohistochemical studies. Expand
Induction of larval metamorphosis in the snail Ilyanassa.
The induction of metamorphosis in snail larvae is described, which can be induced artificially by treating with either the neurotransmitter serotonin or the nitric oxide synthase inhibitor 7-nitroindazole. Expand
Evidence for multiple signaling events during the early cleavages of the mollusc Ilyanassa
Pressure injection of Ilyanassa snail embryos.
- M. Gharbiah, J. Cooley, +4 authors L. Nagy
- Chemistry, Medicine
- Cold Spring Harbor protocols
- 1 April 2009
This protocol describes a recently optimized procedure for the pressure injection of aqueous solutions into Ilyanassa embryos and zygotes with high rates of survival and normal development. Expand