Browsing by Subject "gene"
Now showing items 21-28 of 28
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The mouse Foxi3 transcription factor is necessary for the development of posterior placodes
(2016)The inner ear develops from the otic placode, one of the cranial placodes that arise from a region of ectoderm adjacent to the anterior neural plate called the pre-placodal domain. We have identified a Forkhead family ...
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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
(2004)Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...
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Processing of the FMRFamide Precursor Protein in the Snail Lymnaea stagnalis: Characterization and Neuronal Localization of a Novel Peptide, ‘SEEPLY’
(1993)In the pulmonate snail Lymnaea stagnalis, FMRFamide‐like neuropeptides are encoded by a multi‐exon genomic locus which is subject to regulation at the level of mRNA splicing. We aim to understand the post‐translational ...
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Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches
(2009)SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation ...
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Type 2 diabetes susceptibility in the Greek-Cypriot population: Replication of associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 polymorphisms
(2017)Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D ...
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Ultraviolet Absorbance and Circular Dichroism of Pf1 Virus: Nucleotide/Subunit Ratio of Unity, Hyperchromic Tyrosines and DNA Bases, and High Helicity in the Subunits
(1994)Data have been obtained for the Pfl virion that establish its stoichiometry and conformational features of its DNA and its protein. The absorbance spectrum of the dissociated virus under alkaline denaturing conditions is ...
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure
(2013)Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as ...