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Hair cells express a complement of ion channels, representing shared and distinct channels that confer distinct electrophysiological signatures for each cell. This diversity is generated by the use of alternative splicing in the α subunit, formation of heterotetrameric channels, and combinatorial association with β subunits. These channels are thought to play a role in the tonotopic gradient observed...
We report the expression of endogenous CRF1 in COS-7 cells (African green monkey origin). Cloning of the coding region of CRF1 gene identified three alternatively spliced isoforms with nucleotide and predicted amino acid sequences corresponding to the membrane bound α and c and soluble e isoforms. DNA sequencing of the main isoform CRF1α showed homologies of 99%, 97% and 91% with the rhesus monkey,...
Elucidating novel anti-apoptotic regulatory pathways is central to further understanding the molecular basis of several pathologies, including cancer. We have previously reported the identification of several mammalian cDNAs effective in preventing the lethal effects of heterologous expression of a pro-apoptotic BAX cDNA in yeast [Yang, Z., Khoury, C., Jean-Baptiste, G., Greenwood, M.T., 2006. Identification...
Splice variants of the basic helix–loop–helix myoblast determination factor (myoD) have not been previously found in vertebrates. Here we report the identification and characterization of three alternative transcripts of a myoD paralogue from the tiger pufferfish (Takifugu rubripes). The T. rubripes myoD1 gene (TmyoD1) has 3 exons and 2 introns and it is present on scaffold 104, in a region of conserved...
A cDNA coding for a tissue-specific AR45 variant form of the androgen receptor (AR) has recently been identified in humans, with highest expression levels found in heart. The deduced protein comprises the DNA-binding domain, hinge region and ligand-binding domain of the AR, but not the N-terminal domain which is replaced by a unique, short, seven amino-acid-long stretch. This sequence is encoded by...
Two major mRNA isoforms arise via alternative splicing in the 5′-UTR of Drosophila splicing assembly factor rnp-4f pre-mRNA, designated “long” (unspliced) and “short” (alternatively spliced). The coding potential for the two isoforms is identical, raising interesting questions as to the control mechanism and functional significance of this 5′-UTR intronic splicing decision. Developmental Northerns...
We have cloned and characterized a novel splice variant of mouse GMx33α/Golgi-associated protein of 34 kDa (GPP34), hereby designated GMx33αV/GPP34V. This splice variant skips the second and third exons, and the resulting frame shift generates a stop codon in the fourth exon. GMx33αV/GPP34V is comprised of 81 amino acid residues derived from the N-terminal end of the full length protein and corresponds...
RGS4 (regulator of G protein signaling 4) protein is a GTPase-activating protein specific for Gi/o and Gq α subunits. It is highly expressed in brain but the mechanisms by which RGS4 expression is regulated remain unknown. RGS4 is associated with schizophrenia either through heritable genetic polymorphisms or as a co-regulated mediator of the pathology, and may play a role in other brain diseases...
Janus kinase and microtubule interacting protein 1, (Jakmip1) conserved in vertebrates and predominantly expressed in neural tissues, was identified for its ability to bind Tyk2, a member of the Janus kinase (Jak) family of non-receptor tyrosine kinases. Recently Jakmip1 was also identified as an interacting partner of GABA B R1 and as a regulatory protein of GABA B R2 mRNA. We have...
Ataxia-Telangiectasia (A-T) is a genetic disorder causing cerebellar degeneration, immune deficiency, cancer predisposition, chromosomal instability and radiation sensitivity. Among the mutations responsible for A-T, 85% represent truncating mutations that result in the production of shorter, highly unstable forms of ATM (AT-mutated) protein leading to a null ATM phenotype. Several ATM-deficient mice...
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