A putative function has been assigned, using the gene ontology approach, to the set of genes harboring at least one SSR. (researchgate.net)
in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
Mutations5
These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as a result of mutations, such as DNA-repeat expansion. (wikipedia.org)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Mutations affecting these genes leads to a higher risk of developing breast and/or ovarian cancer. (frontlinegenomics.com)
Mutations of the CFTR gene result in cystic fibrosis which leads to thickened mucus in the lungs and frequent respiratory infections. (frontlinegenomics.com)
Fungi1
The ability of microorganisms, such as bacteria, viruses and fungi, to resist the effects of antimicrobial drugs, making infections more difficult to treat. (frontlinegenomics.com)
Protein7
Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ataxia, and Huntington's disease, most of which are caused by expansion of repeats at the DNA, RNA, or protein level. (wikipedia.org)
For example, cystic fibrosis is caused by a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein, [3] and in amyotrophic lateral sclerosis / frontotemporal lobar degeneration (FTLD), certain gene-regulating proteins inappropriately aggregate in the cytoplasm, and thus are unable to perform their normal tasks within the nucleus. (wikipedia.org)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
CRISPR stands for clustered regularly interspaced short palindromic repeats and Cas9 stands for CRISPR-associated protein 9. (frontlinegenomics.com)
Huntingtin Antibody was prepared from whole rabbit serum produced by repeated immunizations with a synthetic peptide corresponding to the C-terminus of human Huntingtin disease protein. (novusbio.com)
Huntingtin protein (Htt) is a 348 kDa protein product of Huntington's disease (HD, IT15) gene. (novusbio.com)
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)
Sequence4
scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
Over 932 Mb of end sequence was analyzed for repeats, simple sequence repeats, miRNA and single nucleotide variations, providing the most extensive analysis of Oryza sequence to date. (biomedcentral.com)
Here we report the construction of 12 BAC/BES framework physical maps derived from these libraries and an analysis of the BESs in terms of transposable element, simple sequence repeat (SSR), microRNA (miRNA), and single nucleotide variation (SNV) content. (biomedcentral.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Encodes2
The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene encodes for an ATP-binding cassette (ABC) transporter-class ion channel. (frontlinegenomics.com)
Huntington's disease is a neurodegenerative disorder caused by a mutation on the HD gene, producing a polyglutamin (polyQ) expansion on the N-terminus of Htt. (novusbio.com)
Variants1
Compared to the domesticates, the wild relatives of rice are phenotypically inferior grass-like plants, but are a virtually untapped reservoir of agriculturally important genes and allelic variants that can be used to improve cultivated rice [ 21 , 29 ]. (biomedcentral.com)
Chromosomal1
A candidate gene is a gene located within a chromosomal region that is suspected of being involved in a given trait or function. (frontlinegenomics.com)
Molecular1
genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Abnormal1
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. (lookformedical.com)
Found2
Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
DNA molecules that form a closed loop instead of a linear structure, commonly found in bacteria and some viruses. (frontlinegenomics.com)
Expression5
Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. (wikipedia.org)
control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)
We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
Present2
The SSRs were categorized for the numbers of repeats present, their overall length and were allocated to their linkage group. (researchgate.net)
A total of 4,761 perfect and 6,583 imperfect SSRs were present in 3,781 genes (14.11% of the total), corresponding to an overall density across the gene space of 32,5 and 44,9 SSRs/Mbp for perfect and imperfect motifs, respectively. (researchgate.net)
Single1
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
Cells2
An example is the Saccharomyces pombe gene rad9 which arrests the cells in late S/G2 phase in the presence of DNA damage caused by radiation. (wikipedia.org)
Following expansion, these cells are re-infused back into the patient to kill tumour cells with the specific antigen. (frontlinegenomics.com)
Central1
MRI features of spinal cord infarction are central T2 hyperintensity without significant cord expansion or contrast enhancement. (abcmedicalnotes.com)