... identification of gene-dosage regulated candidate genes". Br. J. Haematol. 143 (2): 210-21. doi:10.1111/j.1365-2141.2008.07334. ... One splice variant undergoes non-sense mediated decay while another is predicted to splice the gene directly in half and retain ... Koshi R, Sugano N, Orii H, Fukuda T, Ito K (December 2007). "Microarray analysis of nicotine-induced changes in gene expression ... KIAA1704 is located on the positive strand surrounded by 5 nearby genes. Positive Orientation General Transcription Factor IIF ...
Many candidate tumour suppressor genes are found on the lost p arm, allowing the tumour cell population to be maintained. It is ... The neoplasia created from i(17q) is caused by a decrease and increase in gene dosage from the monosomy of the p arm and ... Alternatively, the increase in dosage of genes on the q arm may be involved in a 10-fold increase in risk of i(Xq) Turner's ... Consequently, there is partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost ...
... but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex ... "Pseudoautosomal region 2 (PAR2) Gene group". HUGO Gene Nomenclature Committee. Retrieved 2019-08-30. "WASH6P". HUGO Gene ... The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in ... "Pseudoautosomal regions Gene Family". HUGO Gene Nomenclature Committee. Retrieved 2017-05-11. Ciccodicola A, D'Esposito M, ...
... important role for increased gene dosage of XLMR genes". Human Mutation. 28 (10): 1034-1042. doi:10.1002/humu.20564. ISSN 1098- ... "The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant ... The human CASK gene was first described as a candidate locus for X-linked optic atrophy in 1998. The first patient was ... "The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy". Genomics. 51 (2): 308-309 ...
For example, in one study, it was shown that mice with 2 copies of the RAI1 gene and 3 copies of each of the other 18 genes in ... Other candidate genes have been identified within the duplicated section, including SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In ... Carmona-Mora, P; Walz, K (December 2010). "Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral ... In other words, RAI1 is dosage-sensitive. This provides evidence that it is the number of RAI1 copies present that affects the ...
... and enhanced therapeutic strategies that predict the optimal target candidates subjects and genes. Today, microarrays and other ... they offer additional information to consider when discussing details such as duration or dosage or drug sensitivity etc. in ... A gene signature or gene expression signature is a single or combined group of genes in a cell with a uniquely characteristic ... A predictive gene signature unlike a prognostic gene signature can be a target for therapy. The information predictive ...
FLC gene in Arabidopsis thaliana encodes for a transcription factor that prevent expression of a range of genes that induce ... Despite the promises of asRNAs as drug targets or drug candidates, there are some challenges remained to be addressed. First of ... In terms of drug targets, this represents a huge advantage because only a low dosage is required for effectiveness. Recent ... However, there is a need in developing drugs that can activate or upregulate gene expression such as tumor suppressor genes, ...
This leads to dosage compensation problems: the two X chromosomes in the female will create twice as many gene products as the ... X inactivation allows for equal dosage of X-linked genes for both males and females by inactivating the extra X chromosome in ... An autosome may be a more likely candidate for regulating this process in humans. The presence of Tsix in humans may be an ... Genes on human chromosome X, Genes mutated in mice, Molecular genetics). ...
"A Candidate Gene for a Biological Marker of Schizophrenia in Mice". PLOS Biology. 5 (11): e320. doi:10.1371/journal.pbio. ... "Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance". Nucleic Acids Research ... "An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia". Molecular ... "Entrez Gene: FABP7 fatty acid binding protein 7, brain". Anthony TE, Mason HA, Gridley T, Fishell G, Heintz N (May 2005). " ...
No significant increase in gene expression of six candidate genes of virilization was observed. As such, MK-0773 shows a ... of that of DHT at the highest dosage assessed. It had similarly reduced effects on the prostate gland. ...
July 2020). "cADPR is a gene dosage-sensitive biomarker of SARM1 activity in healthy, compromised, and degenerating axons". ... SARM1 (Wikigenes collaborative publishing) (Articles with short description, Short description matches Wikidata, Genes on human ... "Permeant fluorescent probes visualize the activation of SARM1 and uncover an anti-neurodegenerative drug candidate". eLife. 10 ... Sterile alpha and TIR motif containing 1 Is an enzyme that in humans is encoded by the SARM1 gene. It is the most ...
In The Selfish Gene, Richard Dawkins describes an approach to life-extension that involves "fooling genes" into thinking the ... There are biological databases of prolongevity drug candidates under research as well as of potential gene/protein targets. ... Vitamin D supplementation of various dosages is investigated in trials and there also is research into GlyNAC . Complications ... "Public Acceptability of Gene Therapy and Gene Editing for Human Use: A Systematic Review". Human Gene Therapy. 31 (1-2): 20-46 ...
For example, increasing the gene dosage of the gene SIR-2, which regulates DNA packaging in the nematode worm Caenorhabditis ... The gene designations shown in red, gray or cyan indicate genes frequently epigenetically altered in various types of cancers. ... Wang K, Xie C, Chen D (May 2014). "Flap endonuclease 1 is a promising candidate biomarker in gastric cancer and is involved in ... Tissenbaum HA, Guarente L (March 2001). "Increased dosage of a sir-2 gene extends lifespan in Caenorhabditis elegans". Nature. ...
This appears to be caused by mutations in the TUBB4 gene on the short arm of chromosome 19 (19p13.2-p13.3). This gene encodes a ... THAP1 and TOR1A genes. However, a recent study that examined the mutation of these three genes in 86 SD patients found that ... The level of evidence for its use is currently limited; little is known about optimal dosage, frequency of injections, or exact ... candidate for the Democratic nomination for President in 2024 Mary Lou Lord, indie folk musician Benny Martin (1928-2001), ...
Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as Turner. Similar genes ... Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W (August 1997). "PHOG, a candidate gene for involvement ... The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X ... Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy ...
Where most cases of GH are caused by mutations in the HFE gene, they focus on genes in two candidate pathways, those involved ... In the double mutant condition, dosage of functional tetrameric complex is sufficiently reduced to cause RP. Short of the ... A human disease modifier gene is a modifier gene that alters expression of a human gene at another locus that in turn causes a ... In 1985, the gene was mapped by linkage analysis by Tsui et al., and in 1989, the gene was cloned by Riordan et al. When ...
For diseases caused by multiple genes or a dominant gene gene silencing or gene editing approaches are more appropriate but ... may be a good candidate for gene therapy treatment. The risks and benefits related to gene therapy for sickle cell disease are ... It was suggested that the treatment, whose dosage is based on body weight, exerts a disproportionately toxic effect on heavier ... Gene augmentation adds a new protein coding gene to a cell. One form of gene augmentiation is gene replacement therapy, a ...
This translocation places a part of the API2 gene with a part of the MALT1 gene to create a fusion gene that encodes an Api2- ... Mutations in genes such as: 1) NOTCH2 (25% of cases) a membrane protein that regulates the development of marginal zone B-cells ... One or more of these vaccines may be a promising candidates to control Helicobacter pylori infection in humans as well as farm ... These trials are important in determining dosages and safety of the drugs in study. As of January 19, 2017, the FDA approved ...
The often used method to detect gene-environment interactions is by studying the effect a single gene variation (candidate gene ... This would allow doctors to more precisely select a certain drug and dosage to achieve therapeutic response in a patient while ... The complex flowering time patterns is attributed to the interaction of major flowering time genes (Ma1, Ma6, FT, ELF3) and an ... Aschard H, Chen J, Cornelis MC, Chibnik LB, Karlson EW, Kraft P (June 2012). "Inclusion of gene-gene and gene-environment ...
October 2015). "Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis". ... 1998). "Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene ... ultra-conserved elements are located near transcriptional regulators or developmental genes performing functions such as gene ... June 2015). "Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor ...
Together, these candidate genes pointed to an importance of neurotransmission and immunology as important factors in the ... This results in deletions and duplications of dosage sensitive genes. It has been speculated that CNVs underlie a significant ... Variations near the gene FXYD6 have also been associated with schizophrenia in the UK but not in Japan. In 2008, rs7341475 ... A literature review judged that over 50% of the candidate genes for susceptibility to schizophrenia met criteria for "ischemia- ...
The presence of 5mC at the promoters of genes is generally associated with gene silencing. 5hmC, which is the oxidized product ... This gradual loss of methylation marks leads to changes in the expression of crucial developmental genes that may be dosage ... Epigenetic modifications both globally and on specific candidate genes are thought to contribute to the etiology of this ... Tumor suppressing genes are those which inhibit a cell's progression towards cancer. These genes are commonly associated with ...
Kwon D. "Aging Is Linked to More Activity in Short Genes Than in Long Genes". Scientific American. Retrieved 18 January 2023. ... Macip CC, Hasan R, Hoznek V, Kim J, Metzger IV LE, Sethna S, Davidsohn N (27 January 2023). "Gene Therapy Mediated Partial ... 2007 First evidence that a pharmacological agent (namely, metformin) at a certain dosage is capable to increase the lifespan of ... as well as haem metabolism as a promising candidate for further research within the field. Scientists report that after mice ...
Candidate polymorphism search refers to finding polymorphic DNA sequences within specific genes that are candidates for certain ... rather than solely focusing on one gene. It can provide insight into additional information such as gene-gene interactions, ... Another challenge is that cancer patients are often treated with different combinations and dosages of drugs, so finding a ... This results in the fusion of the genes BCR and ABL. This atypical gene fusion encodes for unregulated tyrosine kinase activity ...
It is important to ensure that the sample of genes being tested come from different populations. This is to ensure that the ... For instance, many women are already being genotyped for certain mutations in the BRCA1 and BRCA2 gene if they are predisposed ... Several candidate nanocarriers are being investigated, such as iron oxide nanoparticles, quantum dots, carbon nanotubes, gold ... allow for appropriate dosages, and create maximum efficacy with drug prescriptions. For instance, warfarin is the FDA approved ...
gene dosage The number of copies of a particular gene present in a genome. Gene dosage directly influences the amount of gene ... Candidate genes are often selected for study based on a priori knowledge or speculation about their functional relevance to the ... in which a gene is only transcribed as needed. A gene that is transcribed continuously is called a constitutive gene. 2. A gene ... isomeric genes Two or more genes that are equivalent and redundant in the sense that, despite coding for distinct gene products ...
In non-primate mammals, the gene sequences of NBPF-like genes have little similarity to the primate NBPF genes. These genes ... Vandepoele K, Staes K, Andries V, van Roy F (April 2010). "Chibby interacts with NBPF1 and clusterin, two candidate tumor ... Davis JM, Searles VB, Anderson N, Keeney J, Dumas L, Sikela JM (March 2014). "DUF1220 dosage is linearly associated with ... The NBPF2 pseudogene and NBPF3 gene are the most similar genes located close to NBPF1 and they reside on the chromosomal ...
Gene and genome sequencing is far outpacing biochemical characterization of enzymatic function, though many genes with close ... Cunninghamella elegans is a candidate for use as a model for mammalian drug metabolism. Cytochromes P450 are involved in a ... Hence, these drug interactions may necessitate dosage adjustments or choosing drugs that do not interact with the P450 system. ... Mice have genes for 101 P450s, and sea urchins have even more (perhaps as many as 120 genes). Most CYP enzymes are presumed to ...
Whilst the single-gene, single-disease hypothesis holds for Mendelian disorders such as Huntington's disease and cystic ... In particular, human leukocyte antigen (HLA) genes are strongly implicated in CD development and HLA testing is undertaken in ... Alternatively, CNV (copy number variants) have been proposed to usurp SNPs as better candidates for prediction with BMI ... or using the genomic profile of the P450 drug metabolising system of individuals to assist dosage and selection. In the table ...
The HA genes were circulating in the East Asian flyway in both wild birds and ducks, while the NA genes were introduced from ... It is hypothesized that the gene that codes for HA has its origin in ducks and the gene that codes for NA has its origin with ... The CDC and vaccine manufacturers are developing a candidate virus to be used in vaccine manufacturing if there is widespread ... Two Phase II trials are collecting data about the safety of the vaccine, immune system responses to different vaccine dosages, ...