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*  Could a New Down Syndrome Mouse Model Also Be Useful for Alzheimer Research? | ALZFORUM
App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome ... Since the trisomy includes one human APP gene in the context of two mouse genes, you have (with regard to Aβ) essentially a ... Part of the long-term strategy we had (very long-term, as it turned out) is to breed to candidate gene knockout mice, so we can ... Cindy, sorry, we have not looked at APP by Western blot, but we do know that the human gene is expressed at the RNA level. ...
http://www.alzforum.org/webinars/could-new-down-syndrome-mouse-model-also-be-useful-alzheimer-research
*  Keeping Up with Down Syndrome NSW: April 2010
... "gene dosage" that comes with Trisomy 21 . The researchers observed that a protein, MeCP2, involved in gene functions that ... but the demonstration that increased gene dosage is not necessarily a simple linear effect in Trisomy 21 is significant for ... Even when we know what the genes involved are and what effects they have, the biological pathways are complex.. The online ... The broader concepts of gene-protein product pathways acting in paradoxical ways is not really new, ...
http://keepingupwithds.blogspot.com/2010_04_01_archive.html
*  Patente US4462839 - Enteric coating for pharmaceutical dosage forms - Google Patentes
... which is readily dispersible in water to provide a composition useful for forming an enteric coating on pharmaceutical dosage ... B squeda Im genes Maps Play YouTube Noticias Gmail Drive M s » ... Oral dosage forms of water insoluble drugs and methods of ... Gastric retained gabapentin dosage form. US8231905. 21 Nov 2011. 31 Jul 2012. Depomed, Inc.. Gastric retained gabapentin dosage ... Gastric retained gabapentin dosage form. US8333991. 19 Jul 2012. 18 Dic 2012. Depomed, Inc.. Gastric retained gabapentin dosage ...
http://www.google.es/patents/US4462839?dq=flatulence
*  Gene Dosage and Gene Duplicability | Genetics
The previous test of the dosage hypothesis of gene duplication assumes that if halving the gene dosage is deleterious ( ... The dosage effect refers to an insufficient amount of gene product when one allele of a gene is deleted, whereas the dosage ... the gene dosage hypothesis), because haploinsufficient genes were reported to have more paralogs than haplosufficient genes in ... Genomic test of the gene dosage hypothesis in yeast:. One disadvantage of the above analysis is that haploinsufficient genes ...
http://www.genetics.org/content/179/4/2319
*  Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry | Journal of Neuroscience
Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. Amy Lin, Christopher R. K. Ching, Ariana Vajdi, Daqiang Sun, Rachel K ... Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. Amy Lin, Christopher R. K. Ching, Ariana Vajdi, Daqiang Sun, Rachel K ... Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. Amy Lin, Christopher R. K. Ching, Ariana Vajdi, Daqiang Sun, Rachel K ... Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry Message Subject (Your Name) has forwarded a page to you from Journal ...
http://www.jneurosci.org/content/early/2017/05/23/JNEUROSCI.3759-16.2017
*  Gene dosage - Wikipedia
Gene dosage is the number of copies of a particular gene present in a genome. Gene dosage is known to be related to the amount ... These slight gene dosage differences are responsible for variation in gene expression depending on the position on the ... Nonetheless, changes in gene dosage (copy number variations) due to gene insertions or deletions can have significant ... The bacterial chromosome is present only in one copy per cell, but there can still be variation in gene dosage due to DNA ...
https://en.wikipedia.org/wiki/Gene_dosage
*  Direct autoregulation and gene dosage compensation by POU-domain transcription factor Brn3a.
... Trieu M., Ma A., Eng S.R., ... Conversely, transgenic overexpression of Brn3a in the trigeminal ganglion suppresses the expression of the endogenous gene. ... demonstrating that autoregulation can compensate for the loss of one allele by increasing transcription of the remaining gene ...
http://www.uniprot.org/citations/12441296
*  ACE gene dosage determines additional autonomic dysfunction and increases renal angiotensin II levels in diabetic mice
Diabetic Nephropathy Induced by Increased Ace Gene Dosage Is Associated with High Renal Levels of Angiotensin (1-7) and ... ACE gene polymorphisms might also account for these discrepancies since ACE gene variance is associated with increased risk of ... or insert an extra copy of a gene adjacent to the existing gene (knock in). ... ACE gene titration in mice uncovers a new mechanism for ACE on the control of body weight. Physiol Genomics. 2005;20(2):173-82 ...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322018000100245&lng=es&nrm=iso&tlng=es
*  Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly | Disease Models &...
Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly ... Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly ... Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly ... Gli2 gene dosage and gene-environment interaction illuminate the etiological complexity of holoprosencephaly ...
http://dmm.biologists.org/content/early/2016/08/26/dmm.026328
*  A Phox2- and Hand2-Dependent Hand1 cis-Regulatory Element Reveals a Unique Gene Dosage Requirement for Hand2 during Sympathetic...
... a gene dosage requirement for Hand2 in SG-specific gene expression in vivo and that Hand1 is directly sensitive to Hand2-dosage ... of wild-type dosage. We reasoned that, if Hand1 does indeed contribute to the overall Hand factor gene dosage requirement, this ... 4I,J). Together, these data show that the Hand1 SG enhancer is regulated by Hand2 in a gene dosage-dependent manner. ... However, we also show that these E-box elements are uniquely responsive to Hand2 gene dosage, indicating that Hand1 cannot ...
http://www.jneurosci.org/content/32/6/2110
*  Lirias: Development and characterization of a linear human chromosomal vector to study increased gene dosage in mice
Recently, we identified in the lab a new gene dosage-sensitive ID-candidate gene, HUWE1. The latter was present in the minimal ... Development and characterization of a linear human chromosomal vector to study increased gene dosage in mice. ... To study in mice the consequences of gene duplications, transgenic mice overexpressing these genes can be generated. Current ... allows for the site specific insertion of genes and displays the physiological expression of human genes. In this thesis, we ...
https://lirias.kuleuven.be/handle/123456789/349277
*  Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development, Mammalian Genome | 10.1007...
"Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development, Mammalian Genome" on ... Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development. Combined gene dosage ... Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development. Smith-Roe, Stephanie; ... This was most pronounced at the top and bottom of the gene dosage hierarchy, with a 1.5-fold overrepresentation of Brg1 +/+ ; ...
https://www.deepdyve.com/lp/springer_journal/combined-gene-dosage-requirement-for-swi-snf-catalytic-subunits-during-DLCTuC28a5
*  Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point...
Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point ... Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point ... Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for the ... Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for the ...
https://www.zora.uzh.ch/id/eprint/116005/
*  Distinct disease mechanisms in peripheral neuropathies due to altered |ce:italic|peripheral myelin protein 22|/ce:italic| gene...
Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for the ... In the Tr mutant, a distinguishing feature is the high expression of stress response genes. Both Tr and Pmp22 mice show ... Finally, we have identified a number of candidate genes that may play important roles in the disease process or in myelination ... Interestingly, the three Pmp22 mutants exhibited distinct profiles of gene expression, suggesting different disease mechanisms ...
https://www.semanticscholar.org/paper/Distinct-disease-mechanisms-in-peripheral-due-to-or-Giambonini-Brugnoli-Buchstaller/8c50da9f8ccc4a28348fd0de0b83b7c259aa9b80
*  Diminished hypothalamic bdnf expression and impaired VMH function are associated with reduced SF-1 gene dosage. - Semantic...
Collectively, we propose that a reduction in the sf-1 gene dosage directly affects BDNF levels in the VMH and disrupts normal ... we asked how sf-1 gene dosage affects VMH function. Despite an apparent normal VMH cytoarchitecture, sf-1 heterozygous (+/-) ... On the basis of previous findings suggesting brain-derived neurotrophic factor (bdnf) as an SF-1 target gene, we assessed the ... Diminished hypothalamic bdnf expression and impaired VMH function are associated with reduced SF-1 gene dosage.. @article{ ...
https://www.semanticscholar.org/paper/Diminished-hypothalamic-bdnf-expression-and-VMH-are-Tran-Akana/285985c92fb94383a42021c84cd8b65a67424fbe
*  Analysis of gene dosage aberrations of ErbB oncogene family in endometrial cancer | OncologyPRO
Gene dosages of individual ERBB genes correlated with each other. Particularly strong correlation occurred in case of ERBB2 and ... The purpose of this study was to determine the gene dosages of all the ERBB genes in endometrial cancer in the context of ... 970PD - Analysis of gene dosage aberrations of ErbB oncogene family in endometrial cancer. ... Relative gene dosages of ERBB1, ERBB2, ERBB3 and ERBB4 were assessed by SYBR Green-based quantitative PCR, using ΔΔCt method. ...
http://oncologypro.esmo.org/Topics/Translational-Research/Analysis-of-gene-dosage-aberrations-of-ErbB-oncogene-family-in-endometrial-cancer
*  Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect | ScholarBank@NUS
We provided the first experimental evidence that clinically reported PINK1 heterozygous mutations exert a gene dosage effect, ... Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect. ... Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect. Human Mutation 30 (11) : 1551 ... Mutations in the gene encoding phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) have been associated with the ...
http://scholarbank.nus.edu.sg/handle/10635/110507
*  ATR functions as a gene dosage‐dependent tumor suppressor on a mismatch repair‐deficient background | The EMBO Journal
To examine more specifically the impact of ATR gene dosage on gene amplification frequencies in HCT 116 cells, we performed an ... ATR functions as a gene dosage‐dependent tumor suppressor on a mismatch repair‐deficient background. Yanan Fang, Cheng‐Chung ... The results of this study indicate that a defect in the MMR machinery unmasks a strong gene dosage effect for ATR in the ... the p21/WAF1 gene and the CAD gene complex were rearranged and/or amplified at increased frequencies after monoallelic ATR gene ...
http://emboj.embopress.org/content/23/15/3164
*  Increasing gene dosage greatly enhances recombinant expression of aquaporins in Pichia pastoris | BMC Biotechnology | Full Text
... folded and targeted aquaporins is strongly dependent on recombinant gene dosage and also that increasing the gene dosage could ... to ensure that the selection is efficient and that satisfactory gene dosage is obtained. If, as in the case with SoPIP1;2, gene ... The big advantage of this new method as compared with other qPCR based methods used to verify recombinant gene dosage in P. ... We report a convenient and robust method based on qPCR to determine recombinant gene dosage. The method is generic for all ...
https://bmcbiotechnol.biomedcentral.com/articles/10.1186/1472-6750-11-47
*  Gene Dosage Curations - ClinGen Knowledge Base | Clinical Genome Resource
Gene Associated with Autosomal Recessive Phenotype View Details. 05/31/2017. AASS Gene Associated with Autosomal Recessive ... Gene Associated with Autosomal Recessive Phenotype View Details. 05/31/2017. ABCC8 Gene Associated with Autosomal Recessive ... Gene Associated with Autosomal Recessive Phenotype View Details. 05/31/2017. ABCG8 Gene Associated with Autosomal Recessive ... Gene Associated with Autosomal Recessive Phenotype View Details. 05/31/2017. ACADSB Gene Associated with Autosomal Recessive ...
https://search.clinicalgenome.org/kb/gene-dosage
*  Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage
3. Despite a halved functional gene dosage, heterozygous muscles display an average G(Cl), which is not significantly different ... channel 1 gene dosage. Chen MF, Niggeweg R, Iaizzo PA, LehmannHorn F, Jockusch H (1997) JOURNAL OF PHYSIOLOGY-LONDON 504(1): 75 ... channel 1 gene dosage. JOURNAL OF PHYSIOLOGY-LONDON 504, 75-81.. Chen, M.F., et al., 1997. Chloride conductance in mouse muscle ... channel 1 gene dosage. JOURNAL OF PHYSIOLOGY-LONDON, 504(1), 75-81. doi:10.1111/j.1469-7793.1997.075bf.x ...
https://pub.uni-bielefeld.de/record/1627314
*  Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study
... publishes articles related to Single gene disorders, rare genetic disease, specific genetic syndromes, complex disease, etc. ... Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study Lisa Dyer1,2, Xia Li1,2, James Denton1, ... Single gene CNV assessment of FAS was ordered for this patient after negative sequencing of FAS, FASLG, and CASP10 genes. This ... Meaningfully, we identified 3 novel CNVs in the FAS gene. Heterozygous mutations in the FAS gene cause autoimmune ...
http://jtggjournal.com/article/view/2333/1816
*  University of Antwerp - Role of gene dosage in the acquisition of antimony resistance in Leishmania donovani: experimental...
Role of gene dosage in the acquisition of antimony resistance in Leishmania donovani: experimental evidence. Date: 16 January ... Gene dosage is thus a very important mechanism for the acquisition of antimony resistance and MRPA amplification is the first ... The main hypothesis of this PhD was that gene dosage would play a major role in the development of antimonial resistance in the ... This was highly correlated with transcription levels, supporting the adaptive function of gene dosage. Secondly, I analysed the ...
https://www.uantwerpen.be/popup/kalenderonderdeel.aspx?calitem_id=6079&c=LANDP667&n=113498
*  Opposite effects on facial morphology due to gene dosage sensitivity. - Oxford Big Data Institute
The ability to visualise and quantify face shape effects of gene dosage is of major benefit for determining whether a CNV is ... as a basis for investigating the effects of gene dosage on craniofacial development. We use dense surface modelling techniques ... It enables face shape to be used as a relatively simple and inexpensive functional analysis of the gene(s) involved. ... Gene Dosage, Gene Duplication, Humans, Imaging, Three-Dimensional, Male, Phenotype, Sequence Deletion ...
https://www.bdi.ox.ac.uk/publications/541198