• genetic
  • This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders. (pubmedcentralcanada.ca)
  • The generation of animal models that accurately recapitulate these types of genetic lesions will facilitate the study of human disease, and this will eventually enable the definition of specific gene-function relationships in these clinical syndromes. (genetics.org)
  • In this book chapter, we present the emerging evidence for the importance of XCI in diseases such as gastric and bladder cancer and genetic pathologies such as Klinefelter (47,XXY) and Turner (45,X0) syndromes. (springer.com)
  • Finally, we are developing new ways of making conditional alleles of mammalian genes using synthetic ligands that we hope will bring about a new fusion of biochemical and genetic approaches to understanding and controlling fundamental biologic processes. (stanford.edu)
  • Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. (wikipedia.org)
  • WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and Range of abilities. (wikipedia.org)
  • Management of Genetic Syndromes (2nd ed. (wikipedia.org)
  • Through genetic studies on both laboratory mice and humans, it has been discovered that RAI1 is likely the gene responsible for these syndromes. (wikipedia.org)
  • XYY syndrome is a genetic condition in which a male has an extra Y chromosome. (wikipedia.org)
  • Genetic testing methods such as fluorescence in situ hybridization (FISH) and chromosomal microarray are available for diagnosing Dup15q syndrome and similar genetic disorders. (wikipedia.org)
  • A study at the University of California, Los Angeles (UCLA) of 13 children with Dup15q syndrome and 13 children with nonsyndromic ASD (i.e., autism not caused by a known genetic disorder) found that, compared to children with nonsyndromic autism, children with Dup15q had significantly lower autism severity as measured by the Autism Diagnostic Observation Schedule (ADOS) (all children in the study met diagnostic criteria for ASD). (wikipedia.org)
  • This group of researchers found that beta activity in children with Dup15q syndrome is significantly greater than that observed in (1) healthy, typically developing children of the same age and (2) children of the same age and IQ with autism not caused by a known genetic disorder (i.e., nonsyndromic ASD). (wikipedia.org)
  • Overexpression
  • Overexpression of PFKL has been associated with Down's syndrome (DS) erythrocytes and fibroblasts and attributed with biochemical changes in PFK that enhance its glycolytic function. (wikipedia.org)
  • In this paper, the hypothesis was that the down syndrome gene dosage overexpression of Has-21 miRNA causes a decreased expression of specific target proteins which in turn causes the neuronal and cardiac symptoms that Down syndrome patients experience. (wikipedia.org)
  • The EEG signature appears almost identical to beta oscillations induced by benzodiazepine drugs that modulate GABAA receptors, suggesting that the signature is driven by overexpression of duplicated GABAA receptor genes GABRA5, GABRB3, and GABRG3. (wikipedia.org)
  • protein
  • The RAI1 gene provides instructions for making a protein that helps regulate the activity (expression) of other genes. (nih.gov)
  • Although most of the genes regulated by the RAI1 protein have not been identified, this protein appears to control the expression of several genes involved in daily (circadian) rhythms, such as the sleep-wake cycle. (nih.gov)
  • Generally, the N-terminal of the subunits carries out their catalytic activity while the C-terminal contains allosteric ligand binding sites This gene encodes one of three protein subunits of PFK, which are expressed and combined to form the tetrameric PFK in a tissue-specific manner. (wikipedia.org)
  • also brain lipid binding protein, BLBP), is a human gene. (wikipedia.org)
  • The protein encoded by this gene is a brain fatty acid binding protein. (wikipedia.org)
  • The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. (wikipedia.org)
  • Chromosome 21-derived MicroRNAs Provide an Etiological Basis for Aberrant Protein Expression in Human Down Syndrome Brains This article was published in the Journal of Biological Chemistry. (wikipedia.org)
  • copies
  • The genes that are closer to the origin site would be replicated first and would consequently be present in two copies in the cell for a longer time than the genes that are closer to the termination site. (wikipedia.org)
  • If viral proteins aberrantly attach to cellular mRNA, they can reverse transcribe copies of genes to create retrogenes. (wikipedia.org)
  • For example, in one study, it was shown that mice with one copy of the RAI1 gene and 3 copies of each of the other 18 genes in the described translocated region of chromosome 11 appeared and behaved like the control mice with the described region intact. (wikipedia.org)
  • The genotypic state in which one of two copies of a gene is absent is called hemizygosity. (wikipedia.org)
  • pathogenesis
  • Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. (nih.gov)
  • It is debated whether the loss of tumour suppressor gene p53, located on 17p, is involved in the central pathogenesis of some neoplasia. (wikipedia.org)
  • Klinefelter
  • In contrast to the other common sex chromosome aneuploidies-47,XXX and 47,XXY (Klinefelter syndrome)-the average IQ scores of 47,XYY boys identified by newborn screening programs were not reduced compared to the general population. (wikipedia.org)
  • It can be considered a form of 47, XXY Klinefelter syndrome, or a variant of it. (wikipedia.org)
  • causative
  • In fact, free radical formation is a leading, although still sketchy, theory to explain the cause of Alzheimer's disease in the vast majority of patients who do not carry a mutation in one of the causative genes. (pnas.org)
  • UBE3A is the causative gene of Angelman syndrome and has been associated with autism. (wikipedia.org)
  • regulation
  • Gene dosage is known to be related to the amount of gene product the cell is able to express, however, amount of gene product produced in a cell is more commonly dependent on regulation of gene expression. (wikipedia.org)
  • Altering gene dosage through variation in gene copy number is a powerful approach to addressing questions regarding gene regulation, quantitative trait loci, and heterosis, but one that is not easily applied to sexually transmitted species. (plantcell.org)
  • Dosage-Sensitive Gene Regulation. (plantcell.org)
  • Transcriptional regulation of the AT1 receptor gene in immortalized human trophoblast cells This article was published in the Biochimica et Biophysica Acta or BBA (Latin for Biochemical and Biophysical Journal). (wikipedia.org)
  • Many retrogenes display changes in gene regulation in comparison to their parental gene sequences, which sometimes results in novel functions. (wikipedia.org)
  • subunit
  • This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). (wikipedia.org)
  • GABRA5, GABRB3, and GABRG3 are gamma aminobutyric acid type A (GABAA) receptor subunit genes and are likely important in Dup15q syndrome given the established role of GABA in the etiologies of autism and epilepsy. (wikipedia.org)
  • phenotypic
  • Since the p-arm of the X chromosome contains genes that are necessary for normal sexual development, Turner's syndrome patients experience phenotypic effects. (wikipedia.org)
  • It occurs when an organism has a single functional copy of a gene, and that single copy does not produce enough product to display the wild type's phenotypic characteristics. (wikipedia.org)
  • alleles
  • A haploinsufficient gene is described as needing both alleles to be functional in order to express the wild type. (wikipedia.org)
  • There are two wild-type alleles of this gene-a high-expressivity allele and a low-expressivity allele. (wikipedia.org)
  • abnormalities
  • Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. (nih.gov)
  • Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. (nih.gov)
  • Rubinstein-Taybi syndrome, a mental retardation syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside mental retardation. (wikipedia.org)
  • proteins
  • Efforts are currently directed towards a subset of genes and proteins involved in neuroprotective or neurodegenerative pathways, which are regulated in these disorders. (stanford.edu)
  • We have focused our efforts on a subset of genes/proteins involved in neuroprotective or neurodegenerative pathways, which we have shown to be regulated in the diseased brain. (stanford.edu)
  • Click on genes, proteins and metabolites below to link to respective articles. (wikipedia.org)
  • He was found to have falsified data in Western blots used to identify key proteins in his research into the brain chemistry of patients with Down syndrome. (wikipedia.org)
  • variation
  • The bacterial chromosome is present only in one copy per cell, but there can still be variation in gene dosage due to DNA replication which starts at the origin of replication and ends at the termination site. (wikipedia.org)
  • These slight gene dosage differences are responsible for variation in gene expression depending on the position on the chromosome. (wikipedia.org)
  • Gene dosage is particularly important to variation observed in quantitative traits, including many of the traits of economic or ecological importance, including heterosis. (plantcell.org)
  • expression
  • Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. (nih.gov)
  • Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. (nih.gov)
  • In Down syndrome, the gene expression on chromosome 21 has increased 50%, and this results in significant health and mental disabilities (1 in 800 human live births have Down syndrome). (wikipedia.org)
  • We found that methylation of human SNCA intron 1 decreased gene expression, while inhibition of DNA methylation activated SNCA expression. (jneurosci.org)
  • H & E staining, immunohistochemistry, and quantitative PCR were used to demonstrate lens defects, and to assay AD, tau and stress-related gene expression. (arvojournals.org)
  • hAß expressed in the mouse lens produces posterior cataract and fiber cell degeneration with increased AD and stress-related gene expression. (arvojournals.org)
  • These include the fact that several hundred types of neurons exist, each requiring specialized patterns of gene expression and in turn specialized chromatin landscapes. (stanford.edu)
  • Anatomically, the engineered mice had a decreased brain-to-body mass ratio and an alteration in the expression of several genes in the hippocampus. (wikipedia.org)
  • The presence of one p53 gene can be functionally active, but its relation to other oncogenes can alter its expression levels when present only in one copy. (wikipedia.org)
  • BDNF
  • The gene for brain-derived neurotrophic factor (BDNF), located on 11p14.1, has been proposed as a candidate gene for the obesity and excessive eating in a subset of WAGR patients. (wikipedia.org)
  • WAGR
  • Newborn children with WAGR syndrome are soon noted to have aniridia. (wikipedia.org)
  • While aniridia is rarely absent in WAGR syndrome, cases have been reported without it. (wikipedia.org)
  • Children with WAGR syndrome receive regular (3-4 yearly) kidney surveillance for Wilms' tumour until at least the age of 6-8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years). (wikipedia.org)
  • Females with WAGR syndrome may have streak ovaries, which can increase the risk for gonadoblastoma. (wikipedia.org)
  • Online Mendelian Inheritance in Man (OMIM) WAGR syndrome -194072 Miller RW, Fraumeni JF, Manning MD (1964). (wikipedia.org)
  • affects
  • Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. (nih.gov)
  • Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. (nih.gov)
  • If one copy of a gene experiences a mutation that affects its original function, the second copy can serve as a 'spare part' and continue to function correctly. (wikipedia.org)
  • symptoms
  • Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine ( scoliosis ), reduced sensitivity to pain and temperature, and a hoarse voice. (nih.gov)
  • Symptoms of the syndrome include intellectual disability, autism, and other disorders unrelated to the listed symptoms. (wikipedia.org)
  • RAI1
  • It is unclear how a loss of one copy of the RAI1 gene leads to the other physical, mental, and behavioral problems associated with this condition. (nih.gov)
  • Both appear to involve a 1.3-3.7Mb chromosome section in 17p11.2 that includes the retinoic acid inducible 1 (RAI1) gene. (wikipedia.org)
  • In other words, RAI1 is dosage-sensitive. (wikipedia.org)
  • effects
  • Clonal propagation allows for replication and maintenance of meiotically unstable ploidy or structural variants and provides an alternative approach to investigating gene dosage effects not possible in sexually propagated species. (plantcell.org)
  • Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. (wikipedia.org)
  • The syndrome can have completely different effects on members of the same family. (wikipedia.org)
  • tissues
  • This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. (wikipedia.org)