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  • 2000
  • That contrast is now underscored by the publication of the Human Genome Project (HGP) in 2000, which sorely lacks an algorithm to convert genes into phenotypes. (pubmedcentralcanada.ca)
  • Genetic
  • Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. (semanticscholar.org)
  • If a genetic trait protects against malaria but also has harmful effects and causes illness or diminished fertility, an equilibrium gene frequency will be reached at which the beneficial and harmful effects of such a gene balance each other. (ajtmh.org)
  • DESIGN Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. (semanticscholar.org)
  • Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. (semanticscholar.org)
  • MLH1 gene may be constitutionally affected by primary epimutation (has no known genetic basis and is usually not inherited) or secondary epimutation (associated with genetic cis ‐ or trans ‐acting alteration, which can be transmitted to offspring). (els.net)
  • Genetic landscape of auditory dysfunction 2018-08-01 00:00:00 Abstract Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. (deepdyve.com)
  • Moreover, a particular gene can underlie both dominant and recessive forms of non-syndromic HL depending on the genetic lesion. (deepdyve.com)
  • Individuals with clinical signs and symptoms of a hereditary form of dementia and/or ALS may benefit from diagnostic genetic testing. (invitae.com)
  • Hereditary dementias are a clinically heterogenous group of disorders, including hereditary Alzheimer's disease, frontotemporal dementia ( FTD ), and genetic prion disease. (invitae.com)
  • To further address this issue, 266 subjects from 194 HPC families participating in the Seattle-based Prostate Cancer Genetic Research Study were screened for BRCA2 mutations by sequencing the coding regions, intron-exon boundaries, and suspected regulatory elements of this gene. (aacrjournals.org)
  • predisposition
  • To date, epigenetic mechanisms are known to operate at all stages of LS tumourigenesis, from constitutional predisposition to cancer initiation and progression, and involve DNA MMR genes as well as multiple other growth‐regulatory genes. (els.net)
  • methylation
  • Soon thereafter, promoter methylation as an alternative mechanism of DNA MMR gene inactivation was discovered. (els.net)
  • DNA methylation, miRNAs and histone modifications are involved in epigenetic regulation of MMR genes. (els.net)
  • For some genes, methylation information is predominantly available from LS (underlined) or alternatively, sporadic cases (neither bolded nor underlined). (els.net)
  • mitochondrial
  • Multilocus sequence typing using mitochondrial genes (mtMLST) reveals geographic population structure of Ixodes ricinus ticks. (nih.gov)
  • locus
  • 614350 ]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). (proteopedia.org)
  • hypermethylation
  • The recently discovered CpG island methylator phenotype (CIMP) has widespread concordant hypermethylation of the promoters of numerous genes that often results in transcriptional silencing of those genes. (aacrjournals.org)
  • Selected tumour suppressor genes with hypermethylation reported for both LS and sporadic cases are shown in bold. (els.net)
  • algorithm
  • This novel mechanistic approach, incorporating a "middle-out" cell-cell signaling component, will lead to a readily available algorithm for integrating genes and phenotypes. (pubmedcentralcanada.ca)
  • It is due to the lack of an effective and accessible algorithm for readily translating genes into phenotypes. (pubmedcentralcanada.ca)
  • Screening
  • However, it is much more important to control further spread of the disease causing gene by screening breeding animals when tests are available. (vin.com)
  • disorders
  • Hereditary disorders may affect any blood cells or plasma proteins. (vin.com)
  • to limit the further spread of these hereditary disorders, it is pivotal to not only recognize affected animals, but also carriers that can pass on the mutant gene. (vin.com)
  • Although acquired causes, such as infections, immune disorders, intoxication, blood loss, and chronic organ failure, are the main causes for anemia, hereditary blood disorders leading to anemia are also important in clinical practice. (vin.com)
  • regulatory
  • The evolution of the respiratory system has been "deconvoluted" (Torday and Rehan in Am J Respir Cell Mol Biol 31:8-12, 2004 ) through Gene Regulatory Networks (GRNs) applied to cell-cell communication for all aspects of lung biology development, homeostasis, regeneration, and aging. (pubmedcentralcanada.ca)
  • defective
  • Experimental allogeneic bone marrow transplantation can correct defective blood cells and gene therapy has been attempted. (vin.com)
  • mutant
  • A mutant MMR gene (e.g. (els.net)
  • However, from the number of still as yet uncloned human deafness loci and the findings of large-scale mouse mutant screens, it is clear we are still far from identifying all of the genes critical for auditory function. (deepdyve.com)
  • Human
  • CpG islands are 0.5 to 2 kb regions rich in cytosine-guanosine dinucleotides that are present in the 5′ region of about half of all human genes. (aacrjournals.org)
  • high
  • Western diet characterized by high calories, fat, refined carbohydrates, and animal proteins is associated with p53 mutation and overexpression of the gene product ( 13 , 16 , 17 ). (aacrjournals.org)
  • among
  • The analysis includes those genes (among all 24) that were methylated in at least 10% for at least one tumour type. (els.net)