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  • Methylation
  • Methylation of p14 ARF was found in 3/25 cases (12%) and alterations in p16 INK4a occurred in 6/25 liver cell adenomas (24%) which correlated with loss of mRNA transcription. (bmj.com)
  • chromosome
  • In regions of UPD, portions of one of the chromosomes are lost and replaced by the exact copy of the remaining chromosome (either paternal or maternal), resulting in the retention of 2 copies of genetic information but the loss of polymorphic differences that existed due to the presence of maternal and paternal genes in this region of a diploid chromosome set. (aacrjournals.org)
  • The homogametic sex (females in humans) receive two of each sex chromosome and therefore need to be homozygous to show a recessive trait. (wikipedia.org)
  • tumors
  • The loss of nuclear SMAD4 expression in primary tumors correlated significantly with poor survival, and was an independent prognostic marker in multivariate analysis. (aacrjournals.org)
  • genes
  • The phenotypes of Cdx1 and Cdx2 loss-of-function mutant mice generated by homologous recombination in part reflect the fact that the Cdx proteins are positive regulators of the Hox genes in embryonic tissues (for a review, see Deschamps and van Nes, 2005 ). (biologists.org)
  • The classical example of such a loss of protecting genes is hereditary retinoblastoma, in which one parent's contribution of the tumor suppressor Rb1 is flawed. (wikipedia.org)
  • Having a homozygous pair of genes with the ΔF508 mutation prevents the CFTR protein from assuming its normal position in the cell membrane. (wikipedia.org)
  • mutant
  • Most animals with loss-of-function let-7 mutation burst through their vulvas and die, and therefore the mutant is lethal (let). (wikipedia.org)
  • copy
  • However, the discovery of uniparental disomy (UPD), also referred to as copy-neutral LOH, suggests that LOH may not necessarily be due to the loss of chromosomal material. (aacrjournals.org)
  • Loss of heterozygosity due to loss of one parental copy in a region is also called hemizygosity in that region. (wikipedia.org)
  • Although most cells will have a functional second copy, chance loss of heterozygosity events in individual cells almost invariably lead to the development of this retinal cancer in the young child. (wikipedia.org)
  • Non-polymorphic probes can provide only copy number information, while SNP arrays can provide both copy number and loss-of-heterozygosity (LOH) status in one assay. (wikipedia.org)
  • One hypothesis as to why the otherwise detrimental mutation has been maintained by natural selection is that a single copy may present a positive effect by reducing water loss during cholera, though the introduction of pathogenic Vibrio cholerae into Europe did not occur until the late 18th century. (wikipedia.org)
  • symptoms
  • Other neurological symptoms include peripheral neuropathy, loss of sensation in extremities caused by damage to the peripheral nervous system. (wikipedia.org)
  • embryonic
  • Homozygous disruption of SMAD4 in mice caused early embryonic lethality, making it difficult to study the function of SMAD4 during later stages of development and tumorigenesis in Smad4 -knockout mice ( 15 ). (aacrjournals.org)
  • cells
  • We found loss of SMAD4 protein expression in the cytoplasm (36 of 114, 32%) and in the nucleus (46 of 114, 40%) of gastric cancer cells. (aacrjournals.org)
  • Anti-Kidd antibodies appear to react more strongly against cells that are homozygous. (wikipedia.org)
  • DLC1 is also involved in the formation of focal adhesions, so loss of DLC1 leads to reduced cell adhesion and increased metastatic potential of cells. (wikipedia.org)
  • shown
  • Loss of the tumor suppressor FBXW7 has recently been shown to correlate with increased sensitivity of tumor cell lines to treatment with PI3K pathway inhibitors ( 10 ) and appears to have a reciprocal relationship with PTEN loss. (aacrjournals.org)
  • For example: It has been shown that heterozygosity for cystic fibrosis is associated with increased airway reactivity, and heterozygotes may be at risk for poor pulmonary function. (wikipedia.org)
  • show
  • Here, we show in mutation-accumulation lines of asexual Daphnia that the rate of loss of nucleotide heterozygosity by ameiotic recombination is substantially greater than the rate of introduction of new variation by mutation. (pnas.org)
  • mice
  • Transgenic mice displayed a similar phenotype as arrhythmogenic right ventricular cardiomyopathy patients, with loss of cardiomyocytes, fibrosis and cardiac dysfunction, as well as alterations in desmosome protein content and gap junction remodeling. (wikipedia.org)
  • either
  • Homozygosity of d is sometimes accompanied by hair loss and recurrent skin inflammation, a condition referred to as either color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD) depending upon the breed of dog. (wikipedia.org)
  • skin
  • Clinical hallmarks, in addition to blisters and erosions of the skin and mucous membranes, include nail dystrophy, loss of hair, and dental anomalies. (wikipedia.org)
  • cell
  • As loss of p16 function is quite common in HNSCC and has important functional implications, we sought to determine whether p16 expression levels, as determined immunohistochemically, were associated with clinical outcome in a cohort of 123 oropharyngeal squamous cell cancer patients with a mean follow-up of 33 months. (aacrjournals.org)
  • DLC1 is also involved in the formation of focal adhesions, so loss of DLC1 leads to reduced cell adhesion and increased metastatic potential of cells. (wikipedia.org)
  • animal
  • Homozygous inactivation of Flcn in these animal models is lethal to the embryo. (wikipedia.org)
  • An animal that is homozygous for d will have a diluted coat colour, slight to moderate dilution of the paw pads and eye rims towards bluish grey if B/- or taupe if b/b, and slight to moderate reduction of eye colour from brown towards amber in a B/- animal, or from hazel towards light amber in a b/b animal. (wikipedia.org)
  • include
  • Other neurological symptoms include peripheral neuropathy, loss of sensation in extremities caused by damage to the peripheral nervous system. (wikipedia.org)